diff --git a/data/processed/arrhythmia_vital_scores_with_conditions.csv b/data/processed/arrhythmia_vital_scores_with_conditions.csv
new file mode 100644
index 0000000..8123128
--- /dev/null
+++ b/data/processed/arrhythmia_vital_scores_with_conditions.csv
@@ -0,0 +1,1732 @@
+variant_key,gene,clinvar_id,variation_id,title,clinsig,review_status,review_strength,review_score,submitter_count,submitter_count_source,match_category,frequency_evidence_status,variant_type,functional_class,global_af,global_ac,global_an,popmax_af,popmax_ac,popmax_population,popmax_global_ratio,max_frequency_signal,max_frequency_source,qualifying_frequency_ac,standard_acmg_frequency_flag,standard_acmg_high_frequency_flag,popmax_only_frequency_flag,frequency_signal_ac_ge_20,weak_review_signal,gene_frequency_constraint_proxy,technical_detectability_index,frequency_pressure_score,ac_reliability_score,popmax_enrichment_score,variant_type_tension_score,technical_detectability_score,gene_constraint_score,review_fragility_score,vital_score,vital_band,vital_red_flag,predicted_revision_direction,vital_signal_reason,variation_id_key,vcv_key,condition_from_variation_id,condition_from_vcv,condition_labels,condition_label_join_source
+3:38562456:G:A,SCN5A,VCV000440850,440850,NM_000335.4(SCN5A):c.[3919C>T;694G>A],Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,other_or_unresolved,0.0001464876505434,214.0,1460874.0,0.0056763862332695,190.0,afr,38.74992993923283,0.0056763862332695,popmax,214.0,True,True,False,True,True,0.6637931034482759,0.811340206185567,45.0,20.0,7.941354608142989,0.0,6.490721649484536,6.637931034482759,10.0,96.07000729211028,red_reclassification_priority,True,P/LP_to_VUS_or_B_review_recommended,popmax_AF_gt_1e-4; global_AF_gt_1e-5; AC_ge_20; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,440850,440850,,,,unmatched
+6:123438063:CT:C,TRDN,VCV001325231,1325231,NM_006073.4(TRDN):c.1050del (p.Glu351fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.774748677138568e-05,40.0,1441572.0,0.0002182135583357,9.0,amr,7.864263645544536,0.0002182135583357,popmax,40.0,True,True,False,True,True,0.390625,0.6043553875236295,30.124838998003188,20.0,4.478290322877946,3.0,4.834843100189036,3.90625,8.0,74.34422242107016,red_reclassification_priority,True,P/LP_to_VUS_or_B_review_recommended,popmax_AF_gt_1e-4; global_AF_gt_1e-5; AC_ge_20; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,1325231,1325231,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id
+7:150950166:A:C,KCNH2,VCV004535537,4535537,NM_000238.4(KCNH2):c.2398+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.367018818211924e-05,24.0,549574.0,0.0001315270288044,2.0,asj,3.0118264259375755,0.0001315270288044,popmax,24.0,True,True,False,True,True,0.8263888888888888,0.811340206185567,25.177837788340284,20.0,2.3941496974878667,0.0,6.490721649484536,8.26388888888889,8.0,70.32659802420157,red_reclassification_priority,True,P/LP_to_VUS_or_B_review_recommended,popmax_AF_gt_1e-4; global_AF_gt_1e-5; AC_ge_20; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,4535537,4535537,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+10:18514531:G:T,CACNB2,VCV003774534,3774534,NM_201596.3(CACNB2):c.804+162G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,1.1632028310988434e-05,17.0,1461482.0,0.0001970877388239,17.0,sas,16.943538788860945,0.0001970877388239,popmax,17.0,True,True,False,False,True,0.25,0.811340206185567,29.129841204685352,18.987357242520268,6.145020606115558,0.0,6.490721649484536,2.5,8.0,71.25294070280572,orange_high_tension,False,,popmax_AF_gt_1e-4; global_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.25; detectability=0.81,3774534,3774534,Brugada syndrome 4,Brugada syndrome 4,Brugada syndrome 4,variation_id
+6:123547340:CT:C,TRDN,VCV001074440,1074440,NM_006073.4(TRDN):c.423del (p.Glu142fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.4587780046988007e-05,19.0,1302460.0,0.0001336541031809,3.0,amr,9.162058557802116,0.0001336541031809,popmax,19.0,True,True,False,False,False,0.390625,0.6043553875236295,25.33460173620717,19.67948888426708,4.809965315856219,3.0,4.834843100189036,3.90625,3.0,64.5651490365195,yellow_watchlist,False,,popmax_AF_gt_1e-4; global_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,1074440,1074440,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia,variation_id
+1:115701413:C:T,CASQ2,VCV002565185,2565185,NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.425131422292673e-06,5.0,1459798.0,0.0001495662578522,5.0,afr,43.667292358899566,0.0001495662578522,popmax,5.0,True,True,True,False,False,0.5125,0.811340206185567,26.43375668955885,11.770381108229664,8.200781319116079,0.0,6.490721649484536,5.125,3.0,61.02064076638913,yellow_watchlist,False,,popmax_AF_gt_1e-4; type=SNV; gene_constraint=0.51; detectability=0.81,2565185,2565185,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+7:150950197:A:G,KCNH2,VCV001027323,1027323,NM_000238.4(KCNH2):c.2369T>C (p.Leu790Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,7.213041178450639e-06,9.0,1247740.0,0.0002143163309044,1.0,mid,29.71233587745845,0.0002143163309044,popmax,1.0,True,True,True,False,False,0.8263888888888888,0.811340206185567,29.94874352029472,4.55340497393906,7.364683979114753,0.0,6.490721649484536,8.26388888888889,3.0,59.62144301172195,yellow_watchlist,False,,popmax_AF_gt_1e-4; type=SNV; gene_constraint=0.83; detectability=0.81,1027323,1027323,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,variation_id
+6:123529317:C:T,TRDN,VCV002635811,2635811,NM_006073.4(TRDN):c.484+1189G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,5.012186774127951e-06,7.0,1396596.0,0.000112101339611,4.0,amr,22.36575037943466,0.000112101339611,popmax,4.0,True,True,True,False,True,0.390625,0.811340206185567,23.616243142180487,10.57267893638896,6.747917367491054,0.0,6.490721649484536,3.90625,8.0,59.33381109554504,yellow_watchlist,False,,popmax_AF_gt_1e-4; weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,2635811,2635811,TRDN-related disorder,TRDN-related disorder,TRDN-related disorder,variation_id
+7:150948439:CTCA:C,KCNH2,VCV003076015,3076015,NM_000238.4(KCNH2):c.2692+2_2692+4del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,2.7727944499746288e-06,4.0,1442588.0,6.611424541607899e-05,3.0,fin,23.84389602799007,6.611424541607899e-05,popmax,3.0,True,False,True,False,True,0.8263888888888888,0.6043553875236295,18.456638672735043,9.10680994787812,6.886886097038535,3.0,4.834843100189036,8.26388888888889,8.0,58.54906670672962,yellow_watchlist,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3076015,3076015,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id
+1:115705205:TC:T,CASQ2,VCV001766367,1766367,NM_001232.4(CASQ2):c.925del (p.Asp309fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.84958717538094e-07,1.0,1459942.0,0.0001734906315058,1.0,mid,253.28589121907208,0.0001734906315058,popmax,1.0,True,True,True,False,False,0.5125,0.6043553875236295,27.88371068312418,4.55340497393906,10.0,3.0,4.834843100189036,5.125,3.0,58.39695875725227,yellow_watchlist,False,,popmax_AF_gt_1e-4; type=deletion; gene_constraint=0.51; detectability=0.60,1766367,1766367,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+11:2587679:AG:A,KCNQ1,VCV001395670,1395670,NM_000218.3(KCNQ1):c.1239del (p.Lys414fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.737022748764577e-06,4.0,1461442.0,8.944543828264758e-05,4.0,amr,32.67981847911294,8.944543828264758e-05,popmax,4.0,True,False,True,False,False,0.6403508771929824,0.6043553875236295,21.410059529362677,10.57267893638896,7.571398177836384,3.0,4.834843100189036,6.4035087719298245,3.0,56.79248851570687,yellow_watchlist,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.64; detectability=0.60,1395670,1395670,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id
+6:123516188:TC:T,TRDN,VCV002682850,2682850,NM_006073.4(TRDN):c.502del (p.Glu168fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.751489341268484e-06,5.0,1332804.0,6.617783307303386e-05,5.0,sas,17.64041169053291,6.617783307303386e-05,popmax,5.0,True,False,True,False,True,0.390625,0.6043553875236295,18.46603235431506,11.770381108229664,6.232543582221728,3.0,4.834843100189036,3.90625,8.0,56.21005014495549,yellow_watchlist,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,2682850,2682850,,,,unmatched
+6:123516150:C:A,TRDN,VCV001427034,1427034,NM_006073.4(TRDN):c.541G>T (p.Glu181Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.79663424697027e-05,91.0,1338898.0,8.552347090760583e-05,89.0,nfe,1.2583209209383106,8.552347090760583e-05,popmax,91.0,True,False,False,True,False,0.390625,0.811340206185567,20.9719197711187,20.0,0.4989570863816855,0.0,6.490721649484536,3.90625,3.0,54.86784850698492,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.39; detectability=0.81,1427034,1427034,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,variation_id
+3:38580945:C:A,SCN5A,VCV003075756,3075756,NM_000335.5(SCN5A):c.3214G>T (p.Glu1072Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.068392073370004e-06,3.0,1450402.0,6.006366748753679e-05,2.0,afr,29.03880759457191,6.006366748753679e-05,popmax,2.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,17.518766713295044,7.216976134290603,7.314893895930626,0.0,6.490721649484536,6.637931034482759,8.0,53.17928942748357,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3075756,3075756,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+6:123636725:T:C,TRDN,VCV001070395,1070395,NM_006073.4(TRDN):c.22+29A>G,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,5.278376069899409e-05,77.0,1458782.0,6.756756756756757e-05,75.0,nfe,1.2800824797762609,6.756756756756757e-05,popmax,77.0,True,False,False,True,False,0.390625,0.811340206185567,18.66911154823352,20.0,0.5361897676051981,0.0,6.490721649484536,3.90625,3.0,52.60227296532325,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.39; detectability=0.81,1070395,1070395,Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:115768378:T:C,CASQ2,VCV000427946,427946,NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,3.078341745187184e-05,45.0,1461826.0,4.9675453702477146e-05,3.0,remaining,1.6137081974876168,4.9675453702477146e-05,popmax,45.0,True,False,False,True,False,0.5125,0.811340206185567,15.663191649724624,20.0,1.0391250259135152,0.0,6.490721649484536,5.125,3.0,51.31803832512267,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.51; detectability=0.81,427946,427946,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+11:2768920:G:A,KCNQ1,VCV000871731,871731,NM_000218.3(KCNQ1):c.1590+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.053657975586114e-06,3.0,1460808.0,6.709308046696784e-05,3.0,amr,32.6700208089902,6.709308046696784e-05,popmax,3.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,18.600249121064188,9.10680994787812,7.570747055485044,0.0,6.490721649484536,6.4035087719298245,3.0,51.172036545841706,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,871731,871731,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id
+6:123636745:TAGCAATACCTTC:T,TRDN,VCV002051520,2051520,NM_006073.4(TRDN):c.19_22+8del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,1.3703867642564762e-06,2.0,1459442.0,5.052801778586226e-05,2.0,eas,36.871329490654766,5.052801778586226e-05,popmax,2.0,True,False,True,False,True,0.390625,0.6043553875236295,15.829476070387653,7.216976134290603,7.833443987467161,3.0,4.834843100189036,3.90625,8.0,50.62098929233445,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,2051520,2051520,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+12:2651596:CT:C,CACNA1C,VCV002632714,2632714,NM_000719.7(CACNA1C):c.3946-43del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,2.0525170701003e-06,3.0,1461620.0,3.747423646243208e-05,2.0,fin,18.257689424678656,3.747423646243208e-05,popmax,2.0,True,False,True,False,True,0.7307692307692307,0.6043553875236295,12.908988100114692,7.216976134290603,6.307229075847438,3.0,4.834843100189036,7.3076923076923075,8.0,49.57572871813407,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.73; detectability=0.60,2632714,2632714,CACNA1C-related disorder,CACNA1C-related disorder,CACNA1C-related disorder,variation_id
+1:115705191:C:A,CASQ2,VCV000519365,519365,NM_001232.4(CASQ2):c.939+1G>T,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.1733855056306896e-05,46.0,1449556.0,4.178991663820107e-05,46.0,nfe,1.316887477023001,4.178991663820107e-05,popmax,46.0,True,False,False,True,False,0.5125,0.811340206185567,13.974109092309089,20.0,0.5977433387582941,0.0,6.490721649484536,5.125,3.0,49.18757408055192,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.51; detectability=0.81,519365,519365,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,variation_id
+1:115705294:T:C,CASQ2,VCV001523438,1523438,NM_001232.4(CASQ2):c.839-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3783198556623447e-06,2.0,1451042.0,4.473272198613286e-05,2.0,amr,32.45450636719618,4.473272198613286e-05,popmax,2.0,True,False,True,False,True,0.5125,0.811340206185567,14.639070048853554,7.216976134290603,7.556375039507466,0.0,6.490721649484536,5.125,8.0,49.02814287213616,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,1523438,1523438,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+3:38608210:AT:A,SCN5A,VCV004756593,4756593,NM_000335.5(SCN5A):c.938del (p.Asn313fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.876056334154334e-07,1.0,1454322.0,3.8337678270203954e-05,1.0,asj,55.75524930551588,3.8337678270203954e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.6043553875236295,13.13158094533609,4.55340497393906,8.731428810358667,3.0,4.834843100189036,6.637931034482759,8.0,48.88918886430561,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,4756593,4756593,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+1:115768444:C:T,CASQ2,VCV000862119,862119,NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.0267488613355128e-05,15.0,1460922.0,3.827311696264544e-05,1.0,asj,3.727602306299179,3.827311696264544e-05,popmax,15.0,True,False,False,False,False,0.5125,0.811340206185567,13.115111488979696,18.21361989575624,2.857147858816272,0.0,6.490721649484536,5.125,3.0,48.80160089303674,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,862119,862119,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,variation_id
+11:2570686:G:C,KCNQ1,VCV000378906,378906,NM_000218.3(KCNQ1):c.536G>C (p.Gly179Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.054848002893226e-06,3.0,1459962.0,3.8743171516020304e-05,2.0,fin,18.854510701988296,3.8743171516020304e-05,popmax,2.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,13.234391558868406,7.216976134290603,6.377076332028593,0.0,6.490721649484536,6.4035087719298245,8.0,47.72267444660197,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,378906,378906,,,,unmatched
+11:2445144:GGT:G,KCNQ1,VCV002744490,2744490,NM_000218.3(KCNQ1):c.47_48del (p.Gly16fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.0193098049448758e-06,1.0,981056.0,3.807493146512336e-05,1.0,sas,37.35360429852644,3.807493146512336e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,13.064380687913092,4.55340497393906,7.861662569102269,3.0,4.834843100189036,6.4035087719298245,8.0,47.71780010307328,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,2744490,2744490,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+4:113355492:C:T,ANK2,VCV004081881,4081881,NM_001148.6(ANK2):c.6874C>T (p.Arg2292Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,LOF,1.3682492293336216e-06,2.0,1461722.0,3.8267258533598655e-05,1.0,asj,27.96802712924517,3.8267258533598655e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,13.113615641202188,4.55340497393906,7.233309161120902,0.0,6.490721649484536,6.136363636363637,10.0,47.52741506211032,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,4081881,4081881,,,,unmatched
+1:115740767:G:A,CASQ2,VCV000801535,801535,NM_001232.4(CASQ2):c.381C>T (p.Gly127=),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,other_or_unresolved,8.897357347985227e-06,13.0,1461108.0,6.707807888382076e-05,3.0,amr,7.5391006251884125,6.707807888382076e-05,popmax,3.0,True,False,True,False,False,0.5125,0.811340206185567,18.59806400383485,9.10680994787812,4.386597699630847,0.0,6.490721649484536,5.125,3.0,46.70719330082835,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,801535,801535,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123571097:T:TAAAA,TRDN,VCV001749169,1749169,NM_006073.4(TRDN):c.57_58insTTTT (p.Lys20delinsPheTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,1.573551204040332e-05,23.0,1461662.0,2.9870362626202283e-05,1.0,afr,1.898277072346201,2.9870362626202283e-05,popmax,23.0,True,False,False,True,False,0.390625,0.5866666666666666,10.692911463985178,20.0,1.391798011501853,3.0,4.6933333333333325,3.90625,3.0,46.684292808820366,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=insertion; gene_constraint=0.39; detectability=0.59,1749169,1749169,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+15:73343470:C:T,HCN4,VCV001514023,1514023,NM_005477.3(HCN4):c.1124G>A (p.Arg375His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0521436008006096e-06,3.0,1461886.0,3.744056310606911e-05,2.0,fin,18.24460327574495,3.744056310606911e-05,popmax,2.0,True,False,True,False,True,0.5,0.811340206185567,12.900203628834737,7.216976134290603,6.305672120901788,0.0,6.490721649484536,5.0,8.0,45.91357353351166,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,1514023,1514023,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id
+7:150947326:A:G,KCNH2,VCV000373047,373047,NM_000238.4(KCNH2):c.3152+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.203770165153635e-07,1.0,1388162.0,2.8064660978895374e-05,1.0,amr,38.95824322159453,2.8064660978895374e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.811340206185567,10.083595855158398,4.55340497393906,7.952996823120984,0.0,6.490721649484536,8.26388888888889,8.0,45.34460819059187,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,373047,373047,,,,unmatched
+3:38575364:T:TG,SCN5A,VCV000924057,924057,NM_000335.5(SCN5A):c.3595dup (p.His1199fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.851933821282381e-07,1.0,1459442.0,3.832592365476008e-05,1.0,asj,55.9343824970053,3.832592365476008e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.382680412371134,13.128584433326132,4.55340497393906,8.738394239650557,6.0,3.0614432989690723,6.637931034482759,3.0,45.11975798036759,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.66; detectability=0.38,924057,924057,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+11:2572072:G:GGA,KCNQ1,VCV001455898,1455898,NM_000218.3(KCNQ1):c.745_746dup (p.Leu250fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.84671706763324e-07,1.0,1460554.0,3.828190797029324e-05,1.0,asj,55.91271361066016,3.828190797029324e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.382680412371134,13.117355690081434,4.55340497393906,8.737552851879759,6.0,3.0614432989690723,6.4035087719298245,3.0,44.87326558679914,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.64; detectability=0.38,1455898,1455898,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id
+3:38608150:C:A,SCN5A,VCV002452890,2452890,NM_000335.5(SCN5A):c.998+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.903779266846257e-07,1.0,1448482.0,3.0111412225233363e-05,1.0,afr,43.61577687464475,3.0111412225233363e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,10.77145062355202,4.55340497393906,8.198218062193659,0.0,6.490721649484536,6.637931034482759,8.0,44.65172634365204,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2452890,2452890,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+6:123512325:T:TG,TRDN,VCV003673082,3673082,NM_006073.4(TRDN):c.587dup (p.Glu197fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.1833916893360138e-05,16.0,1352046.0,1.5570594154409688e-05,16.0,nfe,1.3157599448231894,1.5570594154409688e-05,popmax,16.0,True,False,False,False,True,0.390625,0.382680412371134,4.3268672904939125,18.61187363214038,0.5958833060079006,6.0,3.0614432989690723,3.90625,8.0,44.50231752761127,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,3673082,3673082,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+11:2572900:T:A,KCNQ1,VCV000375594,375594,NM_000218.3(KCNQ1):c.835T>A (p.Phe279Ile),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,1.3684626827068738e-06,2.0,1461494.0,2.3186792802819512e-05,2.0,sas,16.943667629494662,2.3186792802819512e-05,popmax,2.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,8.217915747967623,7.216976134290603,6.145037118180784,0.0,6.490721649484536,6.4035087719298245,10.0,44.47415942185337,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,375594,375594,Short QT syndrome type 2,Short QT syndrome type 2,Short QT syndrome type 2,variation_id
+7:150947380:GCCGC:G,KCNH2,VCV001454593,1454593,NM_000238.4(KCNH2):c.3096_3099del (p.Arg1033fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.432334375595314e-06,2.0,1396322.0,3.980891719745223e-05,1.0,asj,27.793014733652488,3.980891719745223e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,13.499558456497171,4.55340497393906,7.219678288254904,3.0,4.834843100189036,8.26388888888889,3.0,44.37137370776905,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,1454593,1454593,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+4:113373174:G:T,ANK2,VCV003023363,3023363,NM_001148.6(ANK2):c.11694+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.843090668214118e-07,1.0,1461328.0,2.988464526926065e-05,1.0,afr,43.6712065454092,2.988464526926065e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,10.697582692286032,4.55340497393906,8.200975953741672,0.0,6.490721649484536,6.136363636363637,8.0,44.07904890581493,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3023363,3023363,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+6:123516183:C:CT,TRDN,VCV002980846,2980846,NM_006073.4(TRDN):c.507dup (p.Gly170fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.506995472985599e-06,2.0,1327144.0,2.676874481355569e-05,2.0,sas,17.762978409977666,2.676874481355569e-05,popmax,2.0,True,False,True,False,True,0.390625,0.382680412371134,9.621630535950798,7.216976134290603,6.247578939692527,6.0,3.0614432989690723,3.90625,8.0,44.053878908903,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,2980846,2980846,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+7:150948445:CTTGT:C,KCNH2,VCV003076018,3076018,NM_000238.4(KCNH2):c.2687_2690del (p.Asp896fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3790573591327384e-06,2.0,1450266.0,2.520923666431381e-05,1.0,eas,18.280036879778883,2.520923666431381e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.6043553875236295,9.035093534989963,4.55340497393906,6.309885337915842,3.0,4.834843100189036,8.26388888888889,8.0,43.99711583592279,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3076018,3076018,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id
+11:2587636:GC:G,KCNQ1,VCV003720989,3720989,NM_000218.3(KCNQ1):c.1201del (p.Arg401fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.368365309750013e-06,2.0,1461598.0,2.31862551879246e-05,2.0,sas,16.94448045286974,2.31862551879246e-05,popmax,2.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,8.217689177940336,7.216976134290603,6.145141285781141,3.0,4.834843100189036,6.4035087719298245,8.0,43.81815847013094,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,3720989,3720989,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+6:123516189:C:A,TRDN,VCV000838068,838068,NM_006073.4(TRDN):c.502G>T (p.Glu168Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.0270178963157825e-05,27.0,1332006.0,2.603458550047152e-05,27.0,nfe,1.2843786561239623,2.603458550047152e-05,popmax,27.0,True,False,False,True,False,0.390625,0.811340206185567,9.349890396693658,20.0,0.5434653991227222,0.0,6.490721649484536,3.90625,3.0,43.29032744530092,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.39; detectability=0.81,838068,838068,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id
+12:2593260:C:T,CACNA1C,VCV004055971,4055971,NM_000719.7(CACNA1C):c.2578C>T (p.Arg860Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842753524018065e-07,1.0,1461400.0,3.827018752391887e-05,1.0,asj,55.92797177571708,3.827018752391887e-05,popmax,1.0,True,False,True,False,False,0.7307692307692307,0.811340206185567,13.114363536467756,4.55340497393906,8.738145349762476,0.0,6.490721649484536,7.3076923076923075,3.0,43.20432781734613,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.73; detectability=0.81,4055971,4055971,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+3:38566555:G:A,SCN5A,VCV000440848,440848,NM_198056.2(SCN5A):c.[3694C>T;4859C>T],Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,other_or_unresolved,3.4209226365187595e-06,5.0,1461594.0,2.9870362626202283e-05,1.0,afr,8.731666298344887,2.9870362626202283e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,10.692911463985178,4.55340497393906,4.705485648723811,0.0,6.490721649484536,6.637931034482759,10.0,43.08045477061535,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,440848,440848,,,,unmatched
+7:150952752:C:T,KCNH2,VCV003381030,3381030,NM_000238.4(KCNH2):c.1230G>A (p.Trp410Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840469310918484e-07,1.0,1461888.0,2.235935962794025e-05,1.0,amr,32.686833205169094,2.235935962794025e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.811340206185567,7.86283606399323,4.55340497393906,7.571864234571959,0.0,6.490721649484536,8.26388888888889,8.0,42.74271581087767,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3381030,3381030,,,,unmatched
+3:38613742:C:A,SCN5A,VCV001171509,1171509,NM_000335.5(SCN5A):c.703+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.932745436520316e-07,1.0,1442430.0,2.56068831301854e-05,1.0,eas,36.93608459818682,2.56068831301854e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,9.188026567224757,4.55340497393906,7.837254281248514,0.0,6.490721649484536,6.637931034482759,8.0,42.70733850637963,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,1171509,1171509,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+3:38581117:TGGGGGTGGCGGGGAGTA:T,SCN5A,VCV002754396,2754396,NM_000335.5(SCN5A):c.3025_3041del (p.Tyr1009fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.972392116176787e-07,1.0,1434228.0,2.27004449287206e-05,1.0,amr,32.557568468480774,2.27004449287206e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.6043553875236295,8.01077374304839,4.55340497393906,7.563259812757562,3.0,4.834843100189036,6.637931034482759,8.0,42.60021266441681,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,2754396,2754396,,,,unmatched
+3:38587561:TC:T,SCN5A,VCV001214434,1214434,NM_000335.5(SCN5A):c.2274del (p.Ile759fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.052421583812688e-06,3.0,1461688.0,3.3126842680624107e-05,2.0,remaining,16.140362097890165,3.3126842680624107e-05,popmax,2.0,True,False,True,False,False,0.6637931034482759,0.6043553875236295,11.70405131304097,7.216976134290603,6.039566367962358,3.0,4.834843100189036,6.637931034482759,3.0,42.43336794996573,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.66; detectability=0.60,1214434,1214434,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+11:2572110:G:A,KCNQ1,VCV001067403,1067403,NM_000218.3(KCNQ1):c.780+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.854366642813471e-07,1.0,1458924.0,2.520034272466105e-05,1.0,eas,36.76533263033125,2.520034272466105e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,9.031645450357535,4.55340497393906,7.827192497787115,0.0,6.490721649484536,6.4035087719298245,8.0,42.30647334349807,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,1067403,1067403,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2583509:CTCTG:C,KCNQ1,VCV002830594,2830594,NM_000218.3(KCNQ1):c.1000_1003del (p.Val334fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.841311671004058e-07,1.0,1461708.0,2.235935962794025e-05,1.0,amr,32.68280853202259,2.235935962794025e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,7.86283606399323,4.55340497393906,7.571596848474263,3.0,4.834843100189036,6.4035087719298245,8.0,42.226189758525415,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,2830594,2830594,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+1:237795312:A:C,RYR2,VCV000852605,852605,NM_001035.3(RYR2):c.13937A>C (p.Asp4646Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,9.531449812945298e-06,12.0,1258990.0,1.2573555298496204e-05,12.0,nfe,1.319164998619016,1.2573555298496204e-05,popmax,12.0,True,False,True,False,True,0.8035714285714286,0.811340206185567,2.237807940724398,16.849600618345303,0.601495598308596,0.0,6.490721649484536,8.035714285714286,8.0,42.21534009257712,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,852605,852605,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:115727014:C:A,CASQ2,VCV001757434,1757434,NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.2557001542898904e-06,3.0,1329964.0,3.53090720775858e-05,3.0,sas,15.653258416096053,3.53090720775858e-05,popmax,3.0,True,False,True,False,False,0.5125,0.811340206185567,12.327442126962277,9.10680994787812,5.9730237748543935,0.0,6.490721649484536,5.125,3.0,42.022997499179326,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,1757434,1757434,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id
+7:150947827:GC:G,KCNH2,VCV001420193,1420193,NM_000238.4(KCNH2):c.2743del (p.Ala915fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,7.281115117342451e-07,1.0,1373416.0,2.8638524543215534e-05,1.0,fin,39.3325551775003,2.8638524543215534e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,10.281389726816125,4.55340497393906,7.973760802916131,3.0,4.834843100189036,8.26388888888889,3.0,41.90728749274924,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,1420193,1420193,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,variation_id
+12:2593252:C:G,CACNA1C,VCV000633643,633643,NM_000719.7(CACNA1C):c.2570C>G (p.Pro857Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842613057074236e-07,1.0,1461430.0,2.2369362920544025e-05,1.0,amr,32.691211738483084,2.2369362920544025e-05,popmax,1.0,True,False,True,False,True,0.7307692307692307,0.811340206185567,7.8672067870637745,4.55340497393906,7.572155092590362,0.0,6.490721649484536,7.3076923076923075,8.0,41.79118081077004,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,633643,633643,Long QT syndrome 8|Long QT syndrome,Long QT syndrome 8|Long QT syndrome,Long QT syndrome 8|Long QT syndrome,variation_id
+4:113356680:C:T,ANK2,VCV003906496,3906496,NM_001148.6(ANK2):c.8062C>T (p.Arg2688Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052244676819349e-06,3.0,1461814.0,2.987571701720841e-05,1.0,afr,14.557573859047409,2.987571701720841e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,10.69466291292472,4.55340497393906,5.815445011071998,0.0,6.490721649484536,6.136363636363637,8.0,41.69059818378395,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3906496,3906496,,,,unmatched
+21:34449497:G:T,KCNE1,VCV000547162,547162,NM_000219.6(KCNE1):c.138C>A (p.Tyr46Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.000828228591091e-06,3.0,999724.0,2.9429942023014216e-05,2.0,sas,9.807270184725496,2.9429942023014216e-05,popmax,2.0,True,False,True,False,True,0.4166666666666667,0.811340206185567,10.547761979187364,7.216976134290603,4.95774070015624,0.0,6.490721649484536,4.166666666666667,8.0,41.37986712978541,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.42; detectability=0.81,547162,547162,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5|Long QT syndrome,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5|Long QT syndrome,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5|Long QT syndrome,variation_id
+1:115726996:G:A,CASQ2,VCV000859128,859128,NM_001232.4(CASQ2):c.733C>T (p.Gln245Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.6498437597959474e-06,2.0,1212236.0,2.4118469924268005e-05,2.0,sas,14.618630499060393,2.4118469924268005e-05,popmax,2.0,True,False,True,False,True,0.5125,0.811340206185567,8.602869840903006,7.216976134290603,5.82453344499717,0.0,6.490721649484536,5.125,8.0,41.26010106967532,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,859128,859128,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id
+11:2775959:G:A,KCNQ1,VCV000666975,666975,NM_000218.3(KCNQ1):c.1591-1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.4245501270698712e-06,2.0,1403952.0,3.968253968253968e-05,1.0,asj,27.85617162380255,3.968253968253968e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,13.468488078660226,4.55340497393906,7.224607147499393,0.0,6.490721649484536,6.4035087719298245,3.0,41.14073062151304,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,666975,666975,Congenital long QT syndrome|Long QT syndrome,Congenital long QT syndrome|Long QT syndrome,Congenital long QT syndrome|Long QT syndrome,variation_id
+3:38580930:C:T,SCN5A,VCV004614938,4614938,NM_000335.5(SCN5A):c.3228+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.386107049047398e-06,2.0,1442890.0,2.540779511154022e-05,1.0,eas,18.330314241376573,2.540779511154022e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,9.111757403326108,4.55340497393906,6.3158495512502615,0.0,6.490721649484536,6.637931034482759,8.0,41.109664612482725,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4614938,4614938,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150947785:TC:T,KCNH2,VCV000972416,972416,NM_000238.4(KCNH2):c.2785del (p.Glu929fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,7.232300030520306e-07,1.0,1382686.0,2.6745119015779625e-05,1.0,fin,36.98005188233825,2.6745119015779625e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,9.613002399391142,4.55340497393906,7.839837580654089,3.0,4.834843100189036,8.26388888888889,3.0,41.10497694306222,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,972416,972416,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+1:115717895:C:T,CASQ2,VCV002914884,2914884,NM_001232.4(CASQ2):c.784-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.873948285912256e-07,1.0,1454768.0,2.5218136884047006e-05,1.0,eas,36.68648664297249,2.5218136884047006e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,9.038542836767386,4.55340497393906,7.822530613204668,0.0,6.490721649484536,5.125,8.0,41.03020007339565,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2914884,2914884,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:115744827:C:G,CASQ2,VCV001515619,1515619,NM_001232.4(CASQ2):c.319+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.866537850416593e-07,1.0,1456338.0,2.521050773962588e-05,1.0,eas,36.71496840744561,2.521050773962588e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,9.03558621784762,4.55340497393906,7.824215794207941,0.0,6.490721649484536,5.125,8.0,41.028928635479154,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,1515619,1515619,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+11:2570755:G:A,KCNQ1,VCV000926958,926958,NM_000218.3(KCNQ1):c.604+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.371599119982005e-06,2.0,1458152.0,2.5191455058444177e-05,1.0,eas,18.366472626711847,2.5191455058444177e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,9.028198582011438,4.55340497393906,6.320128779391975,0.0,6.490721649484536,6.4035087719298245,8.0,40.79596275675683,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,926958,926958,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+4:113232260:G:A,ANK2,VCV002101362,2101362,NM_001148.6(ANK2):c.483+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.081932291061752e-07,1.0,1412044.0,2.239741981723705e-05,1.0,amr,31.6260990230113,2.239741981723705e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,7.879455222339948,4.55340497393906,7.500228132000161,0.0,6.490721649484536,6.136363636363637,8.0,40.560173614127336,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2101362,2101362,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+1:115727123:CTGTAACCATT:C,CASQ2,VCV003019374,3019374,NM_001232.4(CASQ2):c.607-11_607-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,8.92116979868351e-06,13.0,1457208.0,1.173325438959098e-05,13.0,nfe,1.3152147464010495,1.173325438959098e-05,popmax,13.0,True,False,True,False,True,0.5125,0.6043553875236295,1.5619167845981994,17.336428839648455,0.5949833480172113,3.0,4.834843100189036,5.125,8.0,40.4531720724529,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.51; detectability=0.60,3019374,3019374,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+7:150958081:CG:C,KCNH2,VCV001076966,1076966,NM_000238.4(KCNH2):c.893del (p.Pro298fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.5673706872718e-06,4.0,1121274.0,3.380434047731729e-05,1.0,sas,9.475979640116968,3.380434047731729e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,11.901880802626826,4.55340497393906,4.883120594680425,3.0,4.834843100189036,8.26388888888889,3.0,40.43713836032424,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,1076966,1076966,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,variation_id
+4:113282823:T:C,ANK2,VCV002664649,2664649,NM_001148.6(ANK2):c.2030T>C (p.Met677Thr),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,2.0523373385836683e-06,3.0,1461748.0,2.237236565394425e-05,1.0,amr,10.90091542575946,2.237236565394425e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,7.868518385294778,4.55340497393906,5.187314851016116,0.0,6.490721649484536,6.136363636363637,10.0,40.23632349609812,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2664649,2664649,,,,unmatched
+3:38551291:A:AAGTT,SCN5A,VCV001457006,1457006,NM_000335.5(SCN5A):c.5074_5077dup (p.Phe1693Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.840441235821475e-07,1.0,1461894.0,1.6557387906483872e-05,1.0,remaining,24.20511211274717,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.382680412371134,4.927316620159899,4.55340497393906,6.919535492689683,6.0,3.0614432989690723,6.637931034482759,8.0,40.09963142024048,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.66; detectability=0.38,1457006,1457006,,,,unmatched
+11:2847865:C:CA,KCNQ1,VCV000405260,405260,NM_000218.3(KCNQ1):c.1894dup (p.Arg632fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,7.015476140365646e-07,1.0,1425420.0,2.484225170169424e-05,1.0,amr,35.410593371081,2.484225170169424e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.382680412371134,8.891796942507975,4.55340497393906,7.745666021199067,6.0,3.0614432989690723,6.4035087719298245,3.0,39.655820008545,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.64; detectability=0.38,405260,405260,Long QT syndrome||Cardiac arrhythmia,Long QT syndrome||Cardiac arrhythmia,Long QT syndrome||Cardiac arrhythmia,variation_id
+3:38581292:ATC:A,SCN5A,VCV000418944,418944,NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,4.791389735748012e-06,7.0,1460954.0,3.826432999158185e-05,1.0,asj,7.986059393172863,3.826432999158185e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.6043553875236295,13.112867803174236,4.55340497393906,4.511662678822849,3.0,4.834843100189036,6.637931034482759,3.0,39.65070959060794,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.66; detectability=0.60,418944,418944,Cardiac arrhythmia|Cardiovascular phenotype|Brugada syndrome|Long QT syndrome 3,Cardiac arrhythmia|Cardiovascular phenotype|Brugada syndrome|Long QT syndrome 3,Cardiac arrhythmia|Cardiovascular phenotype|Brugada syndrome|Long QT syndrome 3,variation_id
+1:115705275:C:A,CASQ2,VCV000651334,651334,NM_001232.4(CASQ2):c.856G>T (p.Glu286Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.846004603253495e-07,1.0,1460706.0,2.2361359570661896e-05,1.0,amr,32.66332584221321,2.2361359570661896e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,7.8637100522238415,4.55340497393906,7.570302016728117,0.0,6.490721649484536,5.125,8.0,39.60313869237555,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,651334,651334,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:115705293:C:G,CASQ2,VCV004778592,4778592,NM_001232.4(CASQ2):c.839-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.880825478871049e-07,1.0,1453314.0,2.236736154603203e-05,1.0,amr,32.50675388870347,2.236736154603203e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,7.866332486038185,4.55340497393906,7.559868015950208,0.0,6.490721649484536,5.125,8.0,39.59532712541199,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,4778592,4778592,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+3:38551460:G:A,SCN5A,VCV000523778,523778,NM_000335.5(SCN5A):c.4909C>T (p.Arg1637Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.104371429196857e-06,6.0,1461856.0,3.311587243765937e-05,2.0,remaining,8.068437747531474,3.311587243765937e-05,popmax,2.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,11.70081481806312,7.216976134290603,4.5339472626392565,0.0,6.490721649484536,6.637931034482759,3.0,39.58039089896028,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,523778,523778,Brugada syndrome|Cardiovascular phenotype,Brugada syndrome|Cardiovascular phenotype,Brugada syndrome|Cardiovascular phenotype,variation_id
+3:38603712:C:T,SCN5A,VCV000505275,505275,NM_000335.5(SCN5A):c.1890G>A (p.Thr630=),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,other_or_unresolved,1.4756161804265416e-06,2.0,1355366.0,3.419271011420365e-05,1.0,amr,23.17180334286967,3.419271011420365e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,12.013504583463668,4.55340497393906,6.824799170111071,0.0,6.490721649484536,6.637931034482759,3.0,39.5203614114811,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,505275,505275,Cardiovascular phenotype|Cardiac arrhythmia|Brugada syndrome 1||Brugada syndrome,Cardiovascular phenotype|Cardiac arrhythmia|Brugada syndrome 1||Brugada syndrome,Cardiovascular phenotype|Cardiac arrhythmia|Brugada syndrome 1||Brugada syndrome,variation_id
+15:73329724:C:A,HCN4,VCV000404118,404118,NM_005477.3(HCN4):c.1439G>T (p.Gly480Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840693919991244e-07,1.0,1461840.0,2.236235967619303e-05,1.0,amr,32.69014554312366,2.236235967619303e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,7.864147075654932,4.55340497393906,7.572084270756659,0.0,6.490721649484536,5.0,8.0,39.48035796983519,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,404118,404118,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id
+6:123377715:C:A,TRDN,VCV003780742,3780742,NM_006073.4(TRDN):c.1246+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.053511778943564e-06,3.0,1460912.0,2.990251779199809e-05,1.0,afr,14.561642420059124,2.990251779199809e-05,popmax,1.0,True,False,True,False,True,0.390625,0.811340206185567,10.70342486961894,4.55340497393906,5.816051810922391,0.0,6.490721649484536,3.90625,8.0,39.469853303964925,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,3780742,3780742,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123530549:CTT:C,TRDN,VCV001403180,1403180,NM_006073.4(TRDN):c.439_440del (p.Lys147fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,9.0703770555742e-07,1.0,1102490.0,2.2095541119802024e-05,1.0,remaining,24.360087374907803,2.2095541119802024e-05,popmax,1.0,True,False,True,False,True,0.390625,0.6043553875236295,7.746854885003509,4.55340497393906,6.933394208468446,3.0,4.834843100189036,3.90625,8.0,38.97474716760005,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,1403180,1403180,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+3:38562432:G:A,SCN5A,VCV000496571,496571,NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.856199444099349e-07,1.0,1458534.0,2.524614996213077e-05,1.0,eas,36.822315840800826,2.524614996213077e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,9.049391432957496,4.55340497393906,7.83055549406824,0.0,6.490721649484536,6.637931034482759,3.0,37.5620045849321,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,496571,496571,Brugada syndrome (shorter-than-normal QT interval)||Brugada syndrome 1|Cardiovascular phenotype,Brugada syndrome (shorter-than-normal QT interval)||Brugada syndrome 1|Cardiovascular phenotype,Brugada syndrome (shorter-than-normal QT interval)||Brugada syndrome 1|Cardiovascular phenotype,variation_id
+11:2445417:C:T,KCNQ1,VCV002440963,2440963,NM_000218.3(KCNQ1):c.319C>T (p.Gln107Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3834281903929214e-06,2.0,1445684.0,2.3213705371651425e-05,2.0,sas,16.779829811931517,2.3213705371651425e-05,popmax,2.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,8.229250952613919,7.216976134290603,6.123937758591581,0.0,6.490721649484536,6.4035087719298245,3.0,37.46439526691046,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,2440963,2440963,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+1:237784169:A:C,RYR2,VCV003255050,3255050,NM_001035.3(RYR2):c.12457A>C (p.Ser4153Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.3682773114992762e-06,2.0,1461692.0,1.6563421340312053e-05,1.0,remaining,12.105302116616071,1.6563421340312053e-05,popmax,1.0,True,False,True,False,True,0.8035714285714286,0.811340206185567,4.930876705577447,4.55340497393906,5.414878163825536,0.0,6.490721649484536,8.035714285714286,8.0,37.42559577854087,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,3255050,3255050,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+11:2572980:G:A,KCNQ1,VCV002440959,2440959,NM_000218.3(KCNQ1):c.915G>A (p.Trp305Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.845723408129707e-07,1.0,1460766.0,2.5192724341210258e-05,1.0,eas,36.80062286867968,2.5192724341210258e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,9.028690917341178,4.55340497393906,7.829275846919392,0.0,6.490721649484536,6.4035087719298245,3.0,37.30560215961399,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,2440959,2440959,,,,unmatched
+11:2445200:C:A,KCNQ1,VCV002899907,2899907,NM_000218.3(KCNQ1):c.102C>A (p.Cys34Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.003045087718947e-06,3.0,998986.0,3.278043663541598e-05,1.0,sas,10.915729122331037,3.278043663541598e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,11.601331814792106,4.55340497393906,5.190263749803998,0.0,6.490721649484536,6.4035087719298245,3.0,37.23923095994952,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,2899907,2899907,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,variation_id
+6:123530547:GTCTTA:G,TRDN,VCV000449691,449691,NM_006073.4(TRDN):c.438_442del (p.Asp146_Lys147insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,8.154670542249349e-06,9.0,1103662.0,3.4233679093492176e-05,2.0,sas,4.198045245124528,3.4233679093492176e-05,popmax,2.0,True,False,True,False,False,0.390625,0.6043553875236295,12.02520572910473,7.216976134290603,3.1152355747598097,3.0,4.834843100189036,3.90625,3.0,37.098510538344186,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,449691,449691,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype,variation_id
+4:113367670:T:G,ANK2,VCV004278327,4278327,NM_001148.6(ANK2):c.11137T>G (p.Ser3713Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840721997162468e-07,1.0,1461834.0,1.6559032952475575e-05,1.0,remaining,24.206523452964174,1.6559032952475575e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,4.928287423921334,4.55340497393906,6.919662102183732,0.0,6.490721649484536,6.136363636363637,8.0,37.0284397858923,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,4278327,4278327,"Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related",variation_id
+4:113354772:C:T,ANK2,VCV003359793,3359793,NM_001148.6(ANK2):c.6154C>T (p.Arg2052Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3683166284678274e-06,2.0,1461650.0,1.872308556450103e-05,1.0,fin,13.683289738411244,1.872308556450103e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,6.128492517596933,4.55340497393906,5.680952615385102,0.0,6.490721649484536,6.136363636363637,8.0,36.98993539276927,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3359793,3359793,,,,unmatched
+6:123516159:CT:C,TRDN,VCV001075032,1075032,NM_006073.4(TRDN):c.531del (p.Glu178fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.240414387045028e-06,3.0,1339038.0,3.33000333000333e-05,1.0,afr,14.863330475494562,3.33000333000333e-05,popmax,1.0,True,False,True,False,False,0.390625,0.6043553875236295,11.755005318964844,4.55340497393906,5.860580670631089,3.0,4.834843100189036,3.90625,3.0,36.91008406372403,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,1075032,1075032,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,variation_id
+7:150959590:T:TG,KCNH2,VCV000503669,503669,NM_000238.4(KCNH2):c.453dup (p.Thr152fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.3683035225605884e-06,2.0,1461664.0,1.8775111711914684e-05,1.0,fin,13.721443145404296,1.8775111711914684e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.382680412371134,6.1556074395176905,4.55340497393906,5.68699895230755,6.0,3.0614432989690723,8.26388888888889,3.0,36.72134355362226,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.83; detectability=0.38,503669,503669,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,variation_id
+3:38620919:G:A,SCN5A,VCV000667015,667015,NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842435140557302e-07,1.0,1461468.0,2.2374367924106146e-05,1.0,amr,32.69937641368331,2.2374367924106146e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,7.869392881930953,4.55340497393906,7.572697353105923,0.0,6.490721649484536,6.637931034482759,3.0,36.12414789294324,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,667015,667015,Brugada syndrome|Brugada syndrome (shorter-than-normal QT interval)||Cardiac arrhythmia,Brugada syndrome|Brugada syndrome (shorter-than-normal QT interval)||Cardiac arrhythmia,Brugada syndrome|Brugada syndrome (shorter-than-normal QT interval)||Cardiac arrhythmia,variation_id
+17:70175675:G:A,KCNJ2,VCV001480008,1480008,NM_000891.3(KCNJ2):c.636G>A (p.Trp212Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840450594161539e-07,1.0,1461892.0,1.6557387906483872e-05,1.0,remaining,24.20507899806617,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,4.927316620159899,4.55340497393906,6.919532521926111,0.0,6.490721649484536,5.0,8.0,35.89097576550961,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,1480008,1480008,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id
+11:2585248:C:T,KCNQ1,VCV000842027,842027,NM_000218.3(KCNQ1):c.1069C>T (p.Gln357Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3682454851319603e-06,2.0,1461726.0,2.5188916876574308e-05,1.0,eas,18.40963463110593,2.5188916876574308e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,9.027213985763447,4.55340497393906,6.325225846575167,0.0,6.490721649484536,6.4035087719298245,3.0,35.800075227692034,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,842027,842027,Long QT syndrome|KCNQ1-related disorder,Long QT syndrome|KCNQ1-related disorder,Long QT syndrome|KCNQ1-related disorder,variation_id
+4:113333091:C:T,ANK2,VCV002576605,2576605,NM_001148.6(ANK2):c.3262C>T (p.Arg1088Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.368095733867073e-06,2.0,1461886.0,1.6557387906483872e-05,1.0,remaining,12.102498673235353,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,4.927316620159899,4.55340497393906,5.414375218511921,0.0,6.490721649484536,6.136363636363637,8.0,35.522182098459055,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2576605,2576605,"ANK2-associated Neurodevelopmental Disorder|Cardiac arrhythmia, ankyrin-B-related","ANK2-associated Neurodevelopmental Disorder|Cardiac arrhythmia, ankyrin-B-related","ANK2-associated Neurodevelopmental Disorder|Cardiac arrhythmia, ankyrin-B-related",variation_id
+7:150977912:A:G,KCNH2,VCV004813695,4813695,NM_000238.4(KCNH2):c.2T>C (p.Met1Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.93410107700458e-07,1.0,1442148.0,1.171042461999672e-05,1.0,sas,16.888142531826052,1.171042461999672e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.811340206185567,1.542885299143372,4.55340497393906,6.137909428275693,0.0,6.490721649484536,8.26388888888889,8.0,34.98881023973155,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,4813695,4813695,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+11:2583515:CTT:C,KCNQ1,VCV003000119,3000119,NM_000218.3(KCNQ1):c.1004_1005del (p.Phe335fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,4.105124015796517e-06,6.0,1461588.0,1.6558484567492383e-05,1.0,remaining,4.033612984689953,1.6558484567492383e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,4.927963811950888,4.55340497393906,3.028471131906448,3.0,4.834843100189036,6.4035087719298245,8.0,34.74819178991525,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,3000119,3000119,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+1:115738290:G:A,CASQ2,VCV000942279,942279,NM_001232.4(CASQ2):c.466C>T (p.Gln156Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052578860079804e-06,3.0,1461576.0,1.655958137378287e-05,1.0,remaining,8.067692125332965,1.655958137378287e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,4.928611046609361,4.55340497393906,4.533746582792739,0.0,6.490721649484536,5.125,8.0,33.6314842528257,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,942279,942279,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123516162:T:A,TRDN,VCV000583099,583099,NM_006073.4(TRDN):c.529A>T (p.Lys177Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.239026530971708e-06,3.0,1339868.0,1.8289560318969934e-05,1.0,remaining,8.168529000191663,1.8289560318969934e-05,popmax,1.0,True,False,True,False,True,0.390625,0.811340206185567,5.899574000431089,4.55340497393906,4.560719276163659,0.0,6.490721649484536,3.90625,8.0,33.41066990001834,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,583099,583099,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+3:38603999:G:A,SCN5A,VCV000517279,517279,NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.7902486960258726e-06,7.0,1461302.0,2.519018590357197e-05,1.0,eas,5.258637545443709,2.519018590357197e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,9.027706271486364,4.55340497393906,3.604366189265548,0.0,6.490721649484536,6.637931034482759,3.0,33.31413011865827,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,517279,517279,Brugada syndrome|Cardiovascular phenotype|Primary familial dilated cardiomyopathy||Cardiac arrhythmia|SCN5A-related disorder,Brugada syndrome|Cardiovascular phenotype|Primary familial dilated cardiomyopathy||Cardiac arrhythmia|SCN5A-related disorder,Brugada syndrome|Cardiovascular phenotype|Primary familial dilated cardiomyopathy||Cardiac arrhythmia|SCN5A-related disorder,variation_id
+6:123570930:G:GT,TRDN,VCV004077704,4077704,NM_006073.4(TRDN):c.224dup (p.Asn75fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.843811893723814e-07,1.0,1461174.0,1.160227404571296e-05,1.0,sas,16.952917866481776,1.160227404571296e-05,popmax,1.0,True,False,True,False,True,0.390625,0.382680412371134,1.4522210262051705,4.55340497393906,6.146222289760973,6.0,3.0614432989690723,3.90625,8.0,33.11954158887428,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,4077704,4077704,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id
+11:2572062:G:T,KCNQ1,VCV000405265,405265,NM_000218.3(KCNQ1):c.733G>T (p.Gly245Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.846370191451896e-07,1.0,1460628.0,1.1593396401409756e-05,1.0,sas,16.933616125912472,1.1593396401409756e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,1.4447412669586976,4.55340497393906,6.143748551865907,0.0,6.490721649484536,6.4035087719298245,8.0,33.03612521417803,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,405265,405265,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+3:38633181:G:A,SCN5A,VCV000924596,924596,NM_000335.5(SCN5A):c.127C>T (p.Arg43Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.843886834962407e-07,1.0,1461158.0,1.657000828500414e-05,1.0,remaining,24.21136625022659,1.657000828500414e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,4.93476191496682,4.55340497393906,6.920096487107972,0.0,6.490721649484536,6.637931034482759,3.0,32.53691605998115,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,924596,924596,Cardiac arrhythmia|Brugada syndrome 1;Long QT syndrome 3||Brugada syndrome 1,Cardiac arrhythmia|Brugada syndrome 1;Long QT syndrome 3||Brugada syndrome 1,Cardiac arrhythmia|Brugada syndrome 1;Long QT syndrome 3||Brugada syndrome 1,variation_id
+1:115732931:G:T,CASQ2,VCV001367739,1367739,NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.05254796462502e-06,3.0,1461598.0,2.236035955458164e-05,1.0,amr,10.893947447761208,2.236035955458164e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,7.863273048337192,4.55340497393906,5.185926379560558,0.0,6.490721649484536,5.125,3.0,32.21832605132135,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,1367739,1367739,Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype,variation_id
+17:70175721:C:T,KCNJ2,VCV000403974,403974,NM_000891.3(KCNJ2):c.682C>T (p.Arg228Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.104292816666712e-06,6.0,1461884.0,1.6557387906483872e-05,1.0,remaining,4.034162671114734,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,4.927316620159899,4.55340497393906,3.028767032278017,0.0,6.490721649484536,5.0,8.0,32.00021027586151,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,403974,403974,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id
+1:237640956:A:G,RYR2,VCV001805845,1805845,NM_001035.3(RYR2):c.7175A>G (p.Tyr2392Cys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0529075329389014e-06,3.0,1461342.0,1.656781205474005e-05,1.0,remaining,8.070409757137067,1.656781205474005e-05,popmax,1.0,True,False,True,False,False,0.8035714285714286,0.811340206185567,4.933466673522359,4.55340497393906,4.534477928099714,0.0,6.490721649484536,8.035714285714286,3.0,31.54778551075995,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.80; detectability=0.81,1805845,1805845,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123530506:CT:C,TRDN,VCV002732852,2732852,NM_006073.4(TRDN):c.483del (p.Val162fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.6582867511487022e-06,4.0,1093408.0,2.22727070248118e-05,1.0,remaining,6.088287619752758,2.22727070248118e-05,popmax,1.0,True,False,True,False,False,0.390625,0.6043553875236295,7.824893037576183,4.55340497393906,3.922475804818624,3.0,4.834843100189036,3.90625,3.0,31.041866916522903,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,2732852,2732852,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,variation_id
+21:34449418:G:A,KCNE1,VCV000418270,418270,NM_000219.6(KCNE1):c.217C>T (p.His73Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.879216099567022e-07,1.0,1453654.0,1.1603620329542817e-05,1.0,sas,16.86762604048317,1.1603620329542817e-05,popmax,1.0,True,False,True,False,True,0.4166666666666667,0.811340206185567,1.4533548226908253,4.55340497393906,6.135269820157655,0.0,6.490721649484536,4.166666666666667,8.0,30.79941793293874,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.42; detectability=0.81,418270,418270,Long QT syndrome 5,Long QT syndrome 5,Long QT syndrome 5,variation_id
+1:237707240:A:T,RYR2,VCV000649240,649240,NM_001035.3(RYR2):c.9872A>T (p.Asp3291Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,7.100769865468815e-07,1.0,1408298.0,1.27890321260487e-05,1.0,sas,18.0107444088528,1.27890321260487e-05,popmax,1.0,True,False,True,False,False,0.8035714285714286,0.811340206185567,2.403848526170763,4.55340497393906,6.277658315895527,0.0,6.490721649484536,8.035714285714286,3.0,30.76134775120417,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.80; detectability=0.81,649240,649240,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+11:2572019:C:CCG,KCNQ1,VCV000817280,817280,NM_000218.3(KCNQ1):c.692_693dup (p.Phe232fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.848423835254316e-07,1.0,1460190.0,1.1602543277486424e-05,1.0,sas,16.94189439015813,1.1602543277486424e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.382680412371134,1.4524477749782392,4.55340497393906,6.144809850868763,6.0,3.0614432989690723,6.4035087719298245,3.0,30.61561467068496,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.64; detectability=0.38,817280,817280,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+1:115725554:C:A,CASQ2,VCV003575248,3575248,NM_001232.4(CASQ2):c.738-1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.955567832684809e-06,7.0,1006388.0,2.285818780287099e-05,1.0,remaining,3.2863148008051355,2.285818780287099e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,8.07844085003294,4.55340497393906,2.583545813913104,0.0,6.490721649484536,5.125,3.0,29.83111328736964,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,3575248,3575248,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+3:38566408:C:T,SCN5A,VCV000488729,488729,NM_000335.5(SCN5A):c.3837+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.791376617260729e-06,7.0,1460958.0,1.8777932174108987e-05,1.0,fin,3.919109424075093,1.8777932174108987e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,6.157075256610451,4.55340497393906,2.9659369471539314,0.0,6.490721649484536,6.637931034482759,3.0,29.80506986167073,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,488729,488729,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+21:34449584:C:T,KCNE1,VCV000547164,547164,NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.0952014842170511e-06,1.0,913074.0,1.5943369152769364e-05,1.0,sas,14.55746346682834,1.5943369152769364e-05,popmax,1.0,True,False,True,False,False,0.4166666666666667,0.811340206185567,4.558052904933406,4.55340497393906,5.815428544415592,0.0,6.490721649484536,4.166666666666667,3.0,28.584274739439262,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.42; detectability=0.81,547164,547164,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome|Sensorineural hearing loss disorder|Long QT syndrome 5,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome|Sensorineural hearing loss disorder|Long QT syndrome 5,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome|Sensorineural hearing loss disorder|Long QT syndrome 5,variation_id
+11:2588855:G:A,KCNQ1,VCV002773478,2773478,NM_000218.3(KCNQ1):c.1393+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.8510794560791e-07,1.0,1459624.0,1.160631383472609e-05,1.0,sas,16.940830957078788,1.160631383472609e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,1.4556228103999276,4.55340497393906,6.144673544502126,0.0,6.490721649484536,6.4035087719298245,3.0,28.04793175025548,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,2773478,2773478,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id
+17:70175818:G:A,KCNJ2,VCV001477795,1477795,NM_000891.3(KCNJ2):c.779G>A (p.Arg260His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,4.104309661955375e-06,6.0,1461878.0,1.15931275939623e-05,1.0,sas,2.8246225855718,1.15931275939623e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,1.4445146969411835,4.55340497393906,2.254802136965795,0.0,6.490721649484536,5.0,8.0,27.74344345733057,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,1477795,1477795,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id
+6:123636753:C:A,TRDN,VCV000915308,915308,NM_006073.4(TRDN):c.22+1G>T,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.055515358810761e-06,3.0,1459488.0,1.6596408537192552e-05,1.0,remaining,8.074082926196981,1.6596408537192552e-05,popmax,1.0,True,False,True,False,False,0.390625,0.811340206185567,4.950318218612913,4.55340497393906,4.535466027950625,0.0,6.490721649484536,3.90625,3.0,27.43616086998713,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.39; detectability=0.81,915308,915308,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+15:73329709:G:A,HCN4,VCV001675066,1675066,NM_005477.3(HCN4):c.1454C>T (p.Ala485Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,3.420346959995622e-06,5.0,1461840.0,1.6557936218829686e-05,1.0,remaining,4.841009573438511,1.6557936218829686e-05,popmax,1.0,True,False,True,False,False,0.5,0.811340206185567,4.927640210697314,4.55340497393906,3.424679707448827,0.0,6.490721649484536,5.0,3.0,27.396446541569738,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.50; detectability=0.81,1675066,1675066,Left ventricular noncompaction cardiomyopathy|Brugada syndrome 8|Cardiovascular phenotype,Left ventricular noncompaction cardiomyopathy|Brugada syndrome 8|Cardiovascular phenotype,Left ventricular noncompaction cardiomyopathy|Brugada syndrome 8|Cardiovascular phenotype,variation_id
+1:237330939:C:T,RYR2,VCV000404190,404190,NM_001035.3(RYR2):c.230C>T (p.Ala77Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0524243921061023e-06,3.0,1461686.0,1.15931275939623e-05,1.0,sas,5.648501835219441,1.15931275939623e-05,popmax,1.0,True,False,True,False,False,0.8035714285714286,0.811340206185567,1.4445146969411835,4.55340497393906,3.759666370977259,0.0,6.490721649484536,8.035714285714286,3.0,27.284021977056327,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.80; detectability=0.81,404190,404190,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:115738223:C:T,CASQ2,VCV001746831,1746831,NM_001232.4(CASQ2):c.532+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.006952298070145e-07,1.0,1427154.0,1.168688497767805e-05,1.0,sas,16.678962267139422,1.168688497767805e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,1.5232231551520896,4.55340497393906,6.110845130886591,0.0,6.490721649484536,5.125,3.0,26.80319490946228,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,1746831,1746831,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id
+1:115744914:T:C,CASQ2,VCV000408869,408869,NM_001232.4(CASQ2):c.235-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.372949328559131e-06,2.0,1456718.0,1.162385214460072e-05,1.0,sas,8.466331886019208,1.162385214460072e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,1.4703775753869388,4.55340497393906,4.63847644556688,0.0,6.490721649484536,5.125,3.0,25.27798064437741,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,408869,408869,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id
+21:34449622:T:TA,KCNE1,VCV000430060,430060,NM_000219.6(KCNE1):c.12dup (p.Asn5Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,2.628017292353784e-06,2.0,761030.0,3.923091710114907e-06,2.0,nfe,1.4927950545584636,3.923091710114907e-06,popmax,0.0,False,False,False,False,False,0.4166666666666667,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.42; detectability=0.38,430060,430060,Long QT syndrome|Cardiovascular phenotype|Long QT syndrome 5;Jervell and Lange-Nielsen syndrome 2|Jervell and Lange-Nielsen syndrome 2,Long QT syndrome|Cardiovascular phenotype|Long QT syndrome 5;Jervell and Lange-Nielsen syndrome 2|Jervell and Lange-Nielsen syndrome 2,Long QT syndrome|Cardiovascular phenotype|Long QT syndrome 5;Jervell and Lange-Nielsen syndrome 2|Jervell and Lange-Nielsen syndrome 2,variation_id
+4:113358978:A:AG,ANK2,VCV001208780,1208780,NM_001148.6(ANK2):c.10367dup (p.Thr3457fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,3.420660515862971e-06,,,,,,2.923411145366478e-07,3.420660515862971e-06,global,0.0,False,False,False,False,True,0.6136363636363636,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.61; detectability=0.38,1208780,1208780,,,,unmatched
+7:150947376:C:CG,KCNH2,VCV000857501,857501,NM_000238.4(KCNH2):c.3103dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.4431722079668878e-06,2.0,1385836.0,1.8602055527135749e-06,2.0,nfe,1.2889697109428708,1.8602055527135749e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.83; detectability=0.38,857501,857501,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2588804:C:CA,KCNQ1,VCV001068919,1068919,NM_000218.3(KCNQ1):c.1344dup (p.Glu449fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.3687567582364937e-06,2.0,1461180.0,1.7986646713479913e-06,2.0,nfe,1.3140861927718974,1.7986646713479913e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.64; detectability=0.38,1068919,1068919,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150948455:C:CGCCT,KCNH2,VCV000519280,519280,NM_000238.4(KCNH2):c.2677_2680dup (p.Arg894fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,8.697558073595258e-07,1.0,1149748.0,1.1272305073664514e-06,1.0,nfe,1.2960306810228792,1.1272305073664514e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.83; detectability=0.38,519280,519280,Cardiovascular phenotype|Long QT syndrome 2|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome 2|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome 2|Long QT syndrome,variation_id
+7:82443436:G:GGCCAGCAGGCA,CACNA2D1,VCV001802180,1802180,NM_000722.4(CACNA2D1):c.13_23dup (p.Leu9fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,duplication,LOF,6.870028675499691e-07,1.0,1455598.0,9.019003039404024e-07,1.0,nfe,1.3128038232984225,9.019003039404024e-07,popmax,0.0,False,False,False,False,True,0.75,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.75; detectability=0.38,1802180,1802180,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,variation_id
+3:38581146:T:TGCAGCTGG,SCN5A,VCV002104041,2104041,NM_000335.5(SCN5A):c.3005_3012dup (p.Ile1005fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.846370191451896e-07,1.0,1460628.0,8.996883479562679e-07,1.0,nfe,1.314109533501488,8.996883479562679e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.66; detectability=0.38,2104041,2104041,,,,unmatched
+11:2445314:G:GC,KCNQ1,VCV001787905,1787905,NM_000218.3(KCNQ1):c.221dup (p.Val75fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1325352.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.64; detectability=0.38,1787905,1787905,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+11:2847842:A:AC,KCNQ1,VCV001306529,1306529,NM_000218.3(KCNQ1):c.1875dup (p.Gly626fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1417300.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.64; detectability=0.38,1306529,1306529,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150958081:C:CG,KCNH2,VCV003645049,3645049,NM_000238.4(KCNH2):c.893dup (p.Pro299fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1121302.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.83; detectability=0.38,3645049,3645049,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947472:T:TC,KCNH2,VCV000864600,864600,NM_000238.4(KCNH2):c.3007dup (p.Asp1003fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1424464.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.83; detectability=0.38,864600,864600,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+6:123512339:T:TC,TRDN,VCV000532312,532312,NM_006073.4(TRDN):c.573dup (p.Lys192fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1354634.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,532312,532312,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+7:150947795:GC:G,KCNH2,VCV001074305,1074305,NM_000238.4(KCNH2):c.2775del (p.Pro926fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,7.97089897247866e-06,,,,,,1.2545634789706644e-07,7.97089897247866e-06,global,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,1074305,1074305,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,variation_id
+6:123503830:CCT:C,TRDN,VCV003592999,3592999,NM_006073.4(TRDN):c.680_681del (p.Gln227fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,4.12401745284186e-06,6.0,1454892.0,5.414810589925564e-06,6.0,nfe,1.3129940255709134,5.414810589925564e-06,popmax,0.0,False,False,False,False,True,0.390625,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,3592999,3592999,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id
+3:38613790:C:CTGAAT,SCN5A,VCV002861576,2861576,NM_000335.5(SCN5A):c.655_656insATTCA (p.Arg219fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,4.113674539782661e-06,6.0,1458550.0,5.403010557482629e-06,6.0,nfe,1.3134267652446132,5.403010557482629e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.5866666666666666,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=insertion; gene_constraint=0.66; detectability=0.59,2861576,2861576,,,,unmatched
+7:150947387:AC:A,KCNH2,VCV000917819,917819,NM_000238.4(KCNH2):c.3092del (p.Gly1031fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.604154292403596e-06,5.0,1387288.0,4.655415458586356e-06,5.0,nfe,1.2916803192133486,4.655415458586356e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,917819,917819,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,variation_id
+11:2570664:GTGGTCCGCCTC:G,KCNQ1,VCV000519537,519537,NM_000218.3(KCNQ1):c.524_534del (p.Leu175fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.0543273721318167e-06,3.0,1460332.0,2.6979242171073577e-06,3.0,nfe,1.3132882034373443,2.6979242171073577e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,519537,519537,Cardiovascular phenotype|Long QT syndrome||Long QT syndrome 1,Cardiovascular phenotype|Long QT syndrome||Long QT syndrome 1,Cardiovascular phenotype|Long QT syndrome||Long QT syndrome 1,variation_id
+7:150947472:TC:T,KCNH2,VCV000837649,837649,NM_000238.4(KCNH2):c.3007del (p.Asp1003fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.404040829507322e-06,2.0,1424460.0,1.8277793212358715e-06,2.0,nfe,1.3017990510134867,1.8277793212358715e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,837649,837649,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950047:GCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGC:G,KCNH2,VCV004537402,4537402,NM_000238.4(KCNH2):c.2398+86_2398+120del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,1.3735848641936646e-06,2.0,1456044.0,1.802292155162936e-06,2.0,nfe,1.3121081121644589,1.802292155162936e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,4537402,4537402,,,,unmatched
+3:38587442:CA:C,SCN5A,VCV003385945,3385945,NM_000335.5(SCN5A):c.2393del (p.Leu798fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3683877792024215e-06,2.0,1461574.0,1.7988749835852655e-06,2.0,nfe,1.3145942227279572,1.7988749835852655e-06,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.66; detectability=0.60,3385945,3385945,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+1:115702951:CCTGAATAGGT:C,CASQ2,VCV002988469,2988469,NM_001232.4(CASQ2):c.974_983del (p.Asp325fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3685694343702527e-06,2.0,1461380.0,1.7988458604959058e-06,2.0,nfe,1.3143984520779486,1.7988458604959058e-06,popmax,0.0,False,False,False,False,False,0.5125,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.51; detectability=0.60,2988469,2988469,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+11:2572033:TC:T,KCNQ1,VCV000656121,656121,NM_000218.3(KCNQ1):c.706del (p.Ile235_Leu236insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3692440403653143e-06,2.0,1460660.0,1.798784381514972e-06,2.0,nfe,1.3137059682429495,1.798784381514972e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,656121,656121,Long QT syndrome||Cardiovascular phenotype|Cardiac arrhythmia,Long QT syndrome||Cardiovascular phenotype|Cardiac arrhythmia,Long QT syndrome||Cardiovascular phenotype|Cardiac arrhythmia,variation_id
+11:2445114:TC:T,KCNQ1,VCV000523933,523933,NM_000218.3(KCNQ1):c.20del (p.Pro7fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.0542451288603822e-06,1.0,948546.0,1.1995470510335298e-06,1.0,nfe,1.1378254263358936,1.1995470510335298e-06,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,523933,523933,,,,unmatched
+7:150948442:AC:A,KCNH2,VCV003076027,3076027,NM_000238.4(KCNH2):c.2692+1del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,8.761063032344092e-07,1.0,1141414.0,1.1032048099729716e-06,1.0,nfe,1.2592131191010063,1.1032048099729716e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3076027,3076027,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id
+11:2445294:TCCCCGGCCGCG:T,KCNQ1,VCV000449221,449221,NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,8.033277046838826e-07,1.0,1244822.0,9.895679744137304e-07,1.0,nfe,1.2318356964514732,9.895679744137304e-07,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,449221,449221,"Long QT syndrome|Cardiovascular phenotype|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1|Long QT syndrome 1|KCNQ1-related disorder","Long QT syndrome|Cardiovascular phenotype|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1|Long QT syndrome 1|KCNQ1-related disorder","Long QT syndrome|Cardiovascular phenotype|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1|Long QT syndrome 1|KCNQ1-related disorder",variation_id
+3:38581308:CAG:C,SCN5A,VCV001332487,1332487,NM_000335.5(SCN5A):c.2849_2850del (p.Pro950fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.857957974433533e-07,1.0,1458160.0,9.016856110813556e-07,1.0,nfe,1.314801431623534,9.016856110813556e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,1332487,1332487,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+7:150947652:CA:C,KCNH2,VCV000858435,858435,NM_000238.4(KCNH2):c.2918del (p.Leu973fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.85348348858758e-07,1.0,1459112.0,9.000819074535783e-07,1.0,nfe,1.3133198549796452,9.000819074535783e-07,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,858435,858435,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,variation_id
+12:2584592:GAGA:G,CACNA1C,VCV000411734,411734,NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,missense,6.845132973553145e-07,1.0,1460892.0,8.998033029979646e-07,1.0,nfe,1.3145149874508737,8.998033029979646e-07,popmax,0.0,False,False,False,False,False,0.7307692307692307,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.73; detectability=0.60,411734,411734,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id
+3:38557229:AC:A,SCN5A,VCV001327132,1327132,NM_000335.5(SCN5A):c.4296+1del,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,6.843736954126432e-07,1.0,1461190.0,8.99647877820621e-07,1.0,nfe,1.314556022966598,8.99647877820621e-07,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.66; detectability=0.60,1327132,1327132,SUDDEN INFANT DEATH SYNDROME|Cardiovascular phenotype|Brugada syndrome 1,SUDDEN INFANT DEATH SYNDROME|Cardiovascular phenotype|Brugada syndrome 1,SUDDEN INFANT DEATH SYNDROME|Cardiovascular phenotype|Brugada syndrome 1,variation_id
+3:38604874:CG:C,SCN5A,VCV003629463,3629463,NM_000335.5(SCN5A):c.1372del (p.Arg458fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.843924306197174e-07,1.0,1461150.0,8.99566948471006e-07,1.0,nfe,1.3144017873702387,8.99566948471006e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,3629463,3629463,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+6:123570976:CACGTGATTATCAGGGCA:C,TRDN,VCV001677487,1677487,NM_006073.4(TRDN):c.162_178del (p.Ile54fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.84147080675992e-07,1.0,1461674.0,8.994148407046376e-07,1.0,nfe,1.314650827955176,8.994148407046376e-07,popmax,0.0,False,False,False,False,True,0.390625,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,1677487,1677487,,,,unmatched
+11:2768851:GAACACCATCGGGCCACCATT:G,KCNQ1,VCV002009452,2009452,NM_000218.3(KCNQ1):c.1525_1544del (p.His509fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.841161902937595e-07,1.0,1461740.0,8.99363071073066e-07,1.0,nfe,1.3146345155964867,8.99363071073066e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,2009452,2009452,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+4:113359097:ACAGT:A,ANK2,VCV000570614,570614,NM_001148.6(ANK2):c.10483_10486del (p.Ser3495fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.841218065194071e-07,1.0,1461728.0,8.993468942853699e-07,1.0,nfe,1.3146000772302235,8.993468942853699e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.61; detectability=0.60,570614,570614,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+4:113358978:AG:A,ANK2,VCV001342783,1342783,NM_001148.6(ANK2):c.10367del (p.Gly3456fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.84114318239035e-07,1.0,1461744.0,8.993291004910337e-07,1.0,nfe,1.3145884568203765,8.993291004910337e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.61; detectability=0.60,1342783,1342783,,,,unmatched
+7:150951697:AG:A,KCNH2,VCV000405341,405341,NM_000238.4(KCNH2):c.1695del (p.Cys566fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840890465030052e-07,1.0,1461798.0,8.992999848917603e-07,1.0,nfe,1.3145944594412535,8.992999848917603e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,405341,405341,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150949032:CA:C,KCNH2,VCV000418689,418689,NM_000238.4(KCNH2):c.2415del (p.Phe805fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840675202005138e-07,1.0,1461844.0,8.992918975598614e-07,1.0,nfe,1.3146240047652844,8.992918975598614e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,418689,418689,,,,unmatched
+7:150951021:TC:T,KCNH2,VCV000810745,810745,NM_000238.4(KCNH2):c.2044del (p.Glu682fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840656484121468e-07,1.0,1461848.0,8.992789581313703e-07,1.0,nfe,1.3146086864763482,8.992789581313703e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,810745,810745,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150948956:TGTAGGTCACA:T,KCNH2,VCV000503760,503760,NM_000238.4(KCNH2):c.2482_2491del (p.Cys828fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840478669335365e-07,1.0,1461886.0,8.992757233324281e-07,1.0,nfe,1.3146381301144725,8.992757233324281e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,503760,503760,,,,unmatched
+3:38551026:GCT:G,SCN5A,VCV002428920,2428920,NM_000335.5(SCN5A):c.5341_5342del (p.Ser1781fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840441235821475e-07,1.0,1461894.0,8.992708711776492e-07,1.0,nfe,1.3146382309816362,8.992708711776492e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,2428920,2428920,,,,unmatched
+11:2445203:CT:C,KCNQ1,VCV003862980,3862980,NM_000218.3(KCNQ1):c.107del (p.Phe36fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,998778.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,3862980,3862980,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+11:2445284:GC:G,KCNQ1,VCV003076068,3076068,NM_000218.3(KCNQ1):c.191del (p.Pro64fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1165068.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,3076068,3076068,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id
+11:2572978:TG:T,KCNQ1,VCV001457672,1457672,NM_000218.3(KCNQ1):c.919del (p.Val307fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1460810.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,1457672,1457672,Long QT syndrome|Cardiovascular phenotype|Congenital long QT syndrome,Long QT syndrome|Cardiovascular phenotype|Congenital long QT syndrome,Long QT syndrome|Cardiovascular phenotype|Congenital long QT syndrome,variation_id
+11:2445270:GC:G,KCNQ1,VCV000635221,635221,NM_000218.3(KCNQ1):c.176del (p.Pro59fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1083286.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,635221,635221,,,,unmatched
+11:2445294:TC:T,KCNQ1,VCV000405258,405258,NM_000218.3(KCNQ1):c.200del (p.Pro67fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1244822.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,405258,405258,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150958217:GC:G,KCNH2,VCV004727450,4727450,NM_000238.4(KCNH2):c.757del (p.Ala253fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1219196.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,4727450,4727450,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150977840:TG:T,KCNH2,VCV004528252,4528252,NM_000238.4(KCNH2):c.73del (p.Gln25fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,982894.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,4528252,4528252,,,,unmatched
+7:150958426:GC:G,KCNH2,VCV003720792,3720792,NM_000238.4(KCNH2):c.548del (p.Gly183fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1297264.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3720792,3720792,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150958200:CG:C,KCNH2,VCV003644294,3644294,NM_000238.4(KCNH2):c.774del (p.Asp259fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1212186.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3644294,3644294,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150948519:CG:C,KCNH2,VCV003376533,3376533,NM_000238.4(KCNH2):c.2616del (p.Gly873fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1461446.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3376533,3376533,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150947431:C:CGGGGGGGGGGGGG,KCNH2,VCV003076044,3076044,NM_000238.4(KCNH2):c.3048_3049insCCCCCCCCCCCCC (p.Ala1017fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,0.0,0.0,1294084.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.5866666666666666,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=insertion; gene_constraint=0.83; detectability=0.59,3076044,3076044,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id
+7:150947425:T:TGGGGGGG,KCNH2,VCV003076029,3076029,NM_000238.4(KCNH2):c.3054_3055insCCCCCCC (p.Thr1019fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,0.0,0.0,1287706.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.5866666666666666,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=insertion; gene_constraint=0.83; detectability=0.59,3076029,3076029,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id
+7:150958228:TG:T,KCNH2,VCV002584422,2584422,NM_000238.4(KCNH2):c.746del (p.Pro249fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1225122.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,2584422,2584422,KCNH2-related disorder,KCNH2-related disorder,KCNH2-related disorder,variation_id
+7:150974709:AC:A,KCNH2,VCV001382290,1382290,NM_000238.4(KCNH2):c.307+1del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,0.0,0.0,1438648.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,1382290,1382290,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150958305:CT:C,KCNH2,VCV001070517,1070517,NM_000238.4(KCNH2):c.669del (p.Leu225fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1328332.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,1070517,1070517,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947808:GC:G,KCNH2,VCV000653333,653333,NM_000238.4(KCNH2):c.2762del (p.Gly921fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1378096.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,653333,653333,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,variation_id
+7:150977867:TC:T,KCNH2,VCV000638156,638156,NM_000238.4(KCNH2):c.46del (p.Asp16fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1392070.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,638156,638156,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id
+7:150947425:TG:T,KCNH2,VCV000523705,523705,NM_000238.4(KCNH2):c.3054del (p.Thr1019fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1287714.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,523705,523705,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150947678:CG:C,KCNH2,VCV000418247,418247,NM_000238.4(KCNH2):c.2892del (p.Gly965fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1451776.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,418247,418247,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+3:38603785:GC:G,SCN5A,VCV001254662,1254662,NM_000335.5(SCN5A):c.1816del (p.Ala606fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1413208.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.66; detectability=0.60,1254662,1254662,,,,unmatched
+12:2585484:AC:A,CACNA1C,VCV001334090,1334090,NM_000719.7(CACNA1C):c.2451del (p.Ala818fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1402792.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.73; detectability=0.60,1334090,1334090,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id
+1:115705187:C:G,CASQ2,VCV001455253,1455253,NM_001232.4(CASQ2):c.939+5G>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,3.47015940524244e-06,5.0,1440856.0,4.575293779613589e-06,5.0,nfe,1.3184678070505331,4.575293779613589e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,1455253,1455253,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id
+1:115726991:C:T,CASQ2,VCV002202832,2202832,NM_001232.4(CASQ2):c.737+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.4284758230741907e-06,5.0,1458374.0,4.505194489246101e-06,5.0,nfe,1.3140516100110182,4.505194489246101e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,2202832,2202832,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id
+1:115744903:G:A,CASQ2,VCV002914975,2914975,NM_001232.4(CASQ2):c.244C>T (p.Gln82Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.423808617315433e-06,5.0,1460362.0,4.501244143881369e-06,5.0,nfe,1.3146890881773796,4.501244143881369e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2914975,2914975,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:115702947:G:A,CASQ2,VCV001425730,1425730,NM_001232.4(CASQ2):c.988C>T (p.Gln330Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.4213767620090325e-06,5.0,1461400.0,4.497138920218957e-06,5.0,nfe,1.314423671701846,4.497138920218957e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,1425730,1425730,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:115725508:C:T,CASQ2,VCV000427947,427947,NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.738473082178839e-06,4.0,1460668.0,3.598442594045297e-06,4.0,nfe,1.3140323720654798,3.598442594045297e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,427947,427947,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:115738281:C:A,CASQ2,VCV000654552,654552,NM_001232.4(CASQ2):c.475G>T (p.Glu159Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.7365508786380734e-06,4.0,1461694.0,3.597652891253746e-06,4.0,nfe,1.314666796320421,3.597652891253746e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,654552,654552,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237388137:G:T,RYR2,VCV002626900,2626900,NM_001035.3(RYR2):c.727G>T (p.Glu243Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052595712538076e-06,3.0,1461564.0,2.698200839680101e-06,3.0,nfe,1.3145309174463802,2.698200839680101e-06,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,2626900,2626900,RYR2-related disorder,RYR2-related disorder,RYR2-related disorder,variation_id
+7:150959571:C:T,KCNH2,VCV000419715,419715,NM_000238.4(KCNH2):c.472+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.0523569951851703e-06,3.0,1461734.0,2.698021271199702e-06,3.0,nfe,1.3145963216598953,2.698021271199702e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,419715,419715,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+17:70175754:G:T,KCNJ2,VCV000463523,463523,NM_000891.3(KCNJ2):c.715G>T (p.Glu239Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052146408333356e-06,3.0,1461884.0,2.6978320221869704e-06,3.0,nfe,1.3146390026523511,2.6978320221869704e-06,popmax,0.0,False,False,False,False,True,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,463523,463523,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id
+15:73343471:G:A,HCN4,VCV000571947,571947,NM_005477.3(HCN4):c.1123C>T (p.Arg375Cys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0521492158737845e-06,3.0,1461882.0,2.6978320221869704e-06,3.0,nfe,1.314637204098756,2.6978320221869704e-06,popmax,0.0,False,False,False,False,False,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.50; detectability=0.81,571947,571947,Brugada syndrome 8||Cardiovascular phenotype,Brugada syndrome 8||Cardiovascular phenotype,Brugada syndrome 8||Cardiovascular phenotype,variation_id
+3:38585690:C:A,SCN5A,VCV000406420,406420,NM_000335.5(SCN5A):c.2787+1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.5024444771643463e-06,1.0,665582.0,2.0315788618282585e-06,1.0,nfe,1.3521820876073176,2.0315788618282585e-06,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,406420,406420,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+1:115726990:A:T,CASQ2,VCV001033372,1033372,NM_001232.4(CASQ2):c.737+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.5389374252653512e-06,2.0,1299598.0,1.9958008350430693e-06,2.0,nfe,1.296869193904846,1.9958008350430693e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,1033372,1033372,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id
+7:150958430:G:T,KCNH2,VCV000372376,372376,NM_000238.4(KCNH2):c.545C>A (p.Ser182Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.5324754535744223e-06,2.0,1305078.0,1.915719822144572e-06,2.0,nfe,1.2500817338343122,1.915719822144572e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,372376,372376,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id
+1:115740727:C:T,CASQ2,VCV002997913,2997913,NM_001232.4(CASQ2):c.420+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3897903223340694e-06,2.0,1439066.0,1.832653113586008e-06,2.0,nfe,1.318654163495695,1.832653113586008e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,2997913,2997913,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id
+12:2566466:G:A,CACNA1C,VCV000372313,372313,NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.385381180704965e-06,2.0,1443646.0,1.8129572051451725e-06,2.0,nfe,1.3086339859103944,1.8129572051451725e-06,popmax,0.0,False,False,False,False,False,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.73; detectability=0.81,372313,372313,Hypertrophic cardiomyopathy 1|Long QT syndrome|Long QT syndrome 8|Cardiac arrhythmia|Timothy syndrome|Cardiovascular phenotype,Hypertrophic cardiomyopathy 1|Long QT syndrome|Long QT syndrome 8|Cardiac arrhythmia|Timothy syndrome|Cardiovascular phenotype,Hypertrophic cardiomyopathy 1|Long QT syndrome|Long QT syndrome 8|Cardiac arrhythmia|Timothy syndrome|Cardiovascular phenotype,variation_id
+3:38575391:C:T,SCN5A,VCV004757644,4757644,NM_000335.5(SCN5A):c.3569G>A (p.Trp1190Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3728588550082577e-06,2.0,1456814.0,1.802120013984452e-06,2.0,nfe,1.3126766052705447,1.802120013984452e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4757644,4757644,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+3:38557230:C:T,SCN5A,VCV001739478,1739478,NM_000335.5(SCN5A):c.4296+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3704318367760864e-06,2.0,1459394.0,1.8015648392193456e-06,2.0,nfe,1.3145962289239144,1.8015648392193456e-06,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,1739478,1739478,Cardiovascular phenotype|Brugada syndrome|Brugada syndrome 1,Cardiovascular phenotype|Brugada syndrome|Brugada syndrome 1,Cardiovascular phenotype|Brugada syndrome|Brugada syndrome 1,variation_id
+3:38579405:C:A,SCN5A,VCV003376789,3376789,NM_000335.5(SCN5A):c.3316G>T (p.Glu1106Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.370383008347003e-06,2.0,1459446.0,1.8000990054452994e-06,2.0,nfe,1.313573417728825,1.8000990054452994e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3376789,3376789,Sick sinus syndrome 1,Sick sinus syndrome 1,Sick sinus syndrome 1,variation_id
+3:38554314:A:G,SCN5A,VCV002505148,2505148,NM_000335.5(SCN5A):c.4775T>C (p.Ile1592Thr),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,1.3689291414897782e-06,2.0,1460996.0,1.7997555931904448e-06,2.0,nfe,1.3147176314138331,1.7997555931904448e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2505148,2505148,Primary dilated cardiomyopathy,Primary dilated cardiomyopathy,Primary dilated cardiomyopathy,variation_id
+11:2445453:G:A,KCNQ1,VCV002801649,2801649,NM_000218.3(KCNQ1):c.355G>A (p.Gly119Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.3843723740186531e-06,2.0,1444698.0,1.7994155498294154e-06,2.0,nfe,1.299805806439304,1.7994155498294154e-06,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,2801649,2801649,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+1:115768427:C:A,CASQ2,VCV000488772,488772,NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.368531975749613e-06,2.0,1461420.0,1.7992245342257486e-06,2.0,nfe,1.3147111294415277,1.7992245342257486e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,488772,488772,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id
+3:38606149:C:T,SCN5A,VCV000463294,463294,NM_000335.5(SCN5A):c.1141-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3687398969886353e-06,2.0,1461198.0,1.7989623585116103e-06,2.0,nfe,1.314319870524441,1.7989623585116103e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,463294,463294,,,,unmatched
+3:38585786:C:A,SCN5A,VCV002844180,2844180,NM_000335.5(SCN5A):c.2692G>T (p.Glu898Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.368183708762943e-06,2.0,1461792.0,1.7986646713479913e-06,2.0,nfe,1.314636583662941,1.7986646713479913e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2844180,2844180,,,,unmatched
+11:2776984:A:C,KCNQ1,VCV003384908,3384908,NM_000218.3(KCNQ1):c.1686-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3682061722516842e-06,2.0,1461768.0,1.7986582009820674e-06,2.0,nfe,1.3146102706229643,1.7986582009820674e-06,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,3384908,3384908,Jervell and Lange-Nielsen syndrome,Jervell and Lange-Nielsen syndrome,Jervell and Lange-Nielsen syndrome,variation_id
+4:113355864:C:T,ANK2,VCV002499833,2499833,NM_001148.6(ANK2):c.7246C>T (p.Arg2416Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681743491936664e-06,2.0,1461802.0,1.7986290849114804e-06,2.0,nfe,1.31461956683513,1.7986290849114804e-06,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2499833,2499833,,,,unmatched
+4:113311389:C:T,ANK2,VCV003337797,3337797,NM_001148.6(ANK2):c.2683C>T (p.Arg895Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681537585920056e-06,2.0,1461824.0,1.7985837951197228e-06,2.0,nfe,1.3146062489090642,1.7985837951197228e-06,popmax,0.0,False,False,False,False,False,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.61; detectability=0.81,3337797,3337797,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150952811:G:A,KCNH2,VCV003340202,3340202,NM_000238.4(KCNH2):c.1171C>T (p.Gln391Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681780930060105e-06,2.0,1461798.0,1.7985611510791366e-06,2.0,nfe,1.3145663168463837,1.7985611510791366e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,3340202,3340202,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+11:2662047:G:T,KCNQ1,VCV002773480,2773480,NM_000218.3(KCNQ1):c.1480G>T (p.Glu494Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3680994772491897e-06,2.0,1461882.0,1.7985417423552984e-06,2.0,nfe,1.3146276697246606,1.7985417423552984e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.64; detectability=0.81,2773480,2773480,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id
+4:113373351:C:T,ANK2,VCV000985692,985692,NM_001148.6(ANK2):c.11761C>T (p.Gln3921Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681575022916638e-06,,,,,,7.309094657709624e-07,1.3681575022916638e-06,global,0.0,False,False,False,False,False,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.61; detectability=0.81,985692,985692,"Cardiac arrhythmia, ankyrin-B-related||Cardiovascular phenotype","Cardiac arrhythmia, ankyrin-B-related||Cardiovascular phenotype","Cardiac arrhythmia, ankyrin-B-related||Cardiovascular phenotype",variation_id
+1:237491910:G:A,RYR2,VCV004800056,4800056,NM_001035.3(RYR2):c.1813G>A (p.Gly605Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,8.828400611631594e-07,1.0,1132708.0,1.188591424075157e-06,1.0,nfe,1.346326622494387,1.188591424075157e-06,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,4800056,4800056,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123265339:C:A,TRDN,VCV003780743,3780743,NM_006073.4(TRDN):c.1784-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.908301660585183e-07,1.0,1264494.0,1.009801129765504e-06,1.0,nfe,1.2768871196595997,1.009801129765504e-06,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,3780743,3780743,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123547339:C:A,TRDN,VCV002434223,2434223,NM_006073.4(TRDN):c.424+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.672194738715736e-07,1.0,1303408.0,9.723786131158318e-07,1.0,nfe,1.2674057148253322,9.723786131158318e-07,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,2434223,2434223,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id
+7:150948443:C:T,KCNH2,VCV003253477,3253477,NM_000238.4(KCNH2):c.2692+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.140001142400183e-07,1.0,1400560.0,9.379947922529134e-07,1.0,nfe,1.3137175468574929,9.379947922529134e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3253477,3253477,,,,unmatched
+7:150947870:G:A,KCNH2,VCV000927383,927383,NM_000238.4(KCNH2):c.2701C>T (p.Gln901Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.256662341695911e-07,1.0,1378044.0,9.289001265161972e-07,1.0,nfe,1.2800648600031863,9.289001265161972e-07,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,927383,927383,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id
+1:115740830:T:C,CASQ2,VCV003236407,3236407,NM_001232.4(CASQ2):c.320-2A>G,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.904131984910329e-07,1.0,1448408.0,9.091454578183782e-07,1.0,nfe,1.3168130953931796,9.091454578183782e-07,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,3236407,3236407,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 2,variation_id
+3:38622399:C:G,SCN5A,VCV001743359,1743359,NM_000335.5(SCN5A):c.482+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.915447588514272e-07,1.0,1446038.0,9.088017448993502e-07,1.0,nfe,1.3141614033014393,9.088017448993502e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,1743359,1743359,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150947500:C:T,KCNH2,VCV003544410,3544410,NM_000238.4(KCNH2):c.2980G>A (p.Val994Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.956705638131652e-07,1.0,1437462.0,9.081860255599876e-07,1.0,nfe,1.3054824615540808,9.081860255599876e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3544410,3544410,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+3:38609733:C:T,SCN5A,VCV001072847,1072847,NM_000335.5(SCN5A):c.934+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.89303389994072e-07,1.0,1450740.0,9.06547630919076e-07,1.0,nfe,1.315164452857862,9.06547630919076e-07,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,1072847,1072847,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,variation_id
+3:38556452:G:A,SCN5A,VCV002506125,2506125,NM_000335.5(SCN5A):c.4423C>T (p.Gln1475Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.918940461133544e-07,1.0,1445308.0,9.058397678151508e-07,1.0,nfe,1.3092170162275525,9.058397678151508e-07,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,2506125,2506125,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),variation_id
+1:115768539:C:T,CASQ2,VCV002811031,2811031,NM_001232.4(CASQ2):c.3G>A (p.Met1Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.879301283127276e-07,1.0,1453636.0,9.052477210388624e-07,1.0,nfe,1.3159002170161198,9.052477210388624e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2811031,2811031,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+12:2448979:C:T,CACNA1C,VCV001208559,1208559,NM_000719.7(CACNA1C):c.481C>T (p.Arg161Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.877020984541832e-07,1.0,1454118.0,9.03404389099884e-07,1.0,nfe,1.3136561273761245,9.03404389099884e-07,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,1208559,1208559,,,,unmatched
+3:38620870:C:T,SCN5A,VCV004614939,4614939,NM_000335.5(SCN5A):c.584G>A (p.Trp195Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.886388364758219e-07,1.0,1452140.0,9.031253556056088e-07,1.0,nfe,1.3114640015997934,9.031253556056088e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4614939,4614939,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38556580:T:G,SCN5A,VCV004723996,4723996,NM_000335.5(SCN5A):c.4297-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.868782892884078e-07,1.0,1455862.0,9.02880731261162e-07,1.0,nfe,1.3144692893514494,9.02880731261162e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4723996,4723996,,,,unmatched
+1:115732900:C:A,CASQ2,VCV003485292,3485292,NM_001232.4(CASQ2):c.606+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.861675483919663e-07,1.0,1457370.0,9.025515131276118e-07,1.0,nfe,1.3153510391036438,9.025515131276118e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,3485292,3485292,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+1:115705285:G:T,CASQ2,VCV002794330,2794330,NM_001232.4(CASQ2):c.846C>A (p.Tyr282Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.86050803434096e-07,1.0,1457618.0,9.023935085420568e-07,1.0,nfe,1.3153445614821466,9.023935085420568e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2794330,2794330,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+3:38556579:C:T,SCN5A,VCV002203336,2203336,NM_000335.5(SCN5A):c.4297-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.857092702407663e-07,1.0,1458344.0,9.01297146853752e-07,1.0,nfe,1.3144008278267272,9.01297146853752e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2203336,2203336,,,,unmatched
+1:115732970:G:T,CASQ2,VCV002865838,2865838,NM_001232.4(CASQ2):c.537C>A (p.Tyr179Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.853596219008038e-07,1.0,1459088.0,9.012305401795612e-07,1.0,nfe,1.31497420683443,9.012305401795612e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2865838,2865838,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123636754:C:G,TRDN,VCV003225249,3225249,NM_006073.4(TRDN):c.22G>C (p.Gly8Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.851398644519292e-07,1.0,1459556.0,9.005195998090898e-07,1.0,nfe,1.3143583261953748,9.005195998090898e-07,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,3225249,3225249,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38609765:C:T,SCN5A,VCV003338801,3338801,NM_000335.5(SCN5A):c.903G>A (p.Trp301Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.850206533726992e-07,1.0,1459810.0,9.004985159784457e-07,1.0,nfe,1.3145562794180925,9.004985159784457e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3338801,3338801,,,,unmatched
+3:38562434:G:C,SCN5A,VCV003367171,3367171,NM_000335.5(SCN5A):c.3941C>G (p.Ser1314Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,LOF,6.854404228893233e-07,1.0,1458916.0,9.002407243696964e-07,1.0,nfe,1.313375139446535,9.002407243696964e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3367171,3367171,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38622461:T:C,SCN5A,VCV002734486,2734486,NM_000335.5(SCN5A):c.421A>G (p.Ile141Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.851135781289822e-07,1.0,1459612.0,9.00009000090001e-07,1.0,nfe,1.3136634788123889,9.00009000090001e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2734486,2734486,,,,unmatched
+7:150974870:C:A,KCNH2,VCV003720794,3720794,NM_000238.4(KCNH2):c.148G>T (p.Glu50Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.851408032864834e-07,1.0,1459554.0,8.998972317361358e-07,1.0,nfe,1.3134481466749075,8.998972317361358e-07,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,3720794,3720794,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id
+11:2572011:A:C,KCNQ1,VCV000573008,573008,NM_000218.3(KCNQ1):c.684-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.850675819169561e-07,1.0,1459710.0,8.997595842390913e-07,1.0,nfe,1.3133876052546227,8.997595842390913e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,573008,573008,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+4:113345930:C:T,ANK2,VCV003338732,3338732,NM_001148.6(ANK2):c.4279C>T (p.Arg1427Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.843043840644669e-07,1.0,1461338.0,8.996155043334479e-07,1.0,nfe,1.3146418620735227,8.996155043334479e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3338732,3338732,,,,unmatched
+11:2572021:G:T,KCNQ1,VCV000519257,519257,NM_000218.3(KCNQ1):c.692G>T (p.Arg231Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.8483018950621e-07,1.0,1460216.0,8.9957989618848e-07,1.0,nfe,1.3135804997974945,8.9957989618848e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,519257,519257,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38606682:C:A,SCN5A,VCV003338339,3338339,NM_000335.5(SCN5A):c.1127G>T (p.Arg376Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.845236057965459e-07,1.0,1460870.0,8.995620931730434e-07,1.0,nfe,1.314142816131888,8.995620931730434e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3338339,3338339,Atrial fibrillation,Atrial fibrillation,Atrial fibrillation,variation_id
+1:237445485:A:T,RYR2,VCV003720290,3720290,NM_001035.3(RYR2):c.1255A>T (p.Ile419Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842641150001642e-07,1.0,1461424.0,8.995378174693842e-07,1.0,nfe,1.3146056955850631,8.995378174693842e-07,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,3720290,3720290,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237441382:G:A,RYR2,VCV000519533,519533,NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842332140486764e-07,1.0,1461490.0,8.995167795860064e-07,1.0,nfe,1.3146343183622424,8.995167795860064e-07,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,519533,519533,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy,variation_id
+1:115768343:G:A,CASQ2,VCV001784131,1784131,NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842023158879988e-07,1.0,1461556.0,8.995151613280442e-07,1.0,nfe,1.3146913211909823,8.995151613280442e-07,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,1784131,1784131,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+3:38557231:C:A,SCN5A,VCV001527872,1527872,NM_000335.5(SCN5A):c.4296G>T (p.Gly1432=),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,other_or_unresolved,6.842828442079563e-07,1.0,1461384.0,8.995119248295874e-07,1.0,nfe,1.314531875103312,8.995119248295874e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,1527872,1527872,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+1:115701358:C:T,CASQ2,VCV002574853,2574853,NM_001232.4(CASQ2):c.1083G>A (p.Trp361Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.841751652625111e-07,1.0,1461614.0,8.994730886646602e-07,1.0,nfe,1.3146819990718934,8.994730886646602e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2574853,2574853,,,,unmatched
+4:113317711:C:T,ANK2,VCV002631072,2631072,NM_001148.6(ANK2):c.2698C>T (p.Arg900Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842659878748067e-07,1.0,1461420.0,8.994682343798347e-07,1.0,nfe,1.3145004074701925,8.994682343798347e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2631072,2631072,ANK2-related disorder,ANK2-related disorder,ANK2-related disorder,variation_id
+3:38585767:C:T,SCN5A,VCV004747274,4747274,NM_000335.5(SCN5A):c.2711G>A (p.Trp904Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.841536335399477e-07,1.0,1461660.0,8.994035155884617e-07,1.0,nfe,1.3146216827251025,8.994035155884617e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4747274,4747274,,,,unmatched
+1:237784136:G:A,RYR2,VCV001009997,1009997,NM_001035.3(RYR2):c.12424G>A (p.Ala4142Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.841424001357339e-07,1.0,1461684.0,8.993986620545503e-07,1.0,nfe,1.3146361740478818,8.993986620545503e-07,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,1009997,1009997,Catecholaminergic polymorphic ventricular tachycardia 1|Paroxysmal familial ventricular fibrillation,Catecholaminergic polymorphic ventricular tachycardia 1|Paroxysmal familial ventricular fibrillation,Catecholaminergic polymorphic ventricular tachycardia 1|Paroxysmal familial ventricular fibrillation,variation_id
+4:113353464:T:C,ANK2,VCV004689790,4689790,NM_001148.6(ANK2):c.4846T>C (p.Cys1616Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840993421700726e-07,1.0,1461776.0,8.993210126354602e-07,1.0,nfe,1.314605412683571,8.993210126354602e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,4689790,4689790,,,,unmatched
+11:2585278:C:T,KCNQ1,VCV001791538,1791538,NM_000218.3(KCNQ1):c.1099C>T (p.Gln367Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.841676758139885e-07,1.0,1461630.0,8.993096898820465e-07,1.0,nfe,1.3144575624016888,8.993096898820465e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,1791538,1791538,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+4:113341707:C:T,ANK2,VCV003376712,3376712,NM_001148.6(ANK2):c.3913C>T (p.Arg1305Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840834308152222e-07,1.0,1461810.0,8.992999848917603e-07,1.0,nfe,1.3146052510215225,8.992999848917603e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3376712,3376712,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id
+11:2777974:A:G,KCNQ1,VCV001415094,1415094,NM_000218.3(KCNQ1):c.1733-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842163601605445e-07,1.0,1461526.0,8.992951324751659e-07,1.0,nfe,1.3143427583657852,8.992951324751659e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,1415094,1415094,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+4:113330289:C:T,ANK2,VCV000809661,809661,NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840693919991244e-07,1.0,1461840.0,8.992935150146045e-07,1.0,nfe,1.3146227720607964,8.992935150146045e-07,popmax,0.0,False,False,False,False,False,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.61; detectability=0.81,809661,809661,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+17:70176216:G:T,KCNJ2,VCV000638351,638351,NM_000891.3(KCNJ2):c.1177G>T (p.Gly393Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840750074564176e-07,1.0,1461828.0,8.992886626678298e-07,1.0,nfe,1.314604887272155,8.992886626678298e-07,popmax,0.0,False,False,False,False,True,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,638351,638351,Andersen Tawil syndrome,Andersen Tawil syndrome,Andersen Tawil syndrome,variation_id
+15:73329725:C:T,HCN4,VCV000970883,970883,NM_005477.3(HCN4):c.1438G>A (p.Gly480Ser),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840675202005138e-07,1.0,1461844.0,8.992870452305412e-07,1.0,nfe,1.314616911427151,8.992870452305412e-07,popmax,0.0,False,False,False,False,False,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.50; detectability=0.81,970883,970883,Brugada syndrome 8|Left ventricular noncompaction cardiomyopathy|Cardiovascular phenotype|HCN4-related disorder,Brugada syndrome 8|Left ventricular noncompaction cardiomyopathy|Cardiovascular phenotype|HCN4-related disorder,Brugada syndrome 8|Left ventricular noncompaction cardiomyopathy|Cardiovascular phenotype|HCN4-related disorder,variation_id
+11:2572904:T:C,KCNQ1,VCV002735505,2735505,NM_000218.3(KCNQ1):c.839T>C (p.Val280Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842322776997754e-07,1.0,1461492.0,8.992854277990709e-07,1.0,nfe,1.3142979991009085,8.992854277990709e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,2735505,2735505,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+15:73329721:T:C,HCN4,VCV001504964,1504964,NM_005477.3(HCN4):c.1442A>G (p.Tyr481Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840656484121468e-07,1.0,1461848.0,8.992838103734187e-07,1.0,nfe,1.314615779706313,8.992838103734187e-07,popmax,0.0,False,False,False,False,True,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,1504964,1504964,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id
+7:150950951:C:T,KCNH2,VCV001405357,1405357,NM_000238.4(KCNH2):c.2115G>A (p.Trp705Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840506744739651e-07,1.0,1461880.0,8.992741059416839e-07,1.0,nfe,1.3146303700421835,8.992741059416839e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1405357,1405357,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+17:70175958:A:G,KCNJ2,VCV000519476,519476,NM_000891.3(KCNJ2):c.919A>G (p.Met307Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840478669335365e-07,1.0,1461886.0,8.992741059416839e-07,1.0,nfe,1.3146357656770435,8.992741059416839e-07,popmax,0.0,False,False,False,False,False,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.50; detectability=0.81,519476,519476,Cardiovascular phenotype|Andersen Tawil syndrome;Short QT syndrome type 3|Cardiac arrhythmia,Cardiovascular phenotype|Andersen Tawil syndrome;Short QT syndrome type 3|Cardiac arrhythmia,Cardiovascular phenotype|Andersen Tawil syndrome;Short QT syndrome type 3|Cardiac arrhythmia,variation_id
+7:150951556:T:C,KCNH2,VCV002049671,2049671,NM_000238.4(KCNH2):c.1837A>G (p.Thr613Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840488027777854e-07,1.0,1461884.0,8.992708711776492e-07,1.0,nfe,1.314629238289217,8.992708711776492e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,2049671,2049671,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150958158:G:A,KCNH2,VCV001076382,1076382,NM_000238.4(KCNH2):c.817C>T (p.Arg273Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,8.45374281009174e-07,,,,,,1.1829066007303187e-06,8.45374281009174e-07,global,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,1076382,1076382,Long QT syndrome|Long QT syndrome 2||Cardiac arrhythmia,Long QT syndrome|Long QT syndrome 2||Cardiac arrhythmia,Long QT syndrome|Long QT syndrome 2||Cardiac arrhythmia,variation_id
+11:2571404:G:T,KCNQ1,VCV004614411,4614411,NM_000218.3(KCNQ1):c.683+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1457628.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,4614411,4614411,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+11:2445143:G:A,KCNQ1,VCV004531894,4531894,NM_000218.3(KCNQ1):c.45G>A (p.Trp15Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,978626.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,4531894,4531894,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2571378:C:T,KCNQ1,VCV004081467,4081467,NM_000218.3(KCNQ1):c.658C>T (p.Gln220Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1460484.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,4081467,4081467,,,,unmatched
+11:2572057:G:T,KCNQ1,VCV002904944,2904944,NM_000218.3(KCNQ1):c.728G>T (p.Arg243Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1460642.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,2904944,2904944,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2445447:C:A,KCNQ1,VCV001489978,1489978,NM_000218.3(KCNQ1):c.349C>A (p.Pro117Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1445140.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,1489978,1489978,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2775960:C:T,KCNQ1,VCV000965523,965523,NM_000218.3(KCNQ1):c.1591C>T (p.Gln531Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1404394.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,965523,965523,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2445251:C:A,KCNQ1,VCV000933168,933168,NM_000218.3(KCNQ1):c.153C>A (p.Tyr51Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1046344.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.64; detectability=0.81,933168,933168,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id
+11:2570756:T:C,KCNQ1,VCV000869440,869440,NM_000218.3(KCNQ1):c.604+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1458098.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,869440,869440,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2445149:G:A,KCNQ1,VCV000663623,663623,NM_000218.3(KCNQ1):c.51G>A (p.Trp17Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,983778.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,663623,663623,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2776056:T:C,KCNQ1,VCV000637975,637975,NM_000218.3(KCNQ1):c.1685+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1402144.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,637975,637975,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2445100:T:A,KCNQ1,VCV000488859,488859,NM_000218.3(KCNQ1):c.2T>A (p.Met1Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,936200.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,488859,488859,,,,unmatched
+11:2445222:G:T,KCNQ1,VCV000488698,488698,NM_000218.3(KCNQ1):c.124G>T (p.Glu42Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,987170.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,488698,488698,,,,unmatched
+11:2572089:G:A,KCNQ1,VCV000444879,444879,NM_000218.2(KCNQ1):c.[1249G>A;760G>A],Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,other_or_unresolved,0.0,0.0,1460076.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,444879,444879,,,,unmatched
+11:2445103:C:G,KCNQ1,VCV000431053,431053,NM_000218.3(KCNQ1):c.5C>G (p.Ala2Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,940006.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,431053,431053,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2445213:G:T,KCNQ1,VCV000375455,375455,NM_000218.3(KCNQ1):c.115G>T (p.Glu39Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,992758.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,375455,375455,"Jervell and Lange-Nielsen syndrome 1|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1","Jervell and Lange-Nielsen syndrome 1|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1","Jervell and Lange-Nielsen syndrome 1|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1",variation_id
+7:150958504:T:G,KCNH2,VCV004730168,4730168,NM_000238.4(KCNH2):c.473-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1323936.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,4730168,4730168,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150974834:G:A,KCNH2,VCV004725502,4725502,NM_000238.4(KCNH2):c.184C>T (p.Arg62Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1456028.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,4725502,4725502,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947786:C:A,KCNH2,VCV003895444,3895444,NM_000238.4(KCNH2):c.2785G>T (p.Glu929Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1381744.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3895444,3895444,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150958442:G:T,KCNH2,VCV003730888,3730888,NM_000238.4(KCNH2):c.533C>A (p.Ser178Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1311954.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3730888,3730888,,,,unmatched
+7:150950422:T:C,KCNH2,VCV003720789,3720789,NM_000238.4(KCNH2):c.2146-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1458974.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3720789,3720789,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150948486:G:A,KCNH2,VCV003720786,3720786,NM_000238.4(KCNH2):c.2650C>T (p.Gln884Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1373460.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3720786,3720786,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150948443:C:A,KCNH2,VCV003544414,3544414,NM_000238.4(KCNH2):c.2692+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1400560.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3544414,3544414,Hypertrophic cardiomyopathy 26,Hypertrophic cardiomyopathy 26,Hypertrophic cardiomyopathy 26,variation_id
+7:150958110:C:A,KCNH2,VCV003338695,3338695,NM_000238.4(KCNH2):c.865G>T (p.Glu289Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1144896.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3338695,3338695,,,,unmatched
+7:150945490:C:A,KCNH2,VCV003254535,3254535,NM_000238.4(KCNH2):c.3355G>T (p.Glu1119Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1407476.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3254535,3254535,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150958287:C:A,KCNH2,VCV002831712,2831712,NM_000238.4(KCNH2):c.688G>T (p.Glu230Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1311050.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,2831712,2831712,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150958446:C:A,KCNH2,VCV002136630,2136630,NM_000238.4(KCNH2):c.529G>T (p.Glu177Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1314472.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,2136630,2136630,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,variation_id
+7:150947458:G:A,KCNH2,VCV001968021,1968021,NM_000238.4(KCNH2):c.3022C>T (p.Gln1008Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1416682.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,1968021,1968021,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150958335:C:A,KCNH2,VCV001810619,1810619,NM_000238.4(KCNH2):c.640G>T (p.Glu214Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1337032.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1810619,1810619,,,,unmatched
+7:150974768:G:A,KCNH2,VCV001792370,1792370,NM_000238.4(KCNH2):c.250C>T (p.Gln84Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1453842.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1792370,1792370,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150947344:G:A,KCNH2,VCV001728012,1728012,NM_000238.4(KCNH2):c.3136C>T (p.Gln1046Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1391714.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1728012,1728012,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150958504:T:C,KCNH2,VCV001466419,1466419,NM_000238.4(KCNH2):c.473-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1323936.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1466419,1466419,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150974786:C:T,KCNH2,VCV001197726,1197726,NM_000238.4(KCNH2):c.232G>A (p.Ala78Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1452442.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,1197726,1197726,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150974942:C:A,KCNH2,VCV001171507,1171507,NM_000238.4(KCNH2):c.77-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1440802.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1171507,1171507,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+7:150977837:C:T,KCNH2,VCV001066606,1066606,NM_000238.4(KCNH2):c.76+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1395200.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1066606,1066606,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950166:A:T,KCNH2,VCV000560686,560686,NM_000238.4(KCNH2):c.2398+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,550050.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,560686,560686,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150947327:C:A,KCNH2,VCV000373026,373026,NM_000238.4(KCNH2):c.3152+1G>T,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1388730.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,373026,373026,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+3:38550937:G:T,SCN5A,VCV004756584,4756584,NM_000335.5(SCN5A):c.5432C>A (p.Ser1811Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461814.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4756584,4756584,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+3:38613754:G:C,SCN5A,VCV003950971,3950971,NM_000335.5(SCN5A):c.692C>G (p.Ser231Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1450430.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3950971,3950971,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38597755:C:A,SCN5A,VCV003717482,3717482,NM_000335.5(SCN5A):c.2236G>T (p.Glu746Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1456158.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3717482,3717482,,,,unmatched
+3:38581200:G:A,SCN5A,VCV003662749,3662749,NM_000335.5(SCN5A):c.2959C>T (p.Gln987Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1458838.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3662749,3662749,,,,unmatched
+3:38560152:G:A,SCN5A,VCV003662441,3662441,NM_000335.5(SCN5A):c.4237C>T (p.Gln1413Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1459868.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3662441,3662441,,,,unmatched
+3:38606687:C:T,SCN5A,VCV002910169,2910169,NM_000335.5(SCN5A):c.1122G>A (p.Trp374Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461218.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2910169,2910169,,,,unmatched
+3:38579496:C:T,SCN5A,VCV001965471,1965471,NM_001099404.2(SCN5A):c.3229-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1455140.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,1965471,1965471,,,,unmatched
+3:38613808:C:T,SCN5A,VCV001684121,1684121,NM_000335.5(SCN5A):c.638G>A (p.Gly213Asp),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1457634.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,1684121,1684121,,,,unmatched
+3:38556559:C:T,SCN5A,VCV001375303,1375303,NM_000335.5(SCN5A):c.4316G>A (p.Trp1439Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461152.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,1375303,1375303,,,,unmatched
+3:38566558:C:A,SCN5A,VCV000979202,979202,NM_000335.5(SCN5A):c.3688G>T (p.Glu1230Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461610.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,979202,979202,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+3:38613824:C:A,SCN5A,VCV000858096,858096,NM_000335.5(SCN5A):c.622G>T (p.Glu208Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1455108.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,858096,858096,,,,unmatched
+21:34449585:C:T,KCNE1,VCV000547163,547163,NM_000219.6(KCNE1):c.50G>A (p.Trp17Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,LOF,0.0,0.0,908958.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.4166666666666667,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.42; detectability=0.81,547163,547163,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5,variation_id
+1:237828429:T:C,RYR2,VCV004746934,4746934,NM_001035.3(RYR2):c.14639T>C (p.Val4880Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1413372.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,4746934,4746934,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237795313:C:A,RYR2,VCV002828493,2828493,NM_001035.3(RYR2):c.13938C>A (p.Asp4646Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1276004.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,2828493,2828493,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237491911:G:T,RYR2,VCV002737123,2737123,NM_001035.3(RYR2):c.1814G>T (p.Gly605Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1129636.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,2737123,2737123,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237772037:G:T,RYR2,VCV002203008,2203008,NM_001035.3(RYR2):c.11583G>T (p.Gln3861His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1394334.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,2203008,2203008,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237778753:C:A,RYR2,VCV001804987,1804987,NM_001035.3(RYR2):c.11863C>A (p.Gln3955Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1448574.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,1804987,1804987,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237042549:G:T,RYR2,VCV001678118,1678118,NM_001035.3(RYR2):c.28G>T (p.Glu10Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1108862.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,1678118,1678118,,,,unmatched
+1:237772077:G:T,RYR2,VCV001480581,1480581,NM_001035.3(RYR2):c.11623G>T (p.Val3875Leu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1386722.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,1480581,1480581,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1|Arrhythmogenic right ventricular dysplasia 2,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1|Arrhythmogenic right ventricular dysplasia 2,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1|Arrhythmogenic right ventricular dysplasia 2,variation_id
+1:237828428:G:A,RYR2,VCV001439521,1439521,NM_001035.3(RYR2):c.14638G>A (p.Val4880Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1413512.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,1439521,1439521,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237772075:C:T,RYR2,VCV001328938,1328938,NM_001035.3(RYR2):c.11621C>T (p.Thr3874Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,,,,,,1.0,0.0,global,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,1328938,1328938,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237772033:C:T,RYR2,VCV001035886,1035886,NM_001035.3(RYR2):c.11579C>T (p.Thr3860Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,,,,,,1.0,0.0,global,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,1035886,1035886,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id
+1:237784046:G:A,RYR2,VCV001021015,1021015,NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1461680.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,1021015,1021015,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id
+1:237783718:G:A,RYR2,VCV000869430,869430,NM_001035.3(RYR2):c.12006G>A (p.Met4002Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1459208.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,869430,869430,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237772044:A:G,RYR2,VCV000656670,656670,NM_001035.3(RYR2):c.11590A>G (p.Asn3864Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1400372.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,656670,656670,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237772078:T:C,RYR2,VCV000581079,581079,NM_001035.3(RYR2):c.11624T>C (p.Val3875Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1384914.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,581079,581079,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237369568:A:G,RYR2,VCV000572162,572162,NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1412948.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,572162,572162,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237042565:G:C,RYR2,VCV000463600,463600,NM_001035.3(RYR2):c.44G>C (p.Arg15Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1109590.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,463600,463600,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237772077:G:A,RYR2,VCV000404183,404183,NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1386722.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,404183,404183,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id
+1:115705191:C:T,CASQ2,VCV002754358,2754358,NM_001232.4(CASQ2):c.939+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1449556.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2754358,2754358,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:115726993:T:A,CASQ2,VCV002505552,2505552,NM_001232.4(CASQ2):c.736A>T (p.Arg246Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1209268.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2505552,2505552,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id
+1:115702920:C:T,CASQ2,VCV001457736,1457736,NM_001232.4(CASQ2):c.1014+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1459946.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,1457736,1457736,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123512333:C:A,TRDN,VCV003894738,3894738,NM_006073.4(TRDN):c.580G>T (p.Glu194Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1350466.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,3894738,3894738,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+6:123438943:C:T,TRDN,VCV003717909,3717909,NM_006073.4(TRDN):c.991+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1406010.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,3717909,3717909,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123547340:C:A,TRDN,VCV002762883,2762883,NM_006073.4(TRDN):c.424G>T (p.Glu142Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1302576.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,2762883,2762883,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123278327:C:A,TRDN,VCV002434224,2434224,NM_006073.4(TRDN):c.1558G>T (p.Glu520Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1144364.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,2434224,2434224,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id
+6:123548540:C:T,TRDN,VCV001799347,1799347,NM_006073.4(TRDN):c.305G>A (p.Trp102Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1423754.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,1799347,1799347,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+6:123548453:C:T,TRDN,VCV001517713,1517713,NM_006073.4(TRDN):c.391+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1401032.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.39; detectability=0.81,1517713,1517713,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,variation_id
+2:47160803:C:G,CALM2,VCV001467722,1467722,NM_001743.6(CALM2):c.423G>C (p.Glu141Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1220958.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.75,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.75; detectability=0.81,1467722,1467722,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+4:113264996:G:A,ANK2,VCV003721367,3721367,NM_001148.6(ANK2):c.1485+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1405178.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3721367,3721367,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+4:113264927:C:T,ANK2,VCV002446019,2446019,NM_001148.6(ANK2):c.1417C>T (p.Arg473Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1415518.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2446019,2446019,See cases,See cases,See cases,variation_id
+12:2595878:C:T,CACNA1C,VCV003899523,3899523,NM_000719.7(CACNA1C):c.2668C>T (p.Arg890Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1461100.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,3899523,3899523,,,,unmatched
+12:2566430:G:A,CACNA1C,VCV003601972,3601972,NM_000719.7(CACNA1C):c.1517G>A (p.Trp506Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1440630.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,3601972,3601972,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id
+12:2566465:C:A,CACNA1C,VCV003233417,3233417,NM_000719.7(CACNA1C):c.1552C>A (p.Arg518Ser),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,0.0,0.0,1443586.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,3233417,3233417,Timothy syndrome;Long QT syndrome,Timothy syndrome;Long QT syndrome,Timothy syndrome;Long QT syndrome,variation_id
+12:2581622:C:T,CACNA1C,VCV001707563,1707563,NM_000719.7(CACNA1C):c.1928C>T (p.Ser643Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1426284.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,1707563,1707563,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id
+12:2666684:A:G,CACNA1C,VCV001218634,1218634,NM_000719.7(CACNA1C):c.4527-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1427552.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,1218634,1218634,,,,unmatched
+11:2571331:T:TC,KCNQ1,VCV004811016,4811016,NM_000218.3(KCNQ1):c.612dup (p.Val205fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4811016,4811016,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2585246:A:AGCAGAAGCAGAG,KCNQ1,VCV004750132,4750132,NM_000218.3(KCNQ1):c.1077_1088dup (p.Lys362_His363insGlnArgGlnLys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4750132,4750132,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2445473:C:G,KCNQ1,VCV004732891,4732891,NM_000218.3(KCNQ1):c.375C>G (p.Tyr125Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4732891,4732891,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2778034:C:CA,KCNQ1,VCV004719475,4719475,NM_000218.3(KCNQ1):c.1793dup (p.Val599fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4719475,4719475,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2527967:GT:G,KCNQ1,VCV004714005,4714005,NM_000218.3(KCNQ1):c.427del (p.Ser143fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4714005,4714005,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2583471:C:A,KCNQ1,VCV004709530,4709530,NM_000218.3(KCNQ1):c.958C>A (p.Pro320Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4709530,4709530,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2777975:G:A,KCNQ1,VCV004688928,4688928,NM_000218.3(KCNQ1):c.1733-1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4688928,4688928,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2572936:TC:T,KCNQ1,VCV004278376,4278376,NM_000218.3(KCNQ1):c.872del (p.Glu290_Ser291insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4278376,4278376,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2768837:ACTGCAGG:A,KCNQ1,VCV004090692,4090692,NM_000218.3(KCNQ1):c.1515-2_1519del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4090692,4090692,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+11:2778007:C:CA,KCNQ1,VCV004084700,4084700,NM_000218.3(KCNQ1):c.1764_1765insA (p.Gly589fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4084700,4084700,,,,unmatched
+11:2777984:AAGGATCGCGGC:A,KCNQ1,VCV004084699,4084699,NM_000218.3(KCNQ1):c.1744_1754del (p.Asp582fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4084699,4084699,,,,unmatched
+11:2775999:CAGTAC:GTGAG,KCNQ1,VCV004076475,4076475,NM_000218.3(KCNQ1):c.1630_1635delinsGTGAG (p.Gln544fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4076475,4076475,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+11:2572977:G:A,KCNQ1,VCV004070996,4070996,NM_000218.3(KCNQ1):c.912G>A (p.Trp304Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4070996,4070996,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id
+11:2778014:C:G,KCNQ1,VCV003901502,3901502,NM_000218.3(KCNQ1):c.1771C>G (p.Arg591Gly),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3901502,3901502,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2585274:C:G,KCNQ1,VCV003898708,3898708,NM_000218.3(KCNQ1):c.1095C>G (p.Asn365Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3898708,3898708,,,,unmatched
+11:2585218:C:T,KCNQ1,VCV003895224,3895224,NM_000218.3(KCNQ1):c.1039C>T (p.Leu347Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3895224,3895224,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+11:2768895:C:G,KCNQ1,VCV003895223,3895223,NM_000218.3(KCNQ1):c.1566C>G (p.Tyr522Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3895223,3895223,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+11:2775970:AG:A,KCNQ1,VCV003894930,3894930,NM_000218.3(KCNQ1):c.1602del (p.Lys534fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894930,3894930,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+11:2775959:G:C,KCNQ1,VCV003894017,3894017,NM_000218.3(KCNQ1):c.1591-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894017,3894017,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+11:2662020:TTCGCC:T,KCNQ1,VCV003893245,3893245,NM_000218.3(KCNQ1):c.1454_1458del (p.Ser484_Phe485insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3893245,3893245,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2662017:AGC:A,KCNQ1,VCV003893242,3893242,NM_000218.3(KCNQ1):c.1451_1452del (p.Ser484fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3893242,3893242,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2571344:C:TT,KCNQ1,VCV003862988,3862988,NM_000218.3(KCNQ1):c.624delinsTT (p.Ser209fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3862988,3862988,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+11:2571394:C:A,KCNQ1,VCV003774956,3774956,NM_000218.3(KCNQ1):c.674C>A (p.Ser225Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3774956,3774956,,,,unmatched
+11:2583446:CACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGGTCGGGAAG:C,KCNQ1,VCV003769591,3769591,NM_000218.3(KCNQ1):c.941_985del (p.Gly314_Ile328del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3769591,3769591,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2768920:G:C,KCNQ1,VCV003726879,3726879,NM_000218.3(KCNQ1):c.1590+1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3726879,3726879,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2527959:A:C,KCNQ1,VCV003719869,3719869,NM_000218.3(KCNQ1):c.418A>C (p.Ser140Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3719869,3719869,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2570713:G:A,KCNQ1,VCV003693769,3693769,NM_000218.3(KCNQ1):c.563G>A (p.Trp188Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3693769,3693769,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2587651:ACT:A,KCNQ1,VCV003669101,3669101,NM_000218.3(KCNQ1):c.1213_1214del (p.Leu405fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3669101,3669101,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2572945:GTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTG:CAC,KCNQ1,VCV003660922,3660922,NM_000218.3(KCNQ1):c.880_921+630delinsCAC,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3660922,3660922,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2768890:C:T,KCNQ1,VCV003659274,3659274,NM_000218.3(KCNQ1):c.1561C>T (p.Gln521Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3659274,3659274,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2528014:G:A,KCNQ1,VCV003659247,3659247,NM_000218.3(KCNQ1):c.473G>A (p.Trp158Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3659247,3659247,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2445162:G:GGC,KCNQ1,VCV003648787,3648787,NM_000218.3(KCNQ1):c.67_68dup (p.Arg24fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3648787,3648787,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2572032:A:C,KCNQ1,VCV003641656,3641656,NM_000218.3(KCNQ1):c.703A>C (p.Ile235Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3641656,3641656,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2572026:C:A,KCNQ1,VCV003603667,3603667,NM_000218.3(KCNQ1):c.697C>A (p.Leu233Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3603667,3603667,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2570626:A:G,KCNQ1,VCV003601179,3601179,NM_000218.3(KCNQ1):c.478-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3601179,3601179,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id
+11:2776985:G:T,KCNQ1,VCV003392793,3392793,NM_000218.3(KCNQ1):c.1686-1G>T,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3392793,3392793,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2661995:GC:G,KCNQ1,VCV003383201,3383201,NM_000218.3(KCNQ1):c.1432del (p.His478fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3383201,3383201,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2588714:TAAAG:T,KCNQ1,VCV003383071,3383071,NM_000218.3(KCNQ1):c.1257_1260del (p.Lys421fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3383071,3383071,"Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3","Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3","Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3",variation_id
+11:2572073:G:A,KCNQ1,VCV003382790,3382790,NM_000218.3(KCNQ1):c.744G>A (p.Trp248Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3382790,3382790,"Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3","Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3","Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3",variation_id
+11:2583540:C:G,KCNQ1,VCV003376696,3376696,NM_000218.3(KCNQ1):c.1027C>G (p.Pro343Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3376696,3376696,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2585209:CA:C,KCNQ1,VCV003376665,3376665,NM_000218.3(KCNQ1):c.1033-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3376665,3376665,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2445419:G:C,KCNQ1,VCV003376650,3376650,NM_000218.3(KCNQ1):c.321G>C (p.Gln107His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3376650,3376650,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2585213:G:T,KCNQ1,VCV003338779,3338779,NM_000218.3(KCNQ1):c.1034G>T (p.Gly345Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3338779,3338779,,,,unmatched
+11:2570658:G:A,KCNQ1,VCV003338330,3338330,NM_000218.3(KCNQ1):c.508G>A (p.Glu170Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3338330,3338330,Atrial fibrillation,Atrial fibrillation,Atrial fibrillation,variation_id
+11:2445320:AG:A,KCNQ1,VCV003337204,3337204,NM_000218.3(KCNQ1):c.223del (p.Val75fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3337204,3337204,,,,unmatched
+11:2445305:GC:G,KCNQ1,VCV003335922,3335922,NM_000218.3(KCNQ1):c.210del (p.Ala71fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3335922,3335922,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id
+11:2778014:C:A,KCNQ1,VCV003235934,3235934,NM_000218.3(KCNQ1):c.1771C>A (p.Arg591Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3235934,3235934,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2847776:CTGGACCAGAGGCTGGCACTCATCACCGACATGCTTCACCAGCTGCTCTCCTTGCACGGTGGCAGCACCCCCGGCAGCGGCGGCCCCCCCAGAGAGGGCGGGGCCCACATCACCCAGCCCTGCGGCAGTGGCGGCTCCGTCGACCCTGAGCTCTTCCTGCCCAGCAACACCCTGCCCACCTACGAGCAGCTGACCGTGCCCAGGAGGGGCCCCGATGAGGGGTCCTGAGGAGGGGATGGGGCTGGGGGATGGGCCTGAGTGAGAGGGGAGGCCAAGAGTGGCCCCACCTGGCCCTCTCTGAAGGAGGCCACCTCCTAAAAGGCCCAGAGAGAAGAGCCCCACTCTCAGAGGCCCCAATACCCCA:C,KCNQ1,VCV003235891,3235891,NM_000218.3(KCNQ1):c.1812_*143del (p.Gln604_Ter677delinsXaa),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3235891,3235891,"Atrial fibrillation, familial, 3;Short QT syndrome type 2;Long QT syndrome 1","Atrial fibrillation, familial, 3;Short QT syndrome type 2;Long QT syndrome 1","Atrial fibrillation, familial, 3;Short QT syndrome type 2;Long QT syndrome 1",variation_id
+11:2777033:G:T,KCNQ1,VCV003075923,3075923,NM_000218.3(KCNQ1):c.1732+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3075923,3075923,Jervell and Lange-Nielsen syndrome,Jervell and Lange-Nielsen syndrome,Jervell and Lange-Nielsen syndrome,variation_id
+11:2572976:G:T,KCNQ1,VCV002982293,2982293,NM_000218.3(KCNQ1):c.911G>T (p.Trp304Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2982293,2982293,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2587564:CCTCAGACCGCATGGAGGTGCTATGCTG:C,KCNQ1,VCV002971269,2971269,NM_000218.3(KCNQ1):c.1129-4_1151del,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2971269,2971269,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2572980:G:C,KCNQ1,VCV002837284,2837284,NM_000218.3(KCNQ1):c.915G>C (p.Trp305Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2837284,2837284,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,variation_id
+11:2572047:CACGTCG:C,KCNQ1,VCV002836375,2836375,NM_000218.3(KCNQ1):c.721_726del (p.Val241_Asp242del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2836375,2836375,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2570735:G:GA,KCNQ1,VCV002828480,2828480,NM_000218.3(KCNQ1):c.587dup (p.Pro197fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2828480,2828480,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2571383:GT:G,KCNQ1,VCV002814371,2814371,NM_000218.3(KCNQ1):c.666del (p.Phe222fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2814371,2814371,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2585274:CC:AT,KCNQ1,VCV002811762,2811762,NM_000218.3(KCNQ1):c.1095_1096delinsAT (p.Asn365_Arg366delinsLysTrp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2811762,2811762,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2585215:AT:A,KCNQ1,VCV002807267,2807267,NM_000218.3(KCNQ1):c.1038del (p.Gly348fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2807267,2807267,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2777020:AT:A,KCNQ1,VCV002773484,2773484,NM_000218.3(KCNQ1):c.1721del (p.Ile574fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2773484,2773484,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id
+11:2588712:G:A,KCNQ1,VCV002773474,2773474,NM_000218.3(KCNQ1):c.1252-1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2773474,2773474,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id
+11:2776003:A:T,KCNQ1,VCV002770494,2770494,NM_000218.3(KCNQ1):c.1634A>T (p.Tyr545Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2770494,2770494,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2445486:T:G,KCNQ1,VCV002748943,2748943,NM_000218.3(KCNQ1):c.386+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2748943,2748943,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2570677:G:C,KCNQ1,VCV002747611,2747611,NM_000218.3(KCNQ1):c.527G>C (p.Trp176Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2747611,2747611,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2662041:GA:G,KCNQ1,VCV002725492,2725492,NM_000218.3(KCNQ1):c.1476del (p.Glu494fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2725492,2725492,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2528019:G:C,KCNQ1,VCV002724418,2724418,NM_000218.3(KCNQ1):c.477+1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2724418,2724418,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2572854:AAC:A,KCNQ1,VCV002723186,2723186,NM_000218.3(KCNQ1):c.790_791del (p.Thr264fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2723186,2723186,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2572978:T:A,KCNQ1,VCV002719407,2719407,NM_000218.3(KCNQ1):c.913T>A (p.Trp305Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2719407,2719407,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2768884:CGCAT:C,KCNQ1,VCV002708573,2708573,NM_000218.3(KCNQ1):c.1559_1562del (p.Met520fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2708573,2708573,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2585300:TC:T,KCNQ1,VCV002692770,2692770,NM_000218.3(KCNQ1):c.1122del (p.Ile375fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2692770,2692770,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2778039:T:C,KCNQ1,VCV002587406,2587406,NM_000218.3(KCNQ1):c.1794+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2587406,2587406,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+11:2572976:G:A,KCNQ1,VCV002587403,2587403,NM_000218.3(KCNQ1):c.911G>A (p.Trp304Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2587403,2587403,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+11:2445453:G:GC,KCNQ1,VCV002577445,2577445,NM_000218.3(KCNQ1):c.355_356insC (p.Gly119fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2577445,2577445,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2587660:T:TG,KCNQ1,VCV002575074,2575074,NM_000218.3(KCNQ1):c.1219_1220insG (p.Ser407fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575074,2575074,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2585246:AGCAGAAGCAGAG:A,KCNQ1,VCV002575071,2575071,NM_000218.3(KCNQ1):c.1077_1088del (p.Gln359_Lys362del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575071,2575071,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2527927:G:C,KCNQ1,VCV002575070,2575070,NM_000218.3(KCNQ1):c.387-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575070,2575070,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2662053:CT:C,KCNQ1,VCV002575068,2575068,NM_000218.3(KCNQ1):c.1487del (p.Leu496fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575068,2575068,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2527938:GT:G,KCNQ1,VCV002575067,2575067,NM_000218.3(KCNQ1):c.398del (p.Val133fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2575067,2575067,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2778038:G:A,KCNQ1,VCV002575066,2575066,NM_000218.3(KCNQ1):c.1794+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2575066,2575066,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2572850:T:A,KCNQ1,VCV002575065,2575065,NM_000218.3(KCNQ1):c.785T>A (p.Leu262Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575065,2575065,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2583533:T:G,KCNQ1,VCV002575064,2575064,NM_000218.3(KCNQ1):c.1020T>G (p.Phe340Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575064,2575064,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2572975:T:G,KCNQ1,VCV002575063,2575063,NM_000218.3(KCNQ1):c.910T>G (p.Trp304Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575063,2575063,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2572852:AT:A,KCNQ1,VCV002574107,2574107,NM_000218.3(KCNQ1):c.788del (p.Ile263fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2574107,2574107,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2585297:C:A,KCNQ1,VCV002574106,2574106,NM_000218.3(KCNQ1):c.1118C>A (p.Ser373Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2574106,2574106,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2572882:C:A,KCNQ1,VCV002574013,2574013,NM_000218.3(KCNQ1):c.817C>A (p.Leu273Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2574013,2574013,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2768908:A:G,KCNQ1,VCV002574002,2574002,NM_000218.3(KCNQ1):c.1579A>G (p.Lys527Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2574002,2574002,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2572040:GATGCTAC:G,KCNQ1,VCV002567545,2567545,NM_000218.3(KCNQ1):c.713_719del (p.Met238fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2567545,2567545,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+11:2778024:G:T,KCNQ1,VCV002502702,2502702,NM_000218.3(KCNQ1):c.1781G>T (p.Arg594Leu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2502702,2502702,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2445344:GC:G,KCNQ1,VCV002502315,2502315,NM_000218.3(KCNQ1):c.248del (p.Pro83fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2502315,2502315,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2572862:T:A,KCNQ1,VCV002498480,2498480,NM_000218.3(KCNQ1):c.797T>A (p.Leu266Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2498480,2498480,,,,unmatched
+11:2583443:CA:C,KCNQ1,VCV002453279,2453279,NM_000218.3(KCNQ1):c.931del (p.Thr311fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2453279,2453279,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+11:2570685:G:C,KCNQ1,VCV002446426,2446426,NM_000218.3(KCNQ1):c.535G>C (p.Gly179Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2446426,2446426,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2583546:G:T,KCNQ1,VCV002136962,2136962,NM_000218.3(KCNQ1):c.1032+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2136962,2136962,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2572104:C:G,KCNQ1,VCV002136957,2136957,NM_000218.3(KCNQ1):c.775C>G (p.Arg259Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2136957,2136957,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2583460:G:C,KCNQ1,VCV002130527,2130527,NM_000218.3(KCNQ1):c.947G>C (p.Gly316Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2130527,2130527,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2768911:A:AAT,KCNQ1,VCV002129901,2129901,NM_000218.3(KCNQ1):c.1583_1584insTA (p.Lys528fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2129901,2129901,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2583470:GC:TT,KCNQ1,VCV002129108,2129108,NM_000218.3(KCNQ1):c.957_958delinsTT (p.Pro320Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2129108,2129108,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2570701:ACGTGGGCCTCTGGGGGCGGCTG:A,KCNQ1,VCV002102490,2102490,NM_000218.3(KCNQ1):c.554_575del (p.Val185fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2102490,2102490,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2445430:A:C,KCNQ1,VCV002035007,2035007,NM_000218.3(KCNQ1):c.332A>C (p.Tyr111Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2035007,2035007,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2588739:C:CA,KCNQ1,VCV002028871,2028871,NM_000218.3(KCNQ1):c.1281dup (p.Asp428fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2028871,2028871,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2776027:TG:T,KCNQ1,VCV002023188,2023188,NM_000218.3(KCNQ1):c.1660del (p.Val554fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2023188,2023188,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id
+11:2587681:A:T,KCNQ1,VCV002017757,2017757,NM_000218.3(KCNQ1):c.1240A>T (p.Lys414Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2017757,2017757,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2583546:G:C,KCNQ1,VCV002017498,2017498,NM_000218.3(KCNQ1):c.1032+1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2017498,2017498,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2571346:C:CA,KCNQ1,VCV002004187,2004187,NM_000218.3(KCNQ1):c.626_627insA (p.Met210fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2004187,2004187,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2768888:T:A,KCNQ1,VCV002000331,2000331,NM_000218.3(KCNQ1):c.1559T>A (p.Met520Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2000331,2000331,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2587665:CA:C,KCNQ1,VCV001879152,1879152,NM_000218.3(KCNQ1):c.1225del (p.Ser409fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1879152,1879152,,,,unmatched
+11:2571364:TG:T,KCNQ1,VCV001802109,1802109,NM_000218.3(KCNQ1):c.647del (p.Gly216fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1802109,1802109,,,,unmatched
+11:2445203:C:CT,KCNQ1,VCV001786030,1786030,NM_000218.3(KCNQ1):c.107dup (p.Ser37fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1786030,1786030,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id
+11:2776986:G:C,KCNQ1,VCV001778018,1778018,NM_000218.3(KCNQ1):c.1686G>C (p.Arg562Ser),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1778018,1778018,"Cardiovascular phenotype|Long QT syndrome|Atrial fibrillation, familial, 3","Cardiovascular phenotype|Long QT syndrome|Atrial fibrillation, familial, 3","Cardiovascular phenotype|Long QT syndrome|Atrial fibrillation, familial, 3",variation_id
+11:2585210:A:AGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCT,KCNQ1,VCV001771701,1771701,NM_000218.3(KCNQ1):c.1033-1_1117dup,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,splice_or_intronic,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1771701,1771701,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,variation_id
+11:2588779:G:GTCCCCCATATCACGTGCGA,KCNQ1,VCV001769838,1769838,NM_000218.3(KCNQ1):c.1319_1337dup (p.Glu449fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1769838,1769838,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+11:2583481:G:A,KCNQ1,VCV001723453,1723453,NM_000218.3(KCNQ1):c.968G>A (p.Trp323Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1723453,1723453,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2572886:T:A,KCNQ1,VCV001711271,1711271,NM_000218.3(KCNQ1):c.821T>A (p.Ile274Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1711271,1711271,,,,unmatched
+11:2570663:C:CGTGGTCCGCCT,KCNQ1,VCV001709048,1709048,NM_000218.3(KCNQ1):c.514_524dup (p.Gly179fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1709048,1709048,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2662026:G:T,KCNQ1,VCV001708065,1708065,NM_000218.3(KCNQ1):c.1459G>T (p.Glu487Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1708065,1708065,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2445485:G:T,KCNQ1,VCV001522663,1522663,NM_000218.3(KCNQ1):c.386+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1522663,1522663,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2661959:A:G,KCNQ1,VCV001500718,1500718,NM_000218.3(KCNQ1):c.1394-2A>G,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1500718,1500718,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id
+11:2585309:T:A,KCNQ1,VCV001500707,1500707,NM_000218.3(KCNQ1):c.1128+2T>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1500707,1500707,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id
+11:2571324:G:A,KCNQ1,VCV001493047,1493047,NM_000218.3(KCNQ1):c.605-1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1493047,1493047,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2583531:T:C,KCNQ1,VCV001488375,1488375,NM_000218.3(KCNQ1):c.1018T>C (p.Phe340Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1488375,1488375,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2445400:T:A,KCNQ1,VCV001457098,1457098,NM_000218.3(KCNQ1):c.302T>A (p.Leu101Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1457098,1457098,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2587588:G:GC,KCNQ1,VCV001454915,1454915,NM_000218.3(KCNQ1):c.1148dup (p.Ala384fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1454915,1454915,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2572899:C:CT,KCNQ1,VCV001454509,1454509,NM_000218.3(KCNQ1):c.837dup (p.Val280fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1454509,1454509,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2445457:GGAAATGCTTC:G,KCNQ1,VCV001454382,1454382,NM_000218.3(KCNQ1):c.361_370del (p.Lys121fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1454382,1454382,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,variation_id
+11:2572099:T:TCCACC,KCNQ1,VCV001452627,1452627,NM_000218.3(KCNQ1):c.771_775dup (p.Arg259fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1452627,1452627,"Long QT syndrome|Short QT syndrome type 2;Long QT syndrome 1;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1","Long QT syndrome|Short QT syndrome type 2;Long QT syndrome 1;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1","Long QT syndrome|Short QT syndrome type 2;Long QT syndrome 1;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1",variation_id
+11:2572975:T:TGGTG,KCNQ1,VCV001451451,1451451,NM_000218.3(KCNQ1):c.913_916dup (p.Gly306fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1451451,1451451,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2583486:G:T,KCNQ1,VCV001449449,1449449,NM_000218.3(KCNQ1):c.973G>T (p.Gly325Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1449449,1449449,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2587647:CCACACTCTGCTGT:C,KCNQ1,VCV001445000,1445000,NM_000218.3(KCNQ1):c.1210_1222del (p.Thr404fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1445000,1445000,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2583456:T:A,KCNQ1,VCV001439097,1439097,NM_000218.3(KCNQ1):c.943T>A (p.Tyr315Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1439097,1439097,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2571394:C:G,KCNQ1,VCV001438413,1438413,NM_000218.3(KCNQ1):c.674C>G (p.Ser225Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1438413,1438413,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2572096:TCATC:T,KCNQ1,VCV001437397,1437397,NM_000218.3(KCNQ1):c.770_773del (p.Ile257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1437397,1437397,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2588814:GC:G,KCNQ1,VCV001426804,1426804,NM_000218.3(KCNQ1):c.1354del (p.Arg452fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1426804,1426804,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id
+11:2583446:C:CACCATCGG,KCNQ1,VCV001416082,1416082,NM_000218.3(KCNQ1):c.934_941dup (p.Tyr315fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1416082,1416082,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2572029:C:T,KCNQ1,VCV001414164,1414164,NM_000218.3(KCNQ1):c.700C>T (p.Gln234Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1414164,1414164,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id
+11:2583472:C:T,KCNQ1,VCV001411474,1411474,NM_000218.3(KCNQ1):c.959C>T (p.Pro320Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1411474,1411474,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2572987:G:A,KCNQ1,VCV001384067,1384067,NM_000218.3(KCNQ1):c.921+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1384067,1384067,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,variation_id
+11:2528020:T:C,KCNQ1,VCV001350731,1350731,NM_000218.3(KCNQ1):c.477+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1350731,1350731,Long QT syndrome|Familial prostate cancer,Long QT syndrome|Familial prostate cancer,Long QT syndrome|Familial prostate cancer,variation_id
+11:2570625:CAGG:C,KCNQ1,VCV001343361,1343361,NM_000218.2(KCNQ1):c.478_480del,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1343361,1343361,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2588712:G:C,KCNQ1,VCV001342782,1342782,NM_000218.3(KCNQ1):c.1252-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,1342782,1342782,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2571323:A:G,KCNQ1,VCV001342708,1342708,NM_000218.3(KCNQ1):c.605-2A>G,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1342708,1342708,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,variation_id
+11:2768921:T:A,KCNQ1,VCV001331817,1331817,NM_000218.3(KCNQ1):c.1590+2T>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1331817,1331817,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+11:2572976:G:C,KCNQ1,VCV001212402,1212402,NM_000218.3(KCNQ1):c.911G>C (p.Trp304Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1212402,1212402,,,,unmatched
+11:2585276:G:T,KCNQ1,VCV001185948,1185948,NM_000218.3(KCNQ1):c.1097G>T (p.Arg366Leu),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1185948,1185948,Long QT syndrome|Cardiovascular phenotype|Cardiac arrhythmia,Long QT syndrome|Cardiovascular phenotype|Cardiac arrhythmia,Long QT syndrome|Cardiovascular phenotype|Cardiac arrhythmia,variation_id
+11:2587690:G:GT,KCNQ1,VCV001179766,1179766,NM_000218.3(KCNQ1):c.1250dup (p.Val418fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1179766,1179766,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,variation_id
+11:2778034:CAA:C,KCNQ1,VCV001171410,1171410,NM_000218.3(KCNQ1):c.1792_1793del (p.Lys598fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1171410,1171410,Cardiac arrhythmia|Cardiovascular phenotype|Long QT syndrome,Cardiac arrhythmia|Cardiovascular phenotype|Long QT syndrome,Cardiac arrhythmia|Cardiovascular phenotype|Long QT syndrome,variation_id
+11:2587622:TC:T,KCNQ1,VCV001076090,1076090,NM_000218.3(KCNQ1):c.1182del (p.Tyr395fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1076090,1076090,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2445482:CG:C,KCNQ1,VCV001075209,1075209,NM_000218.3(KCNQ1):c.385del (p.Val129fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1075209,1075209,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2445457:G:A,KCNQ1,VCV001074347,1074347,NM_000218.3(KCNQ1):c.359G>A (p.Trp120Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1074347,1074347,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2445251:CGCGCCCATCGCGCCCG:C,KCNQ1,VCV001072801,1072801,NM_000218.3(KCNQ1):c.160_175del (p.Ile54fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1072801,1072801,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2777030:C:G,KCNQ1,VCV001069232,1069232,NM_000218.3(KCNQ1):c.1730C>G (p.Ser577Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1069232,1069232,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2588711:A:C,KCNQ1,VCV001067022,1067022,NM_000218.3(KCNQ1):c.1252-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1067022,1067022,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2661960:G:C,KCNQ1,VCV001066272,1066272,NM_000218.3(KCNQ1):c.1394-1G>C,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1066272,1066272,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2583463:A:C,KCNQ1,VCV001056776,1056776,NM_000218.3(KCNQ1):c.950A>C (p.Asp317Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1056776,1056776,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2585291:C:A,KCNQ1,VCV001038475,1038475,NM_000218.3(KCNQ1):c.1112C>A (p.Ala371Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1038475,1038475,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2778003:C:G,KCNQ1,VCV001037124,1037124,NM_000218.3(KCNQ1):c.1760C>G (p.Thr587Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1037124,1037124,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2768888:T:C,KCNQ1,VCV001018501,1018501,NM_000218.3(KCNQ1):c.1559T>C (p.Met520Thr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1018501,1018501,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2572081:T:A,KCNQ1,VCV001004846,1004846,NM_000218.3(KCNQ1):c.752T>A (p.Leu251Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1004846,1004846,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2587654:CTG:C,KCNQ1,VCV000992394,992394,NM_000218.3(KCNQ1):c.1214_1215del (p.Leu405fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,992394,992394,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,variation_id
+11:2776977:T:C,KCNQ1,VCV000983505,983505,NM_000218.3(KCNQ1):c.1686-9T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,983505,983505,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id
+11:2588738:AC:A,KCNQ1,VCV000983047,983047,NM_000218.3(KCNQ1):c.1278del (p.Asp426fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,983047,983047,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2570701:AC:A,KCNQ1,VCV000983022,983022,NM_000218.3(KCNQ1):c.552del (p.Lys183_Tyr184insTer),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,983022,983022,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2699443:GCACTGAGGAGCCGCCGGGAGAGTGCCGCGCTGAGGAGCCCCCGGGGAGAGTGCCGCGCTGAGGAGCCCCCAGGAGAGTGCCGCGCTGAGGAGGCCCAGGGAGGACCGCGCGGAGGAGAACCATGCTGAGGAGCCCCCGGGGAGAACAGAACCGCGGCGAGAGGCCCCCGGAGAGAACCGCGCCGAAGAACCCCCGGGGACAACCGCGCCGAAGAACCCCCGGGGAGAACCGCGCCGAAAAGCCCCGGGTGCCCCGAGGAGAACGGCGCCGAGGAGTCCCCGGGGAGAACTGCGCCGAGGAGCCCCCAGAAGAGCGCCGCGCTGAGGAGCCCCGAGGAGAACCGCGCCGAGGGGCGCGCCGGGGAGAACCACGATGACTGACGCACCGAGGAGGACCGCGCTGAGGGGCGCACCGGGAGAATCGTGCTGAGGAGCCCCGGGGAGGACCACGCTGAGAGGCACCCCGGCAGAATCGCGCTGAGGGGCGCCCTGGCAGGATCTTGCTGAGGAGCTCCCTGGAGGTCCGTGCTGAGGCGACGCGGCGACCGTTCTGCCTGGAGACTGCGGCAGCGCTCCGACTGCCCCCGCCGCTGCCGACGTGGCGACCGCCCCCCACCTGCTGATTGGGCGGCAGCAGGGGAAGGCTTGCGGCGGGCTGCTGCACGGATTGGCTGGGTGCGGAAAGTGATGTGCCGTGTCCTGTCATTGGCCGAAAGAGTCTCGTTTTGATGCCACCCGGGCTCAGATTGGCCCAGCGGGTCCAGCGCCGCATGAGGCACTGGCTGGGTGTGAGGTGGCGCGAGCCGCCGCCCTCCCTGCCCCCACCCGTCGTCCCTGAGCACCACCGGGGGCCGGGGCCAGCGCCAGCCTCAGCGTTGGCATCGCCGGGGTGAGCTGGAGACACGGGCCAGTTCTCTGCGTGATGTGTTCACCACCCCGGGGTGACCGCGTGAGGACAGCGGCCGCACCCCGACACTGCTGTGGGCCCTCGGTGTGGAGGCCTGTGGGCGTCCAGGCCACGCCCGAGACCAGCCCCTCCGCCGGCGCCGCTGCAGCGACCCTCGAACCCGGGCAAGGTCTCCACCGCCGTGGCACCGGGTGCGGGAGGCGTTTTCCCCCCTCCCAGCGGGTCCATGCAGGGGATCGGGATGTTCTGAAGCCCCCACTGCTGTGCCTGGAACACCCGTGTCTGCCGCTCACCCCTGAGGACTTGGGACCTCAGGGGGTGAGTGGCAGGGGTGGCCGGGACATGCCAGGCCACCCACCTGGCAAAGGGCAGCGCCGAGGGCGCCCCGCGCCTGCCAGCGCCCGGCCGGGCCCGCCCTGCCCACCTCCCATCCCCCATCCGGGCGTGACACTTGACCGCGTCTGCCGGCCCCTCC:G,KCNQ1,VCV000977320,977320,NM_000218.3(KCNQ1):c.1514+37364_1514+38744del,Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,977320,977320,Silver-Russell syndrome 1,Silver-Russell syndrome 1,Silver-Russell syndrome 1,variation_id
+11:2583544:CGGTAGGTGCCCCGTGGGTGCGTTTTCCCTGGCTCCTTGGACAGCTGGGGTCCTGGGGTGGCTGCACGCCCCTCCCTGTGAGCAGACCCACTTACGTTCAGAACCAAGAGGGTGCTTCCCTTCTAGAAGGTGCTATACTCCAGAGCCCCACCTGCCCTCCCTGGGGCCCTGGATGCAGACTTCCCGTTTGCAGTCCCCACTGGGGTCCTTGCAGGCAGTGTGGGAGGCAGCCTGGAGTGGCTGTGCATGGGCGCAGTGTGGGGCAGGCCTGCTCACTCAGCCCTGGGTGGGTGGGCAATGCTGCTACCACGCCCCATGGAGGCAGAATCTTGTGCCTGGAGAGGGCACTTCCACGCTGTGGCTGGGGGGGTTTTGTTCCATGTCCTTTCCAGAAACCACAGATTGTAAGGTGATGTGTCTAGTTCACAATGCCTGTATGTGGGTGTGTGTGTGTGTGTTATGTGCGTATGTGCATAATATGTGTTTGTGTTGTGTGTGTATAATTTTATGTTACCTGTATACTATGGGTATGTGTATATGTATCACATGGGTGTGTATGTACTGTATGTGTGCGTGCATACTGTGTATACATATTGTATGTGCATATGTTGTATTTAGTATGTGTGCTGTGTTGTGTGCACATGTATGCATTATACATGTATATCAGTATGTTTGCATATGTGTATTTATGTATCTGTGTCACAGGTATGTATCCTATACATCTATGTGCGTATATGTGTGTGCACATGACATGTAGACATGTGTTAGTATGTGCTTGTGTTAGTGTTTGTGTGTTAGTGTGGGTTAGTGTATGTTTTAGTGTATGTTAGTGTGTTTGTGTGTTAGTGTGTGGGTTTGTGTTTGTGTTTCTGTGTTAGTGTGTGTGTTAGTGTGCGTTAGTTTGTGTTTGTGTGTGTATGTTAGTGTATGTTAGTGTTAGTGTGTGTTAGTATGTGGGTTAGTGTGTGTGTTTGTGTGTTAGTGTGTGTGTTAGTATGTGTTTGTGTTAGTGTGTATTTGTGTGTGTTAGTGTTTGTGTGTGTTTGTGGGTTAGTGTGTGTTAGTGTGGGTTACTGTGTGTTAGTGTTTGTGTGTTAGTGTGTTTTTGTGTGTGTTAGTGTGTGGGTTAGTGTTTGTGTGTGTGTCAGTGTGTGTGTGTTAGTGTGCATATCTATTGTGTGTGTGTGTGCATCACACATGCACGTGCACCACGTGATCTCCTCTGTAGACACGGAGTTCCCTAGCTTCAGGGTGGGTCCTTTGCATCCCATCAACCGTCCTTGGGCGAGGCAGCAGCAGGGTCCTCCTCAGCTGAGGACTGCCTTCTCACTTGCGACCCCAATCCCAGTGCCCAGTATGACCCCTTCCTGGGCACATACAGATGGACCAGCCCACCTGGCCCCCAGAATGGTCCCTGGGAATGGGTTAGAGCGGCTGCAGCCCTGCCCCATGGGACTGGGCCCCTTGCTGGATAAGACCTGGGGTATAAGTTCTGCCCCCCATGCTGGCCCAGGACAGGCAGGCTGGGCCCGAGGTGGGACTTGGGGGGGCTTCCAGCACTGACCATACCTGGCCTTCCCACAACGGTGACCGGTAACCACGTCCTGAGGCTGCACCCAGCTGGCAGTGGCCTGTGTGGACGGGAGCCTCCTGTCCATTCCTTCCCAGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCTCACTCATTCAGGTGCGGTGCCTGCAAGGCCCTGGTCACTGTCATTTTGGTCACTGTTATTGTTGCATCCAGCCCTCACGGCCACCTGTCAGAACCATCATTGGCCCCTGCATCAGCTTGGCTGGCCTGTGGGGCATACTCTGCTTGTGGAAGCCTTGGCTGCTGTGGTGATGGGGTGAGCACGGGGCATTGGAGCCTGTCTTCCTCCAAAGCTGCTCCCATCAAGGGCCATGCCCTGTGGGCTGGAGAGGAGGCACGGCCGTGGCCATGCCAGGAGTGGACGTGGTTGGCTCTGAGGCTCCCTTGTGCTCCCATTCTCCCTCCCACTGCACAACAACCTGAGGGCTGAGTCTGGGAGTGGGGTGGCCAGGTGATTGTCCCCAAGGGAGGTAGGACCCAGCTGTGCAGTTGGTGCCTTCTGGAGGGCCTGGCATCCCTCAGGGCTCGGGAGGCCCTGGTGCCTGGAGGTGAGGACTGGCGATGGATGGCATGGGCCTCCCTCTGGGCTCACAAGGCCAGTGGGCTGGGAAAGGCAGAGCCCTGGAGCAACAGGGGCAGGAAGGTTCTGGAGGCAGGTGGGGAGGCAGGCAGTACCAAGCTCTGGGATGCTGGGCTCTGGCTCTGTCACTCCAGGCTCTCCAGGACCCACCAGAGAATGGGACTGCTCTGTTAACGTAAGCAAGGACTTGGCACAGGAGTCACTTGAGAATTGCGTCCCTGTGGGTCTCTCTTGTTGGCCACTGCAGGGCCAGGGCTGCCCTGAGGAACAGCCGCTGAGGTGCCCAGAGGGTGGGCGTTGCCGGGTTGAATGACAAGTGCCCACTGGGGATAGGGCCTCCGCCCAGTGCAGTGGCTGGGAGCACAGTGTCAGTTCCTCTGGGCACACTGGGCCTGATGTCCCCCAGGAAGGCCCAGGACCTGGGCAGCCCCCGCTGGCTGGCGTCCCCCCTGCAGTCCTCGTGAGCTCGCTGCCCCAGGCAAGGCCCAGGCTGTCAGGGGCCAGTCGCAGTCCTCCTGCACTCCTGGCTCAGCCATCGGGGGGGCTGTGTGCTCCCACCCTTAGCCTGGTTTTATGGCTTCACAGTTTCTCCTTCCTGGGAGACCATAAATCAGGCCCGTAAACCCGCCTTGGTCCCAGCATGAGCATGCTGGCCGCCCACGCCTGGCAGGGGACCACATTGGATTCCTGGTCCCACTCCCTGGGAACCACAGGTCCTTTGAAAGGGGTTCCCTCGGAAGCTGCACACACTGTGGGAGGACTGGAGTAGGGGCCCCAGGTGGCAGGTGTGCACAGGAGCAGGGCAGGGGTCATGGGGTTTGCCAGGGTTGGGGGACCACGTGGAGTGCTCAGCCTGTGTGTGTAACACTCGGGCCTTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCA:C,KCNQ1,VCV000977170,977170,NM_000218.3(KCNQ1):c.1032+1_1129-1del,Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,977170,977170,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2587646:GC:G,KCNQ1,VCV000966649,966649,NM_000218.3(KCNQ1):c.1207del (p.His403fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,966649,966649,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2583477:A:C,KCNQ1,VCV000960695,960695,NM_000218.3(KCNQ1):c.964A>C (p.Thr322Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,960695,960695,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2777033:G:A,KCNQ1,VCV000956049,956049,NM_000218.3(KCNQ1):c.1732+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,956049,956049,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2583547:T:C,KCNQ1,VCV000939724,939724,NM_000218.3(KCNQ1):c.1032+2T>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,939724,939724,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,variation_id
+11:2588718:GAAAA:G,KCNQ1,VCV000930315,930315,NM_000218.3(KCNQ1):c.1262_1265del (p.Lys421fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,930315,930315,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2662006:T:TGAGAACCAACAGCTTCGCC,KCNQ1,VCV000926196,926196,NM_000218.3(KCNQ1):c.1443_1461dup (p.Asp488fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,926196,926196,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+11:2588790:CA:C,KCNQ1,VCV000925351,925351,NM_000218.3(KCNQ1):c.1330del (p.Thr444fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,925351,925351,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+11:2588815:CG:C,KCNQ1,VCV000922607,922607,NM_000218.3(KCNQ1):c.1356del (p.Leu453fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,922607,922607,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id
+11:2585222:GCTCGGGGTTTG:CA,KCNQ1,VCV000919956,919956,NM_000218.3(KCNQ1):c.1043_1054delinsCA (p.Gly348fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,919956,919956,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+11:2572105:G:C,KCNQ1,VCV000869436,869436,NM_000218.3(KCNQ1):c.776G>C (p.Arg259Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,869436,869436,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2585288:C:A,KCNQ1,VCV000869435,869435,NM_000218.3(KCNQ1):c.1109C>A (p.Ala370Glu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,869435,869435,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2570626:AG:A,KCNQ1,VCV000869434,869434,NM_000218.2(KCNQ1):c.478_478del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,869434,869434,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2768869:ATTAAGGTCAT:A,KCNQ1,VCV000869433,869433,NM_000218.3(KCNQ1):c.1542_1551del (p.Lys515fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,869433,869433,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2572874:TCCTGGG:T,KCNQ1,VCV000861314,861314,NM_000218.3(KCNQ1):c.813_818del (p.Gly272_Leu273del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,861314,861314,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2572072:G:A,KCNQ1,VCV000855976,855976,NM_000218.3(KCNQ1):c.743G>A (p.Trp248Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,855976,855976,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2587671:CA:C,KCNQ1,VCV000844409,844409,NM_000218.3(KCNQ1):c.1233del (p.Lys411fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,844409,844409,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2572107:C:T,KCNQ1,VCV000842276,842276,NM_000218.3(KCNQ1):c.778C>T (p.Gln260Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,842276,842276,Long QT syndrome|KCNQ1-related disorder,Long QT syndrome|KCNQ1-related disorder,Long QT syndrome|KCNQ1-related disorder,variation_id
+11:2570712:TGG:T,KCNQ1,VCV000817323,817323,NM_000218.3(KCNQ1):c.566_567del (p.Gly189fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,817323,817323,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2570662:AC:A,KCNQ1,VCV000817016,817016,NM_000218.3(KCNQ1):c.513del (p.Glu170_Tyr171insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,817016,817016,,,,unmatched
+11:2587693:G:A,KCNQ1,VCV000812675,812675,NM_000218.3(KCNQ1):c.1251+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,812675,812675,Long QT syndrome 1|Long QT syndrome,Long QT syndrome 1|Long QT syndrome,Long QT syndrome 1|Long QT syndrome,variation_id
+11:2445471:T:A,KCNQ1,VCV000684802,684802,NM_000218.3(KCNQ1):c.373T>A (p.Tyr125Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,684802,684802,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2528008:T:C,KCNQ1,VCV000684787,684787,NM_000218.3(KCNQ1):c.467T>C (p.Leu156Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,684787,684787,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2776056:T:G,KCNQ1,VCV000667007,667007,NM_000218.3(KCNQ1):c.1685+2T>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,667007,667007,"Congenital long QT syndrome|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1","Congenital long QT syndrome|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1","Congenital long QT syndrome|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1",variation_id
+11:2572055:C:A,KCNQ1,VCV000665471,665471,NM_000218.3(KCNQ1):c.726C>A (p.Asp242Glu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,665471,665471,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,variation_id
+11:2583486:G:C,KCNQ1,VCV000660595,660595,NM_000218.3(KCNQ1):c.973G>C (p.Gly325Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,660595,660595,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2571404:G:A,KCNQ1,VCV000651458,651458,NM_000218.3(KCNQ1):c.683+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,651458,651458,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,variation_id
+11:2583550:G:T,KCNQ1,VCV000641597,641597,NM_000218.3(KCNQ1):c.1032+5G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,641597,641597,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2585305:C:T,KCNQ1,VCV000620198,620198,NM_000218.3(KCNQ1):c.1126C>T (p.Gln376Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,620198,620198,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,variation_id
+11:2572846:G:T,KCNQ1,VCV000620103,620103,NM_000218.3(KCNQ1):c.781G>T (p.Glu261Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,620103,620103,,,,unmatched
+11:2768851:GA:G,KCNQ1,VCV000587644,587644,NM_000218.3(KCNQ1):c.1524del (p.Glu508fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,587644,587644,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2583433:A:G,KCNQ1,VCV000582668,582668,NM_000218.3(KCNQ1):c.922-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,582668,582668,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2583442:TCAC:T,KCNQ1,VCV000581345,581345,NM_000218.3(KCNQ1):c.932CCA[1] (p.Thr312del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,581345,581345,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2587579:A:T,KCNQ1,VCV000581004,581004,NM_000218.3(KCNQ1):c.1138A>T (p.Arg380Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,581004,581004,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2768841:CAG:C,KCNQ1,VCV000576205,576205,NM_000218.3(KCNQ1):c.1515-2_1515-1del,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,576205,576205,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2571324:G:C,KCNQ1,VCV000573523,573523,NM_000218.3(KCNQ1):c.605-1G>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,573523,573523,"Long QT syndrome|Short QT syndrome type 2;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Long QT syndrome 1","Long QT syndrome|Short QT syndrome type 2;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Long QT syndrome 1","Long QT syndrome|Short QT syndrome type 2;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Long QT syndrome 1",variation_id
+11:2572061:GGGAGGCACCT:G,KCNQ1,VCV000570590,570590,NM_000218.3(KCNQ1):c.739_748del (p.Thr247fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,570590,570590,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2777002:G:C,KCNQ1,VCV000570319,570319,NM_000218.3(KCNQ1):c.1702G>C (p.Gly568Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,570319,570319,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2583545:G:T,KCNQ1,VCV000560649,560649,NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,560649,560649,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,variation_id
+11:2572850:T:C,KCNQ1,VCV000560359,560359,NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,560359,560359,Prolonged QT interval|Long QT syndrome 1|Long QT syndrome|Cardiovascular phenotype,Prolonged QT interval|Long QT syndrome 1|Long QT syndrome|Cardiovascular phenotype,Prolonged QT interval|Long QT syndrome 1|Long QT syndrome|Cardiovascular phenotype,variation_id
+11:2588717:AG:A,KCNQ1,VCV000526930,526930,NM_000218.3(KCNQ1):c.1257del (p.Lys422fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,526930,526930,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2445192:A:T,KCNQ1,VCV000523769,523769,NM_000218.3(KCNQ1):c.94A>T (p.Lys32Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,523769,523769,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2583447:A:T,KCNQ1,VCV000522585,522585,NM_000218.3(KCNQ1):c.934A>T (p.Thr312Ser),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,522585,522585,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2572059:C:T,KCNQ1,VCV000519369,519369,NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519369,519369,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,variation_id
+11:2570659:AG:A,KCNQ1,VCV000519357,519357,NM_000218.3(KCNQ1):c.510del (p.Glu170fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519357,519357,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+11:2777034:TG:T,KCNQ1,VCV000517664,517664,NM_000218.3(KCNQ1):c.1732+5del,Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,517664,517664,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id
+11:2661990:AGCAT:A,KCNQ1,VCV000496690,496690,NM_000218.3(KCNQ1):c.1426_1429del (p.Met476fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,496690,496690,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id
+11:2445473:C:A,KCNQ1,VCV000489011,489011,NM_000218.3(KCNQ1):c.375C>A (p.Tyr125Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,489011,489011,,,,unmatched
+11:2572899:C:G,KCNQ1,VCV000456869,456869,NM_000218.3(KCNQ1):c.834C>G (p.Tyr278Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456869,456869,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2583456:T:C,KCNQ1,VCV000449302,449302,NM_000218.3(KCNQ1):c.943T>C (p.Tyr315His),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,449302,449302,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2571373:A:AG,KCNQ1,VCV000449283,449283,NM_000218.3(KCNQ1):c.657dup (p.Gln220fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,449283,449283,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2775977:C:CGATGT,KCNQ1,VCV000448975,448975,NM_000218.3(KCNQ1):c.1610_1614dup (p.Arg539fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,448975,448975,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2572060:AGG:A,KCNQ1,VCV000438610,438610,NM_000218.3(KCNQ1):c.733_734del (p.Gly245fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,438610,438610,Jervell and Lange-Nielsen syndrome 1|Abnormality of the cardiovascular system,Jervell and Lange-Nielsen syndrome 1|Abnormality of the cardiovascular system,Jervell and Lange-Nielsen syndrome 1|Abnormality of the cardiovascular system,variation_id
+11:2570706:G:T,KCNQ1,VCV000432149,432149,NM_000218.3(KCNQ1):c.556G>T (p.Gly186Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,432149,432149,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+11:2588785:CA:C,KCNQ1,VCV000431370,431370,NM_000218.3(KCNQ1):c.1325del (p.His442fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,431370,431370,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+11:2768860:CG:C,KCNQ1,VCV000430941,430941,NM_000218.3(KCNQ1):c.1534del (p.Ala512fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,430941,430941,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id
+11:2528004:ACT:A,KCNQ1,VCV000421737,421737,NM_000218.3(KCNQ1):c.468_469del (p.Phe157fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,421737,421737,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2445231:C:CCGGCGGG,KCNQ1,VCV000420658,420658,NM_000218.3(KCNQ1):c.139_145dup (p.Ala49fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,420658,420658,,,,unmatched
+11:2571340:TG:T,KCNQ1,VCV000420529,420529,NM_000218.3(KCNQ1):c.622del (p.Ala208fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,420529,420529,,,,unmatched
+11:2445478:T:TCG,KCNQ1,VCV000419579,419579,NM_000218.3(KCNQ1):c.382_383dup (p.Val129fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,419579,419579,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id
+11:2587616:G:A,KCNQ1,VCV000405268,405268,NM_000218.3(KCNQ1):c.1175G>A (p.Trp392Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405268,405268,Long QT syndrome||Jervell and Lange-Nielsen syndrome,Long QT syndrome||Jervell and Lange-Nielsen syndrome,Long QT syndrome||Jervell and Lange-Nielsen syndrome,variation_id
+11:2778025:AG:A,KCNQ1,VCV000405264,405264,NM_000218.3(KCNQ1):c.1783del (p.Arg594_Val595insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405264,405264,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2572912:G:C,KCNQ1,VCV000405263,405263,NM_000218.3(KCNQ1):c.847G>C (p.Ala283Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405263,405263,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2572068:ACCTGGAGGCT:A,KCNQ1,VCV000405262,405262,NM_000218.3(KCNQ1):c.745_754del (p.Arg249fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,405262,405262,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,variation_id
+11:2585225:C:A,KCNQ1,VCV000405261,405261,NM_000218.3(KCNQ1):c.1046C>A (p.Ser349Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,405261,405261,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2572050:G:T,KCNQ1,VCV000405255,405255,NM_000218.3(KCNQ1):c.721G>T (p.Val241Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,405255,405255,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2572883:T:C,KCNQ1,VCV000405254,405254,NM_000218.3(KCNQ1):c.818T>C (p.Leu273Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405254,405254,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2572846:GA:TT,KCNQ1,VCV000405253,405253,NM_000218.3(KCNQ1):c.781_782delinsTT (p.Glu261Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,MNV_or_substitution,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405253,405253,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+11:2572908:C:A,KCNQ1,VCV000379504,379504,NM_000218.3(KCNQ1):c.843C>A (p.Tyr281Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,379504,379504,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id
+11:2583434:G:A,KCNQ1,VCV000372568,372568,NM_000218.3(KCNQ1):c.922-1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,372568,372568,,,,unmatched
+7:150958401:CCGGGGCGCCCGCGCCGCCCGCG:C,KCNH2,VCV004804554,4804554,NM_000238.4(KCNH2):c.552_573del (p.Ala185fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4804554,4804554,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150957304:TCA:T,KCNH2,VCV004763986,4763986,NM_000238.4(KCNH2):c.1113_1114del (p.Lys373fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4763986,4763986,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150974776:TG:T,KCNH2,VCV004758983,4758983,NM_000238.4(KCNH2):c.241del (p.Gln81fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4758983,4758983,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+7:150952789:CA:C,KCNH2,VCV004758579,4758579,NM_000238.4(KCNH2):c.1192del (p.Trp398fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4758579,4758579,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+7:150947810:C:CCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCT,KCNH2,VCV004757905,4757905,NM_000238.4(KCNH2):c.2699_2760dup (p.Gly921fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4757905,4757905,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+7:150974714:CT:C,KCNH2,VCV004733133,4733133,NM_000238.4(KCNH2):c.303del (p.Asp102fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4733133,4733133,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150948451:C:CGT,KCNH2,VCV004728357,4728357,NM_000238.4(KCNH2):c.2683_2684dup (p.Asp896fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4728357,4728357,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150974927:TG:T,KCNH2,VCV004727073,4727073,NM_000238.4(KCNH2):c.90del (p.Ile31fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4727073,4727073,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950996:GGGGATCT:G,KCNH2,VCV004726900,4726900,NM_000238.4(KCNH2):c.2063_2069del (p.Gln688fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4726900,4726900,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951619:G:A,KCNH2,VCV004724072,4724072,NM_000238.4(KCNH2):c.1774C>T (p.Gln592Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4724072,4724072,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947659:TC:T,KCNH2,VCV004722731,4722731,NM_000238.4(KCNH2):c.2911del (p.Glu971fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4722731,4722731,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150948935:AG:A,KCNH2,VCV004721201,4721201,NM_000238.4(KCNH2):c.2512del (p.Leu838fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4721201,4721201,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150958060:G:GGT,KCNH2,VCV004720344,4720344,NM_000238.4(KCNH2):c.913_914dup (p.Gly306fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4720344,4720344,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950985:C:CT,KCNH2,VCV004720342,4720342,NM_000238.4(KCNH2):c.2080_2081insA (p.Arg694fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4720342,4720342,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150948873:TG:T,KCNH2,VCV004719590,4719590,NM_000238.4(KCNH2):c.2574del (p.Thr859fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4719590,4719590,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951653:GT:G,KCNH2,VCV004715748,4715748,NM_000238.4(KCNH2):c.1739del (p.Asp580fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4715748,4715748,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950398:CACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCA:C,KCNH2,VCV004715444,4715444,NM_000238.4(KCNH2):c.2146-50_2167del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4715444,4715444,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947816:T:TC,KCNH2,VCV004714508,4714508,NM_000238.4(KCNH2):c.2754_2755insG (p.Ser919fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4714508,4714508,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947516:T:C,KCNH2,VCV004710895,4710895,NM_000238.4(KCNH2):c.2966-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4710895,4710895,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947452:G:A,KCNH2,VCV004710749,4710749,NM_000238.4(KCNH2):c.3028C>T (p.Gln1010Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4710749,4710749,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951022:C:A,KCNH2,VCV004709557,4709557,NM_000238.4(KCNH2):c.2044G>T (p.Glu682Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4709557,4709557,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950393:G:A,KCNH2,VCV004709556,4709556,NM_000238.4(KCNH2):c.2173C>T (p.Gln725Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4709556,4709556,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150974868:CTCGCAGAAGCCGTCG:C,KCNH2,VCV004686179,4686179,NM_000238.4(KCNH2):c.135_149del (p.Asn45_Glu50delinsLys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4686179,4686179,,,,unmatched
+7:150974766:C:CTGCGCGATCTGCGCGGCAGCGCGGCGCTGCG,KCNH2,VCV004681926,4681926,NM_000238.4(KCNH2):c.221_251dup (p.Gln84fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4681926,4681926,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947386:GACCC:CCG,KCNH2,VCV004614356,4614356,NM_000238.4(KCNH2):c.3090_3094delinsCGG (p.Arg1032fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4614356,4614356,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150958125:ACGAGGCGCGGCGCACG:A,KCNH2,VCV004614351,4614351,NM_000238.4(KCNH2):c.834_849del (p.Val279fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4614351,4614351,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id
+7:150977911:CAT:C,KCNH2,VCV004614346,4614346,NM_000238.4(KCNH2):c.1_2del (p.Met1fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4614346,4614346,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150950421:CTGGGGGCAGGG:C,KCNH2,VCV004614344,4614344,NM_000238.4(KCNH2):c.2146-12_2146-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4614344,4614344,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150958115:T:TCGTCGGC,KCNH2,VCV004529668,4529668,NM_000238.4(KCNH2):c.853_859dup (p.Asp287fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4529668,4529668,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947398:A:AGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATC,KCNH2,VCV004281328,4281328,NM_000238.4(KCNH2):c.3041_3081dup (p.Ser1028fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4281328,4281328,,,,unmatched
+7:150951686:G:T,KCNH2,VCV004280330,4280330,NM_000238.4(KCNH2):c.1707C>A (p.Tyr569Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4280330,4280330,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150952518:G:GCGGC,KCNH2,VCV004090314,4090314,NM_000238.4(KCNH2):c.1460_1463dup (p.Ile489fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4090314,4090314,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150951522:C:A,KCNH2,VCV004074744,4074744,NM_000238.4(KCNH2):c.1871G>T (p.Ser624Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4074744,4074744,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150974883:G:GGAC,KCNH2,VCV004074721,4074721,NM_000238.4(KCNH2):c.134_135insGTC (p.Asn45delinsLysSer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4074721,4074721,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150949002:CA:C,KCNH2,VCV004071954,4071954,NM_000238.4(KCNH2):c.2445del (p.Gly816fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4071954,4071954,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150948455:CGCCT:C,KCNH2,VCV003911914,3911914,NM_000238.4(KCNH2):c.2677_2680del (p.Arg893fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3911914,3911914,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+7:150950971:C:A,KCNH2,VCV003911046,3911046,NM_000238.4(KCNH2):c.2095G>T (p.Glu699Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3911046,3911046,,,,unmatched
+7:150951627:A:G,KCNH2,VCV003900638,3900638,NM_000238.4(KCNH2):c.1766T>C (p.Leu589Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3900638,3900638,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150950199:G:C,KCNH2,VCV003895127,3895127,NM_000238.4(KCNH2):c.2367C>G (p.Ile789Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3895127,3895127,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150948472:CTTGCGCTTGCG:C,KCNH2,VCV003895051,3895051,NM_000238.4(KCNH2):c.2653_2663del (p.Arg885fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3895051,3895051,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150977847:C:T,KCNH2,VCV003895040,3895040,NM_000238.4(KCNH2):c.67G>A (p.Glu23Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3895040,3895040,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150952746:C:T,KCNH2,VCV003894984,3894984,NM_000238.4(KCNH2):c.1236G>A (p.Trp412Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3894984,3894984,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150948465:AG:A,KCNH2,VCV003894466,3894466,NM_000238.4(KCNH2):c.2670del (p.Phe891fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894466,3894466,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id
+7:150947792:ACGGCCCCCCCGGC:A,KCNH2,VCV003893973,3893973,NM_000238.4(KCNH2):c.2766_2778del (p.Pro923fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3893973,3893973,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+7:150958239:C:CGG,KCNH2,VCV003862757,3862757,NM_000238.4(KCNH2):c.734_735dup (p.Gly246fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3862757,3862757,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150947802:C:CG,KCNH2,VCV003775096,3775096,NM_000238.4(KCNH2):c.2768dup (p.Pro926fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3775096,3775096,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150947833:GC:G,KCNH2,VCV003773804,3773804,NM_000238.4(KCNH2):c.2737del (p.Ala913fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3773804,3773804,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947606:CT:C,KCNH2,VCV003764662,3764662,NM_000238.4(KCNH2):c.2964del (p.Gly989fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3764662,3764662,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150977853:T:TG,KCNH2,VCV003728256,3728256,NM_000238.4(KCNH2):c.60dup (p.Lys21fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3728256,3728256,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150974851:CG:C,KCNH2,VCV003724054,3724054,NM_000238.4(KCNH2):c.166del (p.Arg56fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3724054,3724054,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150948466:G:GGACAACTT,KCNH2,VCV003721525,3721525,NM_000238.4(KCNH2):c.2662_2669dup (p.Phe891fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3721525,3721525,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150974776:T:TGCGCGGCA,KCNH2,VCV003720793,3720793,NM_000238.4(KCNH2):c.234_241dup (p.Gln81fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3720793,3720793,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951583:C:A,KCNH2,VCV003720791,3720791,NM_000238.4(KCNH2):c.1810G>T (p.Gly604Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3720791,3720791,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950211:GC:G,KCNH2,VCV003720787,3720787,NM_000238.4(KCNH2):c.2354del (p.Gly785fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3720787,3720787,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947804:GCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGC:G,KCNH2,VCV003712259,3712259,NM_000238.4(KCNH2):c.2732_2766del (p.Gly911fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3712259,3712259,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150952480:T:G,KCNH2,VCV003657287,3657287,NM_000238.4(KCNH2):c.1502A>C (p.Asp501Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3657287,3657287,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150974794:TGC:T,KCNH2,VCV003655448,3655448,NM_000238.4(KCNH2):c.222_223del (p.Gln75fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3655448,3655448,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951069:AG:A,KCNH2,VCV003651645,3651645,NM_000238.4(KCNH2):c.1996del (p.Leu666fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3651645,3651645,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150958119:CG:C,KCNH2,VCV003651113,3651113,NM_000238.4(KCNH2):c.855del (p.Asp286fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3651113,3651113,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950175:GGCCACGACGACGTC:G,KCNH2,VCV003602222,3602222,NM_000238.4(KCNH2):c.2377_2390del (p.Asp793fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3602222,3602222,,,,unmatched
+7:150974842:A:G,KCNH2,VCV003544416,3544416,NM_000238.4(KCNH2):c.176T>C (p.Val59Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3544416,3544416,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150951076:G:A,KCNH2,VCV003386898,3386898,NM_000238.4(KCNH2):c.1990C>T (p.Gln664Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3386898,3386898,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150974852:G:A,KCNH2,VCV003383250,3383250,NM_000238.4(KCNH2):c.166C>T (p.Arg56Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3383250,3383250,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150951102:A:T,KCNH2,VCV003382540,3382540,NM_000238.4(KCNH2):c.1964T>A (p.Ile655Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3382540,3382540,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150951462:A:AC,KCNH2,VCV003376960,3376960,NM_000238.4(KCNH2):c.1930dup (p.Val644fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3376960,3376960,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150947807:GGCCCCGGCTACTCGGCCCT:G,KCNH2,VCV003376939,3376939,NM_000238.4(KCNH2):c.2745_2763del (p.Pro917fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3376939,3376939,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150951801:C:G,KCNH2,VCV003370336,3370336,NM_000238.4(KCNH2):c.1592G>C (p.Arg531Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3370336,3370336,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150974774:T:TCTGCGCGG,KCNH2,VCV003341931,3341931,NM_000238.4(KCNH2):c.236_243dup (p.Ile82fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3341931,3341931,,,,unmatched
+7:150952717:G:T,KCNH2,VCV003338328,3338328,NM_000238.4(KCNH2):c.1265C>A (p.Ala422Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3338328,3338328,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947400:AG:A,KCNH2,VCV003255227,3255227,NM_000238.4(KCNH2):c.3079del (p.Leu1027fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3255227,3255227,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150951576:GAGGGGCCGCCCAG:ATACATACTT,KCNH2,VCV003254651,3254651,NM_000238.4(KCNH2):c.1804_1817delinsAAGTATGTAT (p.Leu602fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3254651,3254651,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150958109:TCGATGTCGTCGGCCGA:T,KCNH2,VCV003254536,3254536,NM_000238.4(KCNH2):c.850_865del (p.Ser284fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3254536,3254536,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150950944:TGTAGG:T,KCNH2,VCV003252026,3252026,NM_000238.4(KCNH2):c.2117_2121del (p.Ser706fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3252026,3252026,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150977842:G:GGC,KCNH2,VCV003236854,3236854,NM_000238.4(KCNH2):c.71_72insGC (p.Gln25fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3236854,3236854,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947367:ACGTCGCCC:A,KCNH2,VCV003230731,3230731,NM_000238.4(KCNH2):c.3105_3112del (p.Asp1037fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3230731,3230731,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150974721:G:C,KCNH2,VCV003230730,3230730,NM_000238.4(KCNH2):c.297C>G (p.Tyr99Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3230730,3230730,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id
+7:150950843:TGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGG:T,KCNH2,VCV003230725,3230725,NM_000238.4(KCNH2):c.2013_2145+77del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3230725,3230725,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150952852:A:AC,KCNH2,VCV003076042,3076042,NC_000007.14:g.150952854dup,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3076042,3076042,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id
+7:150952817:TG:T,KCNH2,VCV003076025,3076025,NM_000238.4(KCNH2):c.1164del (p.Glu387_Tyr388insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3076025,3076025,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id
+7:150947857:A:ACCTC,KCNH2,VCV003075307,3075307,NM_000238.4(KCNH2):c.2710_2713dup (p.Val905fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3075307,3075307,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950920:CCG:C,KCNH2,VCV003074111,3074111,NM_000238.4(KCNH2):c.2144_2145del (p.Ala715fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3074111,3074111,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951479:CT:C,KCNH2,VCV003068475,3068475,NM_000238.4(KCNH2):c.1913del (p.Lys638fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3068475,3068475,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150951530:G:T,KCNH2,VCV003066169,3066169,NM_000238.4(KCNH2):c.1863C>A (p.Ser621Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3066169,3066169,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150951730:A:G,KCNH2,VCV003064233,3064233,NM_000238.4(KCNH2):c.1663T>C (p.Cys555Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3064233,3064233,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150958303:CCCTG:C,KCNH2,VCV002918473,2918473,NM_000238.4(KCNH2):c.668_671del (p.Ala223fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2918473,2918473,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150946999:G:A,KCNH2,VCV002906537,2906537,NM_000238.4(KCNH2):c.3208C>T (p.Gln1070Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2906537,2906537,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150974750:C:A,KCNH2,VCV002880265,2880265,NM_000238.4(KCNH2):c.268G>T (p.Glu90Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2880265,2880265,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150958139:AC:A,KCNH2,VCV002858211,2858211,NM_000238.4(KCNH2):c.835del (p.Val279fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2858211,2858211,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150946925:C:CA,KCNH2,VCV002832789,2832789,NM_000238.4(KCNH2):c.3281dup (p.Leu1095fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2832789,2832789,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150948906:ACTCAGGGT:A,KCNH2,VCV002821739,2821739,NM_000238.4(KCNH2):c.2534_2541del (p.Tyr845fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2821739,2821739,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150952722:G:C,KCNH2,VCV002814358,2814358,NM_000238.4(KCNH2):c.1260C>G (p.Tyr420Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2814358,2814358,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150957440:AG:A,KCNH2,VCV002813131,2813131,NM_000238.4(KCNH2):c.978del (p.Tyr327fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2813131,2813131,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150958217:G:GC,KCNH2,VCV002790199,2790199,NM_000238.4(KCNH2):c.757dup (p.Ala253fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2790199,2790199,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150948995:G:C,KCNH2,VCV002773436,2773436,NM_000238.4(KCNH2):c.2453C>G (p.Ser818Trp),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2773436,2773436,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id
+7:150947795:GCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCC:G,KCNH2,VCV002773424,2773424,NM_000238.4(KCNH2):c.2742_2775del (p.Ala915fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2773424,2773424,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+7:150952632:C:CTGGCAGGCGTAGCCACACTCGG,KCNH2,VCV002772506,2772506,NM_000238.4(KCNH2):c.1328_1349dup (p.Gln450fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2772506,2772506,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950146:GTGCCCGCCCCCCACCCCATACC:G,KCNH2,VCV002770983,2770983,NM_000238.4(KCNH2):c.2398_2398+21del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2770983,2770983,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947384:C:CCG,KCNH2,VCV002763043,2763043,NM_000238.4(KCNH2):c.3094_3095dup (p.Arg1033fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2763043,2763043,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150952800:GC:G,KCNH2,VCV002760013,2760013,NM_000238.4(KCNH2):c.1181del (p.Arg394fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2760013,2760013,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951768:TA:T,KCNH2,VCV002758800,2758800,NM_000238.4(KCNH2):c.1624del (p.Tyr542fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2758800,2758800,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150946808:AGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCT:A,KCNH2,VCV002758297,2758297,NM_000238.4(KCNH2):c.3194_3330+68del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2758297,2758297,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150958207:G:GA,KCNH2,VCV002754986,2754986,NM_000238.4(KCNH2):c.767dup (p.Asn257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2754986,2754986,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150958315:GT:G,KCNH2,VCV002753718,2753718,NM_000238.4(KCNH2):c.659del (p.Asn220fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2753718,2753718,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150948483:G:GTTGCC,KCNH2,VCV002748964,2748964,NM_000238.4(KCNH2):c.2648_2652dup (p.Arg885fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2748964,2748964,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951767:G:T,KCNH2,VCV002748626,2748626,NM_000238.4(KCNH2):c.1626C>A (p.Tyr542Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2748626,2748626,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150974846:C:A,KCNH2,VCV002746100,2746100,NM_000238.4(KCNH2):c.172G>T (p.Glu58Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2746100,2746100,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947378:G:GGGCC,KCNH2,VCV002745936,2745936,NM_000238.4(KCNH2):c.3098_3101dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2745936,2745936,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947055:C:G,KCNH2,VCV002744101,2744101,NM_000238.4(KCNH2):c.3153-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2744101,2744101,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951515:GC:G,KCNH2,VCV002735100,2735100,NM_000238.4(KCNH2):c.1877del (p.Gly626fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2735100,2735100,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951109:CA:C,KCNH2,VCV002735098,2735098,NM_000238.4(KCNH2):c.1956del (p.Met651_Tyr652insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2735098,2735098,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150949051:T:C,KCNH2,VCV002735096,2735096,NM_000238.4(KCNH2):c.2399-2A>G,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2735096,2735096,Long QT syndrome||Long QT syndrome 2,Long QT syndrome||Long QT syndrome 2,Long QT syndrome||Long QT syndrome 2,variation_id
+7:150958121:GCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTT:ACGCCTCGGGCTC,KCNH2,VCV002727880,2727880,NM_000238.4(KCNH2):c.769_854delinsGAGCCCGAGGCGT (p.Asn257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2727880,2727880,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950402:CAG:C,KCNH2,VCV002725070,2725070,NM_000238.4(KCNH2):c.2162_2163del (p.Pro721fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2725070,2725070,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950409:G:GC,KCNH2,VCV002698764,2698764,NM_000238.4(KCNH2):c.2156dup (p.Phe720fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2698764,2698764,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947804:GCCGGCCCCGGCTACTCGGC:G,KCNH2,VCV002694065,2694065,NM_000238.4(KCNH2):c.2748_2766del (p.Pro917fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2694065,2694065,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150946949:A:AC,KCNH2,VCV002687478,2687478,NM_000238.4(KCNH2):c.3257_3258insG (p.Gly1087fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2687478,2687478,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150951639:C:T,KCNH2,VCV002665002,2665002,NM_000238.4(KCNH2):c.1754G>A (p.Trp585Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2665002,2665002,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150947853:CG:C,KCNH2,VCV002664629,2664629,NM_000238.4(KCNH2):c.2717del (p.Ser906fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2664629,2664629,,,,unmatched
+7:150947683:G:GGCCT,KCNH2,VCV002637626,2637626,NM_000238.4(KCNH2):c.2884_2887dup (p.Pro963fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2637626,2637626,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id
+7:150957325:TC:T,KCNH2,VCV002579645,2579645,NM_000238.4(KCNH2):c.1093del (p.Glu365fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2579645,2579645,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150948983:A:G,KCNH2,VCV002575020,2575020,NM_000238.4(KCNH2):c.2465T>C (p.Val822Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575020,2575020,,,,unmatched
+7:150951699:G:C,KCNH2,VCV002574032,2574032,NM_000238.4(KCNH2):c.1694C>G (p.Ala565Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2574032,2574032,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947360:GCTCTCCACGTCGCCCCG:CCGCCGACCC,KCNH2,VCV002571299,2571299,NM_000238.4(KCNH2):c.3103_3120delinsGGGTCGGCGG (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2571299,2571299,,,,unmatched
+7:150947643:GT:G,KCNH2,VCV002567296,2567296,NM_000238.4(KCNH2):c.2927del (p.Asp976fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2567296,2567296,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150951447:C:G,KCNH2,VCV002452993,2452993,NM_000238.4(KCNH2):c.1945+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2452993,2452993,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150957427:CT:C,KCNH2,VCV002442075,2442075,NM_000238.4(KCNH2):c.991del (p.Ser331fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2442075,2442075,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id
+7:150946928:CGG:C,KCNH2,VCV002429379,2429379,NM_000238.4(KCNH2):c.3277_3278del (p.Pro1093fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2429379,2429379,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947713:A:AG,KCNH2,VCV002227986,2227986,NM_000238.4(KCNH2):c.2857dup (p.Leu953fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2227986,2227986,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id
+7:150951459:A:C,KCNH2,VCV002136626,2136626,NM_000238.4(KCNH2):c.1934T>G (p.Met645Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2136626,2136626,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947034:G:GC,KCNH2,VCV002136623,2136623,NM_000238.4(KCNH2):c.3172dup (p.Ala1058fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2136623,2136623,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150952634:GGCAGGCGTAGCCACACTCGGTA:G,KCNH2,VCV002133333,2133333,NM_000238.4(KCNH2):c.1326_1347del (p.Thr443fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2133333,2133333,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150945474:G:GC,KCNH2,VCV002130516,2130516,NM_000238.4(KCNH2):c.3370dup (p.Ala1124fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2130516,2130516,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150948544:C:G,KCNH2,VCV002128179,2128179,NM_000238.4(KCNH2):c.2593-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2128179,2128179,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951045:TGGTA:T,KCNH2,VCV002125899,2125899,NM_000238.4(KCNH2):c.2017_2020del (p.Tyr673fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2125899,2125899,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951488:G:T,KCNH2,VCV002121024,2121024,NM_000238.4(KCNH2):c.1905C>A (p.Asn635Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2121024,2121024,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951710:CGCGATGA:C,KCNH2,VCV002120904,2120904,NM_000238.4(KCNH2):c.1676_1682del (p.Leu559fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2120904,2120904,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951812:CG:C,KCNH2,VCV002095758,2095758,NM_000238.4(KCNH2):c.1580del (p.Ala527fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2095758,2095758,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951469:TGGA:T,KCNH2,VCV002088283,2088283,NM_000238.4(KCNH2):c.1921_1923del (p.Ser641del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2088283,2088283,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947872:T:TC,KCNH2,VCV002085464,2085464,NM_000238.4(KCNH2):c.2698dup (p.Glu900fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2085464,2085464,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950260:A:AGT,KCNH2,VCV002078663,2078663,NM_000238.4(KCNH2):c.2304_2305dup (p.Leu769fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2078663,2078663,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950406:G:GA,KCNH2,VCV002071298,2071298,NM_000238.4(KCNH2):c.2159dup (p.Pro721_Glu722insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2071298,2071298,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950961:TG:T,KCNH2,VCV002062924,2062924,NM_000238.4(KCNH2):c.2104del (p.Gln702fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2062924,2062924,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951769:A:G,KCNH2,VCV002055725,2055725,NM_000238.4(KCNH2):c.1624T>C (p.Tyr542His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2055725,2055725,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951690:C:T,KCNH2,VCV002042701,2042701,NM_000238.4(KCNH2):c.1703G>A (p.Trp568Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2042701,2042701,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id
+7:150946955:C:CGGGGTGG,KCNH2,VCV002033107,2033107,NM_000238.4(KCNH2):c.3245_3251dup (p.Gly1085fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2033107,2033107,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951345:AGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCAT:A,KCNH2,VCV002032030,2032030,NM_000238.4(KCNH2):c.1720_1945+102del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2032030,2032030,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150958414:GCCGCCCGCGCCGC:G,KCNH2,VCV002023450,2023450,NM_000238.4(KCNH2):c.548_560del (p.Gly183fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2023450,2023450,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951627:A:AGGTT,KCNH2,VCV002016168,2016168,NM_000238.4(KCNH2):c.1762_1765dup (p.Leu589fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2016168,2016168,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947376:C:CGGGG,KCNH2,VCV002012895,2012895,NM_000238.4(KCNH2):c.3100_3103dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2012895,2012895,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947718:GCTGGAGCTGCGGC:G,KCNH2,VCV002002742,2002742,NM_000238.4(KCNH2):c.2840_2852del (p.Gly947fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2002742,2002742,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150958414:GCCGCCCGC:G,KCNH2,VCV001994302,1994302,NM_000238.4(KCNH2):c.553_560del (p.Ala185fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1994302,1994302,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950275:G:GGT,KCNH2,VCV001994292,1994292,NM_000238.4(KCNH2):c.2289_2290dup (p.Pro764fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1994292,1994292,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150958488:AG:A,KCNH2,VCV001968946,1968946,NM_000238.4(KCNH2):c.486del (p.Phe163fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1968946,1968946,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150957404:T:A,KCNH2,VCV001805233,1805233,NM_000238.4(KCNH2):c.1015A>T (p.Asn339Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1805233,1805233,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150947380:G:GC,KCNH2,VCV001804945,1804945,NM_000238.4(KCNH2):c.3099dup (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1804945,1804945,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id
+7:150957290:C:G,KCNH2,VCV001799488,1799488,NM_000238.4(KCNH2):c.1128+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1799488,1799488,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150947667:C:CGGCG,KCNH2,VCV001797445,1797445,NM_000238.4(KCNH2):c.2900_2903dup (p.Gly969fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1797445,1797445,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id
+7:150947676:TC:T,KCNH2,VCV001797337,1797337,NM_000238.4(KCNH2):c.2894del (p.Gly965fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1797337,1797337,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id
+7:150947808:G:GC,KCNH2,VCV001795706,1795706,NM_000238.4(KCNH2):c.2762dup (p.Arg922fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1795706,1795706,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id
+7:150947819:TCGGCCCTGCCCCCGCC:T,KCNH2,VCV001795334,1795334,NM_000238.4(KCNH2):c.2736_2751del (p.Ala913fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1795334,1795334,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150947836:C:CG,KCNH2,VCV001795320,1795320,NM_000238.4(KCNH2):c.2734dup (p.Arg912fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1795320,1795320,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150947826:TGCCCCCGCCCGGCCCG:T,KCNH2,VCV001795256,1795256,NM_000238.4(KCNH2):c.2729_2744del (p.Pro910fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1795256,1795256,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id
+7:150948488:CG:C,KCNH2,VCV001794263,1794263,NM_000238.4(KCNH2):c.2647del (p.Arg883fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1794263,1794263,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150948880:C:CA,KCNH2,VCV001793177,1793177,NM_000238.4(KCNH2):c.2567dup (p.Glu857fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1793177,1793177,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150950189:C:CG,KCNH2,VCV001790360,1790360,NM_000238.4(KCNH2):c.2376dup (p.Asp793fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1790360,1790360,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150974788:CG:A,KCNH2,VCV001789092,1789092,NM_000238.4(KCNH2):c.229_230delinsT (p.Arg77fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1789092,1789092,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150950421:C:G,KCNH2,VCV001786650,1786650,NM_000238.4(KCNH2):c.2146-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1786650,1786650,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id
+7:150974746:TCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAG:T,KCNH2,VCV001785054,1785054,NM_000238.4(KCNH2):c.205_271del (p.Leu69fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1785054,1785054,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150951106:TAGCAT:A,KCNH2,VCV001783287,1783287,NM_000238.4(KCNH2):c.1955_1960delinsT (p.Tyr652fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1783287,1783287,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id
+7:150951650:TG:T,KCNH2,VCV001779222,1779222,NM_000238.4(KCNH2):c.1742del (p.Ser581fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1779222,1779222,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150951731:CAT:C,KCNH2,VCV001777473,1777473,NM_000238.4(KCNH2):c.1660_1661del (p.Met554fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1777473,1777473,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150952596:C:CA,KCNH2,VCV001771379,1771379,NM_000238.4(KCNH2):c.1385dup (p.Met462fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1771379,1771379,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150957503:C:A,KCNH2,VCV001766052,1766052,NM_000238.4(KCNH2):c.917-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1766052,1766052,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150958070:TGGCGCGGTGGCGG:T,KCNH2,VCV001765131,1765131,NM_000238.4(KCNH2):c.892_904del (p.Pro298fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1765131,1765131,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150974931:G:C,KCNH2,VCV001764714,1764714,NM_000238.4(KCNH2):c.87C>G (p.Phe29Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1764714,1764714,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150958047:CGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCT:C,KCNH2,VCV001762927,1762927,NM_000238.4(KCNH2):c.832_916+11del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1762927,1762927,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150958239:C:CG,KCNH2,VCV001758500,1758500,NM_000238.4(KCNH2):c.735dup (p.Gly246fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1758500,1758500,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150958417:G:GC,KCNH2,VCV001748411,1748411,NM_000238.4(KCNH2):c.557dup (p.Gly187fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1748411,1748411,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150959576:GGCCA:G,KCNH2,VCV001742104,1742104,NM_000238.4(KCNH2):c.464_467del (p.Leu155fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1742104,1742104,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150959582:C:T,KCNH2,VCV001742024,1742024,NM_000238.4(KCNH2):c.462G>A (p.Trp154Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1742024,1742024,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id
+7:150959646:AT:A,KCNH2,VCV001736686,1736686,NM_000238.4(KCNH2):c.397del (p.Met133fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1736686,1736686,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150947385:CGA:C,KCNH2,VCV001727478,1727478,NM_000238.4(KCNH2):c.3093_3094del (p.Arg1032fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1727478,1727478,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150950163:C:T,KCNH2,VCV001713142,1713142,NM_000238.4(KCNH2):c.2398+5G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1713142,1713142,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150958105:G:GGCCTC,KCNH2,VCV001711664,1711664,NM_000238.4(KCNH2):c.865_869dup (p.Met291fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1711664,1711664,,,,unmatched
+7:150947667:C:CG,KCNH2,VCV001711663,1711663,NM_000238.4(KCNH2):c.2903dup (p.Gly970fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1711663,1711663,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950365:C:CGGCT,KCNH2,VCV001701539,1701539,NM_000238.4(KCNH2):c.2200_2201insAGCC (p.Arg734fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1701539,1701539,,,,unmatched
+7:150951573:AT:A,KCNH2,VCV001698966,1698966,NM_000238.4(KCNH2):c.1819del (p.Ile607fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1698966,1698966,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id
+7:150974937:AC:A,KCNH2,VCV001683771,1683771,NM_000238.4(KCNH2):c.80del (p.Arg27fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1683771,1683771,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150959644:C:A,KCNH2,VCV001683770,1683770,NM_000238.4(KCNH2):c.400G>T (p.Glu134Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1683770,1683770,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150951528:A:T,KCNH2,VCV001676088,1676088,NM_000238.4(KCNH2):c.1865T>A (p.Leu622His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1676088,1676088,,,,unmatched
+7:150951789:ACGCGCACCAGCCGCAGCAGCCG:A,KCNH2,VCV001675096,1675096,NM_000238.4(KCNH2):c.1582_1603del (p.Arg528fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1675096,1675096,Short QT syndrome type 1;Long QT syndrome 2,Short QT syndrome type 1;Long QT syndrome 2,Short QT syndrome type 1;Long QT syndrome 2,variation_id
+7:150947814:G:GCTACTCGGCCCTGCCCCCGCCCGGCC,KCNH2,VCV001527874,1527874,NM_000238.4(KCNH2):c.2731_2756dup (p.Ser919fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1527874,1527874,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150952585:T:G,KCNH2,VCV001527873,1527873,NM_000238.4(KCNH2):c.1397A>C (p.Asp466Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1527873,1527873,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150977911:C:T,KCNH2,VCV001524546,1524546,NM_000238.4(KCNH2):c.3G>A (p.Met1Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1524546,1524546,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951121:C:G,KCNH2,VCV001521307,1521307,NM_000238.4(KCNH2):c.1946-1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1521307,1521307,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150948959:AGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTG:A,KCNH2,VCV001499958,1499958,NM_000238.4(KCNH2):c.2399-108_2488del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1499958,1499958,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150957504:T:C,KCNH2,VCV001488212,1488212,NM_000238.4(KCNH2):c.917-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1488212,1488212,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951836:C:G,KCNH2,VCV001473108,1473108,NM_000238.4(KCNH2):c.1558-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1473108,1473108,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150952693:G:T,KCNH2,VCV001467197,1467197,NM_000238.4(KCNH2):c.1289C>A (p.Ala430Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1467197,1467197,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150974784:AGCGCGGCGCTGCGT:A,KCNH2,VCV001458718,1458718,NM_000238.4(KCNH2):c.220_233del (p.Thr74fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1458718,1458718,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id
+7:150959621:C:CG,KCNH2,VCV001458716,1458716,NM_000238.4(KCNH2):c.422dup (p.Ala142fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1458716,1458716,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id
+7:150952677:CTCCTTCA:C,KCNH2,VCV001457690,1457690,NM_000238.4(KCNH2):c.1298_1304del (p.Leu433fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1457690,1457690,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950952:C:T,KCNH2,VCV001456278,1456278,NM_000238.4(KCNH2):c.2114G>A (p.Trp705Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1456278,1456278,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150974807:C:CGTGCAGGAAGTCGCAG,KCNH2,VCV001456173,1456173,NM_000238.4(KCNH2):c.195_210dup (p.Gly71fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1456173,1456173,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150949012:A:T,KCNH2,VCV001455507,1455507,NM_000238.4(KCNH2):c.2436T>A (p.Tyr812Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1455507,1455507,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150948451:CG:C,KCNH2,VCV001455493,1455493,NM_000238.4(KCNH2):c.2684del (p.Thr895fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1455493,1455493,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150959579:CA:C,KCNH2,VCV001453664,1453664,NM_000238.4(KCNH2):c.464del (p.Leu155fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1453664,1453664,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150958153:TTCTCGGGAGCGCG:T,KCNH2,VCV001452777,1452777,NM_000238.4(KCNH2):c.809_821del (p.Thr270fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1452777,1452777,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950944:T:TGTAG,KCNH2,VCV001452601,1452601,NM_000238.4(KCNH2):c.2118_2121dup (p.Thr708fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1452601,1452601,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947392:G:GGC,KCNH2,VCV001452025,1452025,NM_000238.4(KCNH2):c.3086_3087dup (p.Pro1030fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1452025,1452025,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150948910:AGG:A,KCNH2,VCV001439179,1439179,NM_000238.4(KCNH2):c.2536_2537del (p.Tyr845_Pro846insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1439179,1439179,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150945386:G:GT,KCNH2,VCV001434518,1434518,NM_000238.4(KCNH2):c.3458dup (p.His1153fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1434518,1434518,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951471:G:T,KCNH2,VCV001424837,1424837,NM_000238.4(KCNH2):c.1922C>A (p.Ser641Tyr),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1424837,1424837,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id
+7:150947440:GA:G,KCNH2,VCV001422891,1422891,NM_000238.4(KCNH2):c.3039del (p.Arg1014fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1422891,1422891,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947370:T:TCGCCC,KCNH2,VCV001414553,1414553,NM_000238.4(KCNH2):c.3105_3109dup (p.Asp1037fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1414553,1414553,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id
+7:150958169:CG:C,KCNH2,VCV001410227,1410227,NM_000238.4(KCNH2):c.805del (p.Arg269fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1410227,1410227,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150948889:C:T,KCNH2,VCV001406991,1406991,NM_000238.4(KCNH2):c.2559G>A (p.Trp853Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1406991,1406991,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947629:C:CTGCTCTTCTCG,KCNH2,VCV001398420,1398420,NM_000238.4(KCNH2):c.2931_2941dup (p.Ser981fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1398420,1398420,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951763:C:CT,KCNH2,VCV001397577,1397577,NM_000238.4(KCNH2):c.1629dup (p.Glu544fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1397577,1397577,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id
+7:150959625:GA:G,KCNH2,VCV001338861,1338861,NM_000238.4(KCNH2):c.418del (p.Ser140fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1338861,1338861,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150977872:GA:G,KCNH2,VCV001335697,1335697,NM_000238.4(KCNH2):c.41del (p.Phe14fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1335697,1335697,,,,unmatched
+7:150957290:C:T,KCNH2,VCV001334904,1334904,NM_000238.4(KCNH2):c.1128+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1334904,1334904,Prolonged QT interval|Long QT syndrome,Prolonged QT interval|Long QT syndrome,Prolonged QT interval|Long QT syndrome,variation_id
+7:150977836:A:T,KCNH2,VCV001331098,1331098,NM_000238.4(KCNH2):c.76+2T>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,1331098,1331098,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id
+7:150958185:TGGAGCCCGAGGCGTCG:T,KCNH2,VCV001323136,1323136,NM_000238.4(KCNH2):c.774_789del (p.Asp259fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1323136,1323136,,,,unmatched
+7:150951685:C:A,KCNH2,VCV001284270,1284270,NM_000238.4(KCNH2):c.1708G>T (p.Ala570Ser),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1284270,1284270,,,,unmatched
+7:150947796:CC:A,KCNH2,VCV001219815,1219815,NM_000238.4(KCNH2):c.2774_2775delinsT (p.Gly925fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1219815,1219815,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id
+7:150957460:G:T,KCNH2,VCV001215035,1215035,NM_000238.4(KCNH2):c.959C>A (p.Ser320Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1215035,1215035,,,,unmatched
+7:150951592:CG:C,KCNH2,VCV001213540,1213540,NM_000238.4(KCNH2):c.1800del (p.Ser600fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1213540,1213540,,,,unmatched
+7:150977836:A:AC,KCNH2,VCV001211558,1211558,NM_000238.4(KCNH2):c.76+1dup,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,splice_or_intronic,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1211558,1211558,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150958394:ACGGCCCCCGGGGCGCCCGCGCCGCCCGC:CCCGGT,KCNH2,VCV001202184,1202184,NM_000238.4(KCNH2):c.553_581delinsACCGGG (p.Ala185fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1202184,1202184,,,,unmatched
+7:150950957:GT:G,KCNH2,VCV001201653,1201653,NM_000238.4(KCNH2):c.2108del (p.His703fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1201653,1201653,,,,unmatched
+7:150947447:CT:C,KCNH2,VCV001191999,1191999,NM_000238.4(KCNH2):c.3032del (p.Glu1011fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1191999,1191999,,,,unmatched
+7:150951535:T:C,KCNH2,VCV001189275,1189275,NM_000238.4(KCNH2):c.1858A>G (p.Ser620Gly),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1189275,1189275,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150952557:G:T,KCNH2,VCV001178326,1178326,NM_000238.4(KCNH2):c.1425C>A (p.Tyr475Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1178326,1178326,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150950421:C:T,KCNH2,VCV001163877,1163877,NM_000238.4(KCNH2):c.2146-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1163877,1163877,,,,unmatched
+7:150947611:A:AG,KCNH2,VCV001098796,1098796,NM_000238.4(KCNH2):c.2959dup (p.Leu987fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1098796,1098796,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+7:150948450:C:CCGTG,KCNH2,VCV001076538,1076538,NM_000238.4(KCNH2):c.2682_2685dup (p.Asp896fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1076538,1076538,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150946951:G:GC,KCNH2,VCV001076264,1076264,NM_000238.4(KCNH2):c.3255dup (p.Pro1086fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1076264,1076264,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947371:CGCCCCGGG:C,KCNH2,VCV001074304,1074304,NM_000238.4(KCNH2):c.3101_3108del (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1074304,1074304,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id
+7:150947639:C:CGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCCTCCAG,KCNH2,VCV001073738,1073738,NM_000238.4(KCNH2):c.2931_2932insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu978fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1073738,1073738,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150957462:GGT:G,KCNH2,VCV001072804,1072804,NM_000238.4(KCNH2):c.955_956del (p.Thr319fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1072804,1072804,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150948455:C:CGCCTG,KCNH2,VCV001072580,1072580,NM_000238.4(KCNH2):c.2676_2680dup (p.Arg894fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1072580,1072580,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947373:C:CCCCGGGGCCG,KCNH2,VCV001072040,1072040,NM_000238.4(KCNH2):c.3097_3106dup (p.Gly1036fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1072040,1072040,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951681:A:ATGGCG,KCNH2,VCV001070567,1070567,NM_000238.4(KCNH2):c.1707_1711dup (p.Ile571fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1070567,1070567,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947380:GCCGCCGACCCGGGC:G,KCNH2,VCV001070541,1070541,NM_000238.4(KCNH2):c.3086_3099del (p.Ser1029fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1070541,1070541,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150974775:CTGCGCGGCAGCGCGGCGCTGCG:C,KCNH2,VCV001070208,1070208,NM_000238.4(KCNH2):c.221_242del (p.Thr74fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1070208,1070208,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150958418:CCCGCGCCGCCCGA:C,KCNH2,VCV001069329,1069329,NM_000238.4(KCNH2):c.544_556del (p.Ser182fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1069329,1069329,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150952509:GACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGT:G,KCNH2,VCV001069284,1069284,NM_000238.4(KCNH2):c.1420_1472del (p.Thr474fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1069284,1069284,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150948892:GA:G,KCNH2,VCV001068978,1068978,NM_000238.4(KCNH2):c.2555del (p.Phe852fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1068978,1068978,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951565:T:C,KCNH2,VCV001066309,1066309,NM_000238.4(KCNH2):c.1828A>G (p.Lys610Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1066309,1066309,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150957276:CCGCTGGGCGC:GT,KCNH2,VCV001064627,1064627,NM_000238.4(KCNH2):c.1128+5_1128+15delinsAC,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1064627,1064627,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150949076:CT:C,KCNH2,VCV001064605,1064605,NM_000238.4(KCNH2):c.2399-28del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1064605,1064605,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150951562:ACTTGTC:A,KCNH2,VCV001058879,1058879,NM_000238.4(KCNH2):c.1825_1830del (p.Asp609_Lys610del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1058879,1058879,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951496:T:G,KCNH2,VCV001001814,1001814,NM_000238.4(KCNH2):c.1897A>C (p.Asn633His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1001814,1001814,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947162:GGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCC:G,KCNH2,VCV000992792,992792,NM_000238.4(KCNH2):c.2692+167_3153-109del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,992792,992792,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150948459:TG:T,KCNH2,VCV000983076,983076,NM_000238.4(KCNH2):c.2676del (p.Arg893fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,983076,983076,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150951098:GA:G,KCNH2,VCV000979201,979201,NM_000238.4(KCNH2):c.1967del (p.Phe656fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,979201,979201,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150950221:A:G,KCNH2,VCV000977169,977169,NM_000238.4(KCNH2):c.2345T>C (p.Ile782Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,977169,977169,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,variation_id
+7:150951484:C:A,KCNH2,VCV000977166,977166,NM_000238.4(KCNH2):c.1909G>T (p.Glu637Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,977166,977166,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150952753:C:T,KCNH2,VCV000972695,972695,NM_000238.4(KCNH2):c.1229G>A (p.Trp410Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,972695,972695,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150974872:C:A,KCNH2,VCV000972694,972694,NM_000238.4(KCNH2):c.146G>T (p.Cys49Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,972694,972694,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150957416:G:A,KCNH2,VCV000968402,968402,NM_000238.4(KCNH2):c.1003C>T (p.Gln335Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,968402,968402,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,variation_id
+7:150958161:AGC:A,KCNH2,VCV000960485,960485,NM_000238.4(KCNH2):c.812_813del (p.Arg271fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,960485,960485,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951646:T:TGC,KCNH2,VCV000958799,958799,NM_000238.4(KCNH2):c.1745_1746dup (p.Ile583fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,958799,958799,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150957391:AG:A,KCNH2,VCV000956361,956361,NM_000238.4(KCNH2):c.1027del (p.Leu343fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,956361,956361,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150958266:GAC:G,KCNH2,VCV000955885,955885,NM_000238.4(KCNH2):c.707_708del (p.Gly236fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,955885,955885,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947800:C:CCCGG,KCNH2,VCV000949692,949692,NM_000238.4(KCNH2):c.2767_2770dup (p.Gly924fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,949692,949692,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947367:A:ACGTCG,KCNH2,VCV000947666,947666,NM_000238.4(KCNH2):c.3108_3112dup (p.Val1038fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,947666,947666,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947610:CA:C,KCNH2,VCV000943648,943648,NM_000238.4(KCNH2):c.2960del (p.Leu987fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,943648,943648,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951705:C:T,KCNH2,VCV000943351,943351,NM_000238.4(KCNH2):c.1688G>A (p.Trp563Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,943351,943351,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951097:CG:AA,KCNH2,VCV000943187,943187,NM_000238.4(KCNH2):c.1968_1969delinsTT (p.Gly657Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,MNV_or_substitution,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,943187,943187,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951076:GGATGATGGCCGACACGTTGCCGAA:G,KCNH2,VCV000941189,941189,NM_000238.4(KCNH2):c.1966_1989del (p.Phe656_Ile663del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,941189,941189,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150952784:TG:T,KCNH2,VCV000939419,939419,NM_000238.4(KCNH2):c.1197del (p.Ile400fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,939419,939419,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150948478:CTTGCG:C,KCNH2,VCV000937320,937320,NM_000238.4(KCNH2):c.2653_2657del (p.Arg885fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,937320,937320,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950279:CAT:C,KCNH2,VCV000937182,937182,NM_000238.4(KCNH2):c.2285_2286del (p.His762fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,937182,937182,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951117:AGGGCTGG:A,KCNH2,VCV000936138,936138,NM_000238.4(KCNH2):c.1946-4_1948del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,936138,936138,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150958070:TG:T,KCNH2,VCV000934348,934348,NM_000238.4(KCNH2):c.904del (p.His302fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,934348,934348,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947373:CCCCGGGG:GCC,KCNH2,VCV000928528,928528,NM_000238.4(KCNH2):c.3100_3107delinsGGC (p.Pro1034fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,928528,928528,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id
+7:150947517:G:C,KCNH2,VCV000871784,871784,NM_000238.4(KCNH2):c.2966-3C>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,871784,871784,,,,unmatched
+7:150974923:G:A,KCNH2,VCV000869439,869439,NM_000238.4(KCNH2):c.95C>T (p.Ala32Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,869439,869439,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150951460:T:G,KCNH2,VCV000869431,869431,NM_000238.4(KCNH2):c.1933A>C (p.Met645Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,869431,869431,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150974820:G:T,KCNH2,VCV000863419,863419,NM_000238.4(KCNH2):c.198C>A (p.Cys66Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,863419,863419,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150957305:C:CAG,KCNH2,VCV000858246,858246,NM_000238.4(KCNH2):c.1112_1113dup (p.Glu372fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,858246,858246,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150974807:C:A,KCNH2,VCV000853484,853484,NM_000238.4(KCNH2):c.211G>T (p.Gly71Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,853484,853484,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951814:CA:C,KCNH2,VCV000851169,851169,NM_000238.4(KCNH2):c.1578del (p.Ala527fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,851169,851169,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id
+7:150958467:G:GC,KCNH2,VCV000850821,850821,NM_000238.4(KCNH2):c.507dup (p.Leu170fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,850821,850821,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150948492:TGAAGCCACCC:T,KCNH2,VCV000846538,846538,NM_000238.4(KCNH2):c.2634_2643del (p.Gly879fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,846538,846538,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150958194:AGGCGTCG:A,KCNH2,VCV000835590,835590,NM_000238.4(KCNH2):c.774_780del (p.Asp259fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,835590,835590,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150957316:TG:T,KCNH2,VCV000818076,818076,NM_000238.4(KCNH2):c.1102del (p.His368fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,818076,818076,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150947784:C:CTCCCCCCA,KCNH2,VCV000817961,817961,NM_000238.4(KCNH2):c.2779_2786dup (p.Glu929fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,817961,817961,,,,unmatched
+7:150947343:TGGAG:T,KCNH2,VCV000817602,817602,NM_000238.4(KCNH2):c.3133_3136del (p.Leu1045fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,817602,817602,,,,unmatched
+7:150952564:G:A,KCNH2,VCV000811073,811073,NM_000238.4(KCNH2):c.1418C>T (p.Thr473Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,811073,811073,,,,unmatched
+7:150952423:A:G,KCNH2,VCV000695023,695023,NM_000238.4(KCNH2):c.1557+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,695023,695023,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150974767:TGCGCGATCTGCGCGGCAGC:T,KCNH2,VCV000692260,692260,NM_000238.4(KCNH2):c.232_250del (p.Ala78fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,692260,692260,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150948519:C:CG,KCNH2,VCV000692259,692259,NM_000238.4(KCNH2):c.2616dup (p.Gly873fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,692259,692259,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id
+7:150947377:G:GGGGC,KCNH2,VCV000692257,692257,NM_000238.4(KCNH2):c.3099_3102dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,692257,692257,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150951082:TG:T,KCNH2,VCV000667408,667408,NM_000238.4(KCNH2):c.1983del (p.Ile662fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,667408,667408,Congenital long QT syndrome|Long QT syndrome,Congenital long QT syndrome|Long QT syndrome,Congenital long QT syndrome|Long QT syndrome,variation_id
+7:150948446:T:GTGTCG,KCNH2,VCV000663923,663923,NM_000238.4(KCNH2):c.2690delinsCGACAC (p.Lys897fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,663923,663923,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150974871:GC:TT,KCNH2,VCV000663471,663471,NM_000238.4(KCNH2):c.146_147delinsAA (p.Cys49Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,663471,663471,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id
+7:150947039:C:CA,KCNH2,VCV000660047,660047,NM_000238.4(KCNH2):c.3167dup (p.Ser1057fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,660047,660047,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150946975:AGGCGGGC:A,KCNH2,VCV000657779,657779,NM_000238.4(KCNH2):c.3225_3231del (p.Pro1076fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,657779,657779,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id
+7:150952602:GT:G,KCNH2,VCV000652241,652241,NM_000238.4(KCNH2):c.1379del (p.Asp460fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,652241,652241,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951738:A:T,KCNH2,VCV000648088,648088,NM_000238.4(KCNH2):c.1655T>A (p.Leu552Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,648088,648088,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150974933:AC:A,KCNH2,VCV000645394,645394,NM_000238.4(KCNH2):c.84del (p.Lys28fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,645394,645394,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150974767:T:TGCGCGATCTGCGCGGCA,KCNH2,VCV000641517,641517,NM_000238.4(KCNH2):c.234_250dup (p.Gln84fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,641517,641517,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950308:GC:G,KCNH2,VCV000640022,640022,NM_000238.4(KCNH2):c.2257del (p.Ala753fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,640022,640022,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947371:C:CG,KCNH2,VCV000637977,637977,NM_000238.4(KCNH2):c.3108dup (p.Asp1037fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,637977,637977,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,variation_id
+7:150952842:CA:C,KCNH2,VCV000632866,632866,NM_000238.4(KCNH2):c.1139del (p.Leu380fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,632866,632866,Long QT syndrome|Long QT syndrome 2||Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2||Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2||Cardiovascular phenotype,variation_id
+7:150951063:G:T,KCNH2,VCV000620172,620172,NM_000238.4(KCNH2):c.2003C>A (p.Ser668Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,620172,620172,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id
+7:150952634:G:A,KCNH2,VCV000620154,620154,NM_000238.4(KCNH2):c.1348C>T (p.Gln450Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,620154,620154,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951520:C:G,KCNH2,VCV000618184,618184,NM_000238.4(KCNH2):c.1873G>C (p.Val625Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,618184,618184,,,,unmatched
+7:150947865:TG:T,KCNH2,VCV000598783,598783,NM_000238.4(KCNH2):c.2705del (p.Pro902fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,598783,598783,Long QT syndrome 2|Cardiovascular phenotype|Long QT syndrome,Long QT syndrome 2|Cardiovascular phenotype|Long QT syndrome,Long QT syndrome 2|Cardiovascular phenotype|Long QT syndrome,variation_id
+7:150958047:CGGCGCCCTCACCGGTGCT:C,KCNH2,VCV000582292,582292,NM_000238.4(KCNH2):c.910_916+11del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,582292,582292,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951638:C:G,KCNH2,VCV000581669,581669,NM_000238.4(KCNH2):c.1755G>C (p.Trp585Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,581669,581669,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150977836:ACT:A,KCNH2,VCV000579489,579489,NM_000238.4(KCNH2):c.76_76+1del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,579489,579489,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951702:A:T,KCNH2,VCV000572344,572344,NM_000238.4(KCNH2):c.1691T>A (p.Leu564Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,572344,572344,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947370:T:TCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGG,KCNH2,VCV000570715,570715,NM_000238.4(KCNH2):c.1129-831_3109dup,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,570715,570715,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951499:GAGAGACGTTG:CTTCA,KCNH2,VCV000570494,570494,NM_000238.4(KCNH2):c.1884_1894delinsTGAAG (p.Asn629_Pro632delinsGluAla),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,570494,570494,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947640:G:T,KCNH2,VCV000568003,568003,NM_000238.4(KCNH2):c.2931C>A (p.Cys977Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,568003,568003,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150952848:CAG:C,KCNH2,VCV000565724,565724,NM_000238.4(KCNH2):c.1132_1133del (p.Leu378fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,565724,565724,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951545:G:C,KCNH2,VCV000560696,560696,NM_000238.4(KCNH2):c.1848C>G (p.Tyr616Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,560696,560696,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150947391:GG:CGGGAGACCC,KCNH2,VCV000545950,545950,NM_000238.4(KCNH2):c.3088_3089delinsGGGTCTCCCG (p.Pro1030fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,545950,545950,,,,unmatched
+7:150959573:TG:T,KCNH2,VCV000526969,526969,NM_000238.4(KCNH2):c.470del (p.Pro157fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,526969,526969,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951704:C:T,KCNH2,VCV000526968,526968,NM_000238.4(KCNH2):c.1689G>A (p.Trp563Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,526968,526968,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947832:CGCCCG:C,KCNH2,VCV000526939,526939,NM_000238.4(KCNH2):c.2734_2738del (p.Arg912fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,526939,526939,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id
+7:150977847:C:CA,KCNH2,VCV000526932,526932,NM_000238.4(KCNH2):c.66dup (p.Glu23Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,526932,526932,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150958438:CGACGACTCCCGGGCCGTCAGCGCCA:C,KCNH2,VCV000526925,526925,NM_000238.4(KCNH2):c.512_536del (p.Leu171fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,526925,526925,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150948478:C:CT,KCNH2,VCV000526908,526908,NM_000238.4(KCNH2):c.2657dup (p.Arg887fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,526908,526908,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150958423:G:GCCGCCCGA,KCNH2,VCV000524038,524038,NM_000238.4(KCNH2):c.544_551dup (p.Ala185fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,524038,524038,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947372:G:GCCCCGGGGCCGCC,KCNH2,VCV000523953,523953,NM_000238.4(KCNH2):c.3095_3107dup (p.Asp1037fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,523953,523953,,,,unmatched
+7:150945390:CTG:C,KCNH2,VCV000523712,523712,NM_000238.4(KCNH2):c.3453_3454del (p.His1151fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,523712,523712,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150958430:G:GACCGCACC,KCNH2,VCV000523697,523697,NM_000238.4(KCNH2):c.537_544dup (p.Ser182fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,523697,523697,,,,unmatched
+7:150974926:A:T,KCNH2,VCV000520423,520423,NM_000238.4(KCNH2):c.92T>A (p.Ile31Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,520423,520423,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150951772:GA:G,KCNH2,VCV000519551,519551,NM_000238.4(KCNH2):c.1620del (p.Arg541fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519551,519551,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150947014:G:A,KCNH2,VCV000519524,519524,NM_000238.4(KCNH2):c.3193C>T (p.Gln1065Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519524,519524,Cardiovascular phenotype|Long QT syndrome|Short QT syndrome type 1;Long QT syndrome 2,Cardiovascular phenotype|Long QT syndrome|Short QT syndrome type 1;Long QT syndrome 2,Cardiovascular phenotype|Long QT syndrome|Short QT syndrome type 1;Long QT syndrome 2,variation_id
+7:150947798:CCCCCGGCCGG:C,KCNH2,VCV000519509,519509,NM_000238.4(KCNH2):c.2763_2772del (p.Arg922fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519509,519509,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id
+7:150974856:G:C,KCNH2,VCV000519501,519501,NM_000238.4(KCNH2):c.162C>G (p.Tyr54Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519501,519501,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150950329:GC:G,KCNH2,VCV000519473,519473,NM_000238.4(KCNH2):c.2236del (p.Ala746fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519473,519473,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150952691:A:G,KCNH2,VCV000519399,519399,NM_000238.4(KCNH2):c.1291T>C (p.Phe431Leu),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519399,519399,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id
+7:150948449:TCCGTGCG:T,KCNH2,VCV000519378,519378,NM_000238.4(KCNH2):c.2680_2686del (p.Arg894fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519378,519378,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id
+7:150947386:G:GACCC,KCNH2,VCV000519348,519348,NM_000238.4(KCNH2):c.3090_3093dup (p.Arg1032fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519348,519348,Cardiovascular phenotype||Long QT syndrome,Cardiovascular phenotype||Long QT syndrome,Cardiovascular phenotype||Long QT syndrome,variation_id
+7:150951504:AC:A,KCNH2,VCV000519330,519330,NM_000238.4(KCNH2):c.1888del (p.Val630fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519330,519330,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150958163:C:CT,KCNH2,VCV000519329,519329,NM_000238.4(KCNH2):c.811_812insA (p.Arg271fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519329,519329,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150947377:GGGGCCGCCGACCC:G,KCNH2,VCV000519327,519327,NM_000238.4(KCNH2):c.3090_3102del (p.Arg1032fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519327,519327,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id
+7:150958167:TCCG:ACT,KCNH2,VCV000519255,519255,NM_000238.4(KCNH2):c.805_808delinsAGT (p.Arg269fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519255,519255,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150958064:C:CTGGCG,KCNH2,VCV000519237,519237,NM_000238.4(KCNH2):c.906_910dup (p.Ser304fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519237,519237,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id
+7:150948996:ACTTGCCAGGC:A,KCNH2,VCV000519234,519234,NM_000238.4(KCNH2):c.2442_2451del (p.Arg814fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519234,519234,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id
+7:150946876:C:T,KCNH2,VCV000519217,519217,NM_000238.4(KCNH2):c.3330+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519217,519217,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150974710:CC:AA,KCNH2,VCV000519204,519204,NM_000238.4(KCNH2):c.307_307+1delinsTT,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,splice_or_intronic,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519204,519204,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id
+7:150951537:AAGGTGAAGT:A,KCNH2,VCV000503778,503778,NM_000238.4(KCNH2):c.1847_1855del (p.Tyr616_Thr618del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,503778,503778,,,,unmatched
+7:150974766:CTGCGCGATCTGCGCGGCAGCGCGGCGCTGCG:C,KCNH2,VCV000503735,503735,NM_000238.4(KCNH2):c.221_251del (p.Thr74fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,503735,503735,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950159:ACCCCATAC:A,KCNH2,VCV000503674,503674,NM_000238.4(KCNH2):c.2398+1_2398+8del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,503674,503674,,,,unmatched
+7:150947373:CCCCGGGGCCGCCGA:C,KCNH2,VCV000503672,503672,NM_000238.4(KCNH2):c.3093_3106del (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,503672,503672,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947367:A:ACGTCGCC,KCNH2,VCV000503659,503659,NM_000238.4(KCNH2):c.3106_3112dup (p.Val1038fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,503659,503659,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947804:GC:G,KCNH2,VCV000495746,495746,NM_000238.4(KCNH2):c.2766del (p.Pro923fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,495746,495746,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+7:150951686:G:C,KCNH2,VCV000489342,489342,NM_000238.4(KCNH2):c.1707C>G (p.Tyr569Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,489342,489342,,,,unmatched
+7:150974856:G:T,KCNH2,VCV000488895,488895,NM_000238.4(KCNH2):c.162C>A (p.Tyr54Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,488895,488895,,,,unmatched
+7:150948510:C:A,KCNH2,VCV000488692,488692,NM_000238.4(KCNH2):c.2626G>T (p.Glu876Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,488692,488692,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150959583:C:T,KCNH2,VCV000456935,456935,NM_000238.4(KCNH2):c.461G>A (p.Trp154Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456935,456935,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947373:C:CCCCGGGG,KCNH2,VCV000456921,456921,NM_000238.4(KCNH2):c.3100_3106dup (p.Gly1036fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,456921,456921,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947381:C:CCG,KCNH2,VCV000456919,456919,NM_000238.4(KCNH2):c.3097_3098dup (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,456919,456919,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947383:G:GCCGAC,KCNH2,VCV000456918,456918,NM_000238.4(KCNH2):c.3092_3096dup (p.Arg1033fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,456918,456918,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id
+7:150950347:C:CA,KCNH2,VCV000456904,456904,NM_000238.4(KCNH2):c.2218dup (p.Cys740fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456904,456904,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950248:CCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGT:C,KCNH2,VCV000456903,456903,NM_000238.4(KCNH2):c.2180_2317del (p.Asp727_Ala772del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,456903,456903,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950421:CTG:TT,KCNH2,VCV000456902,456902,NM_000238.4(KCNH2):c.2146-3_2146-1delinsAA,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456902,456902,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951004:G:A,KCNH2,VCV000456901,456901,NM_000238.4(KCNH2):c.2062C>T (p.Gln688Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456901,456901,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150952646:C:CA,KCNH2,VCV000456886,456886,NM_000238.4(KCNH2):c.1335dup (p.Gly446fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,456886,456886,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150957296:TGA:T,KCNH2,VCV000456876,456876,NM_000238.4(KCNH2):c.1121_1122del (p.Val374fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456876,456876,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947005:G:A,KCNH2,VCV000446417,446417,NM_000238.4(KCNH2):c.3202C>T (p.Gln1068Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,446417,446417,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150952424:C:G,KCNH2,VCV000439845,439845,NM_000238.4(KCNH2):c.1557+1G>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,439845,439845,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,variation_id
+7:150947389:C:CCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCA,KCNH2,VCV000431374,431374,NM_000238.4(KCNH2):c.2906_3089dup (p.Gly989_Ala990insIleProGlyAspGlyArgAlaArgGluAspArgAlaTrpGlnArgTrpCysValTyrProAlaHisProAlaLeuLeuSerGlyCysArgArgLeuLeuArgSerValGlnHisPheGlnLeuLeuGlyGlyGlnSerGlyProProValProGlyAlaProSerMetProArgProHisProGlnProProGlnHisProProLeuGlnProValGlySerProTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,431374,431374,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150947631:GCTCTT:G,KCNH2,VCV000431036,431036,NM_000238.4(KCNH2):c.2935_2939del (p.Lys979fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,431036,431036,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150948456:G:GCCTGC,KCNH2,VCV000430730,430730,NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,430730,430730,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id
+7:150951114:A:C,KCNH2,VCV000427945,427945,NM_000238.4(KCNH2):c.1952T>G (p.Met651Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,427945,427945,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150951027:AC:A,KCNH2,VCV000427944,427944,NM_000238.4(KCNH2):c.2038del (p.Val680fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,427944,427944,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id
+7:150951096:C:A,KCNH2,VCV000427076,427076,NM_000238.4(KCNH2):c.1970G>T (p.Gly657Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,427076,427076,,,,unmatched
+7:150958306:TGCCA:G,KCNH2,VCV000426429,426429,NM_000238.4(KCNH2):c.665_669delinsC (p.Val222fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,426429,426429,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id
+7:150951473:G:C,KCNH2,VCV000423753,423753,NM_000238.4(KCNH2):c.1920C>G (p.Phe640Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,423753,423753,,,,unmatched
+7:150950937:CCG:C,KCNH2,VCV000423696,423696,NM_000238.4(KCNH2):c.2127_2128del (p.Asn709fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,423696,423696,,,,unmatched
+7:150947419:T:TG,KCNH2,VCV000423015,423015,NM_000238.4(KCNH2):c.3060dup (p.Ser1021fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,423015,423015,,,,unmatched
+7:150947683:GG:T,KCNH2,VCV000421672,421672,NM_000238.4(KCNH2):c.2887_2888delinsA (p.Pro963fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,421672,421672,,,,unmatched
+7:150950983:G:A,KCNH2,VCV000420923,420923,NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,420923,420923,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id
+7:150947367:ACGTCGCCCCGGGGC:A,KCNH2,VCV000420585,420585,NM_000238.4(KCNH2):c.3099_3112del (p.Pro1034fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,420585,420585,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id
+7:150959706:A:ACCACATC,KCNH2,VCV000420260,420260,NM_000238.4(KCNH2):c.331_337dup (p.Val113fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,420260,420260,,,,unmatched
+7:150951509:GC:G,KCNH2,VCV000419410,419410,NM_000238.4(KCNH2):c.1883del (p.Gly628fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,419410,419410,,,,unmatched
+7:150952468:GC:G,KCNH2,VCV000419379,419379,NM_000238.4(KCNH2):c.1513del (p.Ala505fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,419379,419379,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951667:G:A,KCNH2,VCV000419311,419311,NM_000238.4(KCNH2):c.1726C>T (p.Gln576Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,419311,419311,,,,unmatched
+7:150957370:GC:G,KCNH2,VCV000418919,418919,NM_000238.4(KCNH2):c.1048del (p.Ala350fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418919,418919,,,,unmatched
+7:150947618:T:TG,KCNH2,VCV000418815,418815,NM_000238.4(KCNH2):c.2952dup (p.Asn985fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418815,418815,,,,unmatched
+7:150948977:GC:G,KCNH2,VCV000418787,418787,NM_000238.4(KCNH2):c.2470del (p.Ala824fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418787,418787,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id
+7:150959587:TGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCA:T,KCNH2,VCV000418670,418670,NM_000238.4(KCNH2):c.395_456del (p.Val132fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418670,418670,,,,unmatched
+7:150974854:G:T,KCNH2,VCV000418597,418597,NM_000238.4(KCNH2):c.164C>A (p.Ser55Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,418597,418597,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947370:T:TCGCCCCGGGGC,KCNH2,VCV000405358,405358,NM_000238.4(KCNH2):c.3099_3109dup (p.Asp1037fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,405358,405358,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150959641:TC:T,KCNH2,VCV000405355,405355,NM_000238.4(KCNH2):c.402del (p.Lys135fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405355,405355,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951065:G:GT,KCNH2,VCV000405345,405345,NM_000238.4(KCNH2):c.2000dup (p.Tyr667Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405345,405345,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950200:A:ATC,KCNH2,VCV000405342,405342,NM_000238.4(KCNH2):c.2364_2365dup (p.Ile789fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405342,405342,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150951542:G:T,KCNH2,VCV000392690,392690,NM_000238.4(KCNH2):c.1851C>A (p.Phe617Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,392690,392690,,,,unmatched
+7:150951464:G:T,KCNH2,VCV000392341,392341,NM_000238.4(KCNH2):c.1929C>A (p.Cys643Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,392341,392341,,,,unmatched
+7:150951678:C:G,KCNH2,VCV000391858,391858,NM_000238.4(KCNH2):c.1715G>C (p.Gly572Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,391858,391858,,,,unmatched
+7:150948439:C:A,KCNH2,VCV000387850,387850,NM_000238.4(KCNH2):c.2692+5G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,387850,387850,,,,unmatched
+7:150959738:T:C,KCNH2,VCV000379451,379451,NM_000238.4(KCNH2):c.308-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,379451,379451,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947453:G:C,KCNH2,VCV000379293,379293,NM_000238.4(KCNH2):c.3027C>G (p.Tyr1009Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,379293,379293,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947006:T:TA,KCNH2,VCV000372942,372942,NM_000238.4(KCNH2):c.3200dup (p.Gln1068fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,372942,372942,,,,unmatched
+7:150974897:C:G,KCNH2,VCV000372589,372589,NM_000238.4(KCNH2):c.121G>C (p.Val41Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,372589,372589,,,,unmatched
+7:150947372:G:GCC,KCNH2,VCV000372571,372571,NM_000238.4(KCNH2):c.3106_3107dup (p.Asp1037fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,372571,372571,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150947380:GC:G,KCNH2,VCV000372378,372378,NM_000238.4(KCNH2):c.3099del (p.Arg1035fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,372378,372378,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+7:150950167:C:A,KCNH2,VCV000372377,372377,NM_000238.4(KCNH2):c.2398+1G>T,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,372377,372377,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,variation_id
+3:38557241:T:C,SCN5A,VCV004814196,4814196,NM_000335.5(SCN5A):c.4286A>G (p.Asp1429Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4814196,4814196,SCN5A-related disorder,SCN5A-related disorder,SCN5A-related disorder,variation_id
+3:38556563:G:A,SCN5A,VCV004814157,4814157,NM_000335.5(SCN5A):c.4312C>T (p.Gln1438Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4814157,4814157,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+3:38555679:GGGGCTTCTT:G,SCN5A,VCV004814013,4814013,NM_000335.5(SCN5A):c.4507_4515del (p.Lys1503_Pro1505del),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4814013,4814013,Branchiootic syndrome 1,Branchiootic syndrome 1,Branchiootic syndrome 1,variation_id
+3:38603729:C:A,SCN5A,VCV004757059,4757059,NM_000335.5(SCN5A):c.1873G>T (p.Glu625Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4757059,4757059,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+3:38551453:GC:G,SCN5A,VCV004733790,4733790,NM_000335.5(SCN5A):c.4915del (p.Ala1639fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4733790,4733790,,,,unmatched
+3:38630345:TG:T,SCN5A,VCV004731428,4731428,NM_000335.5(SCN5A):c.357del (p.Ile120fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4731428,4731428,,,,unmatched
+3:38630309:A:G,SCN5A,VCV004730817,4730817,NM_000335.5(SCN5A):c.392+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4730817,4730817,,,,unmatched
+3:38581324:GT:G,SCN5A,VCV004727300,4727300,NM_000335.5(SCN5A):c.2834del (p.Asp945fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4727300,4727300,,,,unmatched
+3:38587440:GA:G,SCN5A,VCV004723344,4723344,NM_000335.5(SCN5A):c.2395del (p.Ser799fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4723344,4723344,,,,unmatched
+3:38603889:AC:A,SCN5A,VCV004722126,4722126,NM_000335.5(SCN5A):c.1712del (p.Ser571fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4722126,4722126,,,,unmatched
+3:38550953:G:A,SCN5A,VCV004721301,4721301,NM_000335.5(SCN5A):c.5416C>T (p.Gln1806Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4721301,4721301,,,,unmatched
+3:38613801:GAC:G,SCN5A,VCV004720439,4720439,NM_000335.5(SCN5A):c.643_644del (p.Val215fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4720439,4720439,,,,unmatched
+3:38581225:C:T,SCN5A,VCV004717480,4717480,NM_000335.5(SCN5A):c.2934G>A (p.Trp978Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4717480,4717480,,,,unmatched
+3:38557283:GC:G,SCN5A,VCV004716661,4716661,NM_001099405.2(SCN5A):c.4246-706del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4716661,4716661,,,,unmatched
+3:38597930:C:T,SCN5A,VCV004716468,4716468,NM_000335.5(SCN5A):c.2061G>A (p.Trp687Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4716468,4716468,,,,unmatched
+3:38557236:TG:T,SCN5A,VCV004714862,4714862,NM_000335.5(SCN5A):c.4290del (p.Arg1431fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4714862,4714862,,,,unmatched
+3:38576755:GC:G,SCN5A,VCV004712144,4712144,NM_000335.5(SCN5A):c.3413del (p.Gly1138fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4712144,4712144,,,,unmatched
+3:38556493:A:T,SCN5A,VCV004681217,4681217,NM_000335.5(SCN5A):c.4382T>A (p.Leu1461Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4681217,4681217,Brugada syndrome 1|Cardiac arrhythmia,Brugada syndrome 1|Cardiac arrhythmia,Brugada syndrome 1|Cardiac arrhythmia,variation_id
+3:38562538:C:G,SCN5A,VCV004614942,4614942,NM_000335.5(SCN5A):c.3838-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4614942,4614942,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38608150:C:G,SCN5A,VCV004614940,4614940,NM_000335.5(SCN5A):c.998+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4614940,4614940,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38599038:C:A,SCN5A,VCV004614936,4614936,NM_000335.5(SCN5A):c.1903G>T (p.Glu635Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4614936,4614936,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38613756:T:TA,SCN5A,VCV004537605,4537605,NM_000335.5(SCN5A):c.689dup (p.Ser231fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4537605,4537605,,,,unmatched
+3:38556576:A:C,SCN5A,VCV004536358,4536358,NM_000335.5(SCN5A):c.4299T>G (p.Tyr1433Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4536358,4536358,,,,unmatched
+3:38606140:C:A,SCN5A,VCV004531893,4531893,NM_000335.5(SCN5A):c.1149G>T (p.Arg383Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4531893,4531893,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+3:38597749:TCTC:T,SCN5A,VCV004530664,4530664,NM_000335.5(SCN5A):c.2236GAG[1] (p.Glu747del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4530664,4530664,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+3:38585841:C:T,SCN5A,VCV004526988,4526988,NM_000335.5(SCN5A):c.2637G>A (p.Trp879Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4526988,4526988,,,,unmatched
+3:38620842:C:A,SCN5A,VCV004160653,4160653,NM_000335.5(SCN5A):c.611+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4160653,4160653,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38609896:CTG:C,SCN5A,VCV004160651,4160651,NM_000335.5(SCN5A):c.770_771del (p.Thr257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4160651,4160651,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38585897:A:AG,SCN5A,VCV004084973,4084973,NM_000335.5(SCN5A):c.2580dup (p.Phe861fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4084973,4084973,,,,unmatched
+3:38550472:G:A,SCN5A,VCV004082128,4082128,NM_000335.5(SCN5A):c.5897C>T (p.Ser1966Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4082128,4082128,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+3:38606687:C:G,SCN5A,VCV004071999,4071999,NM_000335.5(SCN5A):c.1122G>C (p.Trp374Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4071999,4071999,Sick sinus syndrome 1,Sick sinus syndrome 1,Sick sinus syndrome 1,variation_id
+3:38560422:C:A,SCN5A,VCV003898691,3898691,NM_000335.5(SCN5A):c.3967G>T (p.Val1323Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3898691,3898691,,,,unmatched
+3:38551118:AG:A,SCN5A,VCV003895188,3895188,NM_000335.5(SCN5A):c.5250del (p.Phe1751fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3895188,3895188,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38550902:GC:G,SCN5A,VCV003894898,3894898,NM_000335.5(SCN5A):c.5466del (p.Glu1822fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894898,3894898,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38606698:G:A,SCN5A,VCV003894008,3894008,NM_000335.5(SCN5A):c.1111C>T (p.Gln371Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3894008,3894008,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+3:38556500:A:AG,SCN5A,VCV003893711,3893711,NM_000335.5(SCN5A):c.4374dup (p.Phe1459fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3893711,3893711,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+3:38620885:CG:C,SCN5A,VCV003793221,3793221,NM_000335.5(SCN5A):c.568del (p.Arg190fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3793221,3793221,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38576677:CT:A,SCN5A,VCV003793218,3793218,NM_000335.5(SCN5A):c.3491_3492delinsT (p.Glu1164fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3793218,3793218,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38606773:C:A,SCN5A,VCV003778738,3778738,NM_000335.5(SCN5A):c.1036G>T (p.Glu346Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3778738,3778738,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+3:38585783:A:ACTCTC,SCN5A,VCV003773853,3773853,NM_000335.5(SCN5A):c.2690_2694dup (p.Trp899fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3773853,3773853,SCN5A-related disorder,SCN5A-related disorder,SCN5A-related disorder,variation_id
+3:38560424:AC:A,SCN5A,VCV003772281,3772281,NM_000335.5(SCN5A):c.3964del (p.Val1322fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3772281,3772281,,,,unmatched
+3:38581355:AG:A,SCN5A,VCV003766453,3766453,NM_000335.5(SCN5A):c.2803del (p.Leu935fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3766453,3766453,,,,unmatched
+3:38604795:T:TGA,SCN5A,VCV003730868,3730868,NM_000335.5(SCN5A):c.1450_1451dup (p.Gly485fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3730868,3730868,,,,unmatched
+3:38580981:C:A,SCN5A,VCV003729291,3729291,NM_000335.5(SCN5A):c.3178G>T (p.Glu1060Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3729291,3729291,,,,unmatched
+3:38555654:A:G,SCN5A,VCV003727847,3727847,NM_000335.5(SCN5A):c.4539+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3727847,3727847,,,,unmatched
+3:38551375:A:AG,SCN5A,VCV003723601,3723601,NM_000335.5(SCN5A):c.4993dup (p.Leu1665fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3723601,3723601,,,,unmatched
+3:38613831:G:C,SCN5A,VCV003723452,3723452,NM_000335.5(SCN5A):c.615C>G (p.Tyr205Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3723452,3723452,,,,unmatched
+3:38620958:C:CG,SCN5A,VCV003722844,3722844,NM_000335.5(SCN5A):c.495dup (p.Ala166fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3722844,3722844,,,,unmatched
+3:38562511:G:GT,SCN5A,VCV003722003,3722003,NM_000335.5(SCN5A):c.3863dup (p.Asn1288fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3722003,3722003,,,,unmatched
+3:38604029:TG:T,SCN5A,VCV003721680,3721680,NM_000335.5(SCN5A):c.1572del (p.Ser525fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3721680,3721680,,,,unmatched
+3:38556558:C:T,SCN5A,VCV003720482,3720482,NM_000335.5(SCN5A):c.4317G>A (p.Trp1439Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3720482,3720482,,,,unmatched
+3:38579495:G:A,SCN5A,VCV003699241,3699241,NM_001099404.2(SCN5A):c.3229C>T (p.Gln1077Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3699241,3699241,,,,unmatched
+3:38622468:CAT:C,SCN5A,VCV003668098,3668098,NM_000335.5(SCN5A):c.412_413del (p.Met138fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3668098,3668098,,,,unmatched
+3:38551233:C:T,SCN5A,VCV003663041,3663041,NM_000335.5(SCN5A):c.5136G>A (p.Trp1712Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3663041,3663041,,,,unmatched
+3:38562461:CG:C,SCN5A,VCV003662552,3662552,NM_000335.5(SCN5A):c.3913del (p.Arg1305fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3662552,3662552,,,,unmatched
+3:38576745:CT:C,SCN5A,VCV003661184,3661184,NM_000335.5(SCN5A):c.3423del (p.Asp1142fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3661184,3661184,,,,unmatched
+3:38550653:CCATGGCCGACACCTCTTCGTGCTTGCGCCGGAGTGTGGTGGTGATGGGCTCGTAGGAGATCTTGGATGGGTTGGCTGCCATGAACTTCTCCTCCATCTGGATCTTCAGGGCGTCCATCTCCCCAGACTCCCCCAGGACCCTTTTGGTGAAGGCAAAGAGAATGTCCATGCAATGGATGCGGTCCCCACTCACCATGGGCAGGTCCATGTTGATGAGGCTTATCTGGTTGGGCTTGGCGATACGGAGTGGCTCAGACAGGGCATCGGCAAAGTCAGACAGGACCGAATACTCAATAAACTGAGTGGCCTCTGGGTCAAATTTCTCCCAGATCTCATAGAACATATCGAAGTCGTCCTCACTCAGGGGCTCGGTGCTCTCCTCCGTGGCCACGCTGAAGTTCTCCAGGATGATGGCAATGTACATGTTGACCACGATGAGGAAGGAGATGATGATGTAGGTGGTGAAGAAGAGGATGCCCACGGCTGGGCTCCCGCAGTCCCCCCGAGAGCCATTGCTGTTGGGCAGAGTGGGGTCGCAGTAGGGCGGCCCAGTGTTGAGGATGGGG:C,SCN5A,VCV003660495,3660495,NM_000335.5(SCN5A):c.5151_5715del (p.Ser1717fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3660495,3660495,,,,unmatched
+3:38550980:A:AT,SCN5A,VCV003653975,3653975,NM_000335.5(SCN5A):c.5388_5389insA (p.Trp1797fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3653975,3653975,,,,unmatched
+3:38633076:C:A,SCN5A,VCV003649069,3649069,NM_000335.5(SCN5A):c.232G>T (p.Glu78Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3649069,3649069,,,,unmatched
+3:38550851:G:GC,SCN5A,VCV003645763,3645763,NM_000335.5(SCN5A):c.5517dup (p.Pro1840fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3645763,3645763,,,,unmatched
+3:38587574:C:G,SCN5A,VCV003644710,3644710,NM_000335.5(SCN5A):c.2263-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3644710,3644710,,,,unmatched
+3:38551094:A:AGGAGATGATGATGTAGGTGGTGAAGAAGAGGAGAT,SCN5A,VCV003642736,3642736,NM_000335.5(SCN5A):c.5274_5275insATCTCCTCTTCTTCACCACCTACATCATCATCTCC (p.Phe1759fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3642736,3642736,,,,unmatched
+3:38633069:AG:A,SCN5A,VCV003639026,3639026,NM_000335.5(SCN5A):c.238del (p.Leu80fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3639026,3639026,,,,unmatched
+3:38587399:C:G,SCN5A,VCV003633347,3633347,NM_000335.5(SCN5A):c.2436+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3633347,3633347,,,,unmatched
+3:38556531:A:C,SCN5A,VCV003600631,3600631,NM_000335.5(SCN5A):c.4344T>G (p.Tyr1448Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3600631,3600631,,,,unmatched
+3:38554311:A:C,SCN5A,VCV003544406,3544406,NM_000335.5(SCN5A):c.4778T>G (p.Phe1593Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3544406,3544406,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id
+3:38604025:CG:C,SCN5A,VCV003438263,3438263,NM_000335.5(SCN5A):c.1576del (p.Arg526fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3438263,3438263,Cardiovascular phenotype|Brugada syndrome 1,Cardiovascular phenotype|Brugada syndrome 1,Cardiovascular phenotype|Brugada syndrome 1,variation_id
+3:38587400:C:CAGGCG,SCN5A,VCV003385944,3385944,NM_000335.5(SCN5A):c.2431_2435dup (p.Leu813fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3385944,3385944,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38560288:CTCTG:C,SCN5A,VCV003385918,3385918,NM_000335.5(SCN5A):c.4097_4100del (p.Thr1366fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3385918,3385918,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38566505:A:C,SCN5A,VCV003383167,3383167,NM_000335.5(SCN5A):c.3741T>G (p.Tyr1247Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3383167,3383167,8 conditions,8 conditions,8 conditions,variation_id
+3:38581086:C:A,SCN5A,VCV003381870,3381870,NM_000335.5(SCN5A):c.3073G>T (p.Glu1025Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3381870,3381870,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+3:38606082:A:G,SCN5A,VCV003376929,3376929,NM_000335.5(SCN5A):c.1207T>C (p.Tyr403His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3376929,3376929,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id
+3:38603774:CT:C,SCN5A,VCV003367173,3367173,NM_000335.5(SCN5A):c.1827del (p.Glu610fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3367173,3367173,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38598975:GC:G,SCN5A,VCV003345326,3345326,NM_000335.5(SCN5A):c.1965del (p.Glu655fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3345326,3345326,SCN5A-related disorder,SCN5A-related disorder,SCN5A-related disorder,variation_id
+3:38598917:C:A,SCN5A,VCV003337556,3337556,NM_000335.5(SCN5A):c.2023+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3337556,3337556,,,,unmatched
+3:38566583:C:G,SCN5A,VCV003337555,3337555,NM_000335.5(SCN5A):c.3664-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3337555,3337555,,,,unmatched
+3:38557236:T:A,SCN5A,VCV003337551,3337551,NM_000335.5(SCN5A):c.4291A>T (p.Arg1431Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3337551,3337551,,,,unmatched
+3:38606784:A:AG,SCN5A,VCV003316598,3316598,NM_000335.5(SCN5A):c.1024dup (p.Leu342fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3316598,3316598,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38576776:TG:T,SCN5A,VCV003316597,3316597,NM_000335.5(SCN5A):c.3392del (p.Pro1131fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3316597,3316597,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38585883:G:C,SCN5A,VCV003316593,3316593,NM_000335.5(SCN5A):c.2595C>G (p.Tyr865Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3316593,3316593,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38620967:TG:T,SCN5A,VCV003252620,3252620,NM_000335.5(SCN5A):c.486del (p.Glu161_Tyr162insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3252620,3252620,,,,unmatched
+3:38587409:GGA:G,SCN5A,VCV003252218,3252218,NM_000335.5(SCN5A):c.2425_2426del (p.Ser809fs),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3252218,3252218,8 conditions,8 conditions,8 conditions,variation_id
+3:38575395:CCTTCCCTGGG:C,SCN5A,VCV003251141,3251141,NM_000335.5(SCN5A):c.3555_3564del (p.Pro1186fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3251141,3251141,,,,unmatched
+3:38613752:CTG:C,SCN5A,VCV003251122,3251122,NM_000335.5(SCN5A):c.692_693del (p.Ser231fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3251122,3251122,,,,unmatched
+3:38598963:G:A,SCN5A,VCV003248566,3248566,NM_000335.5(SCN5A):c.1978C>T (p.Gln660Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3248566,3248566,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+3:38604050:TC:T,SCN5A,VCV003238947,3238947,NM_000335.5(SCN5A):c.1551del (p.Thr518fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3238947,3238947,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+3:38585930:CGAT:C,SCN5A,VCV003236392,3236392,NM_000335.5(SCN5A):c.2542ATC[1] (p.Ile849del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3236392,3236392,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38599037:T:TC,SCN5A,VCV003229479,3229479,NM_000335.5(SCN5A):c.1903dup (p.Glu635fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3229479,3229479,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38581204:CA:C,SCN5A,VCV003076028,3076028,NM_000335.5(SCN5A):c.2954del (p.Leu985fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3076028,3076028,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38581186:CTT:C,SCN5A,VCV003075937,3075937,NM_000335.5(SCN5A):c.2971_2972del (p.Lys991fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3075937,3075937,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38550979:C:T,SCN5A,VCV003075757,3075757,NM_000335.5(SCN5A):c.5390G>A (p.Trp1797Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3075757,3075757,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38556481:AT:A,SCN5A,VCV003075755,3075755,NM_000335.5(SCN5A):c.4393del (p.Ile1465fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,3075755,3075755,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38580951:C:A,SCN5A,VCV003075752,3075752,NM_000335.5(SCN5A):c.3208G>T (p.Glu1070Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3075752,3075752,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38579447:TG:T,SCN5A,VCV003074416,3074416,NM_000335.5(SCN5A):c.3273del (p.Arg1092fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3074416,3074416,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id
+3:38597824:T:TG,SCN5A,VCV003073663,3073663,NM_000335.5(SCN5A):c.2166dup (p.Ile723fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3073663,3073663,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,variation_id
+3:38603902:AG:A,SCN5A,VCV003073053,3073053,NM_000335.5(SCN5A):c.1699del (p.Leu567fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3073053,3073053,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38554469:AT:A,SCN5A,VCV003071701,3071701,NM_000335.5(SCN5A):c.4619del (p.Asn1540fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3071701,3071701,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38560421:A:C,SCN5A,VCV003067128,3067128,NM_000335.5(SCN5A):c.3968T>G (p.Val1323Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3067128,3067128,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38556461:A:T,SCN5A,VCV003062283,3062283,NM_000335.5(SCN5A):c.4414T>A (p.Phe1472Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3062283,3062283,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,variation_id
+3:38603710:A:C,SCN5A,VCV003027437,3027437,NM_000335.5(SCN5A):c.1890+2T>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3027437,3027437,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id
+3:38606054:AC:A,SCN5A,VCV003024479,3024479,NM_000335.5(SCN5A):c.1234del (p.Val412fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3024479,3024479,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38581031:TC:T,SCN5A,VCV003001404,3001404,NM_000335.5(SCN5A):c.3127del (p.Glu1043fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3001404,3001404,,,,unmatched
+3:38606764:CG:C,SCN5A,VCV002910170,2910170,NM_000335.5(SCN5A):c.1044del (p.Asp349fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2910170,2910170,,,,unmatched
+3:38630309:A:C,SCN5A,VCV002862415,2862415,NM_000335.5(SCN5A):c.392+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2862415,2862415,,,,unmatched
+3:38581134:A:AG,SCN5A,VCV002861983,2861983,NM_000335.5(SCN5A):c.3024dup (p.Tyr1009fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2861983,2861983,,,,unmatched
+3:38579367:C:T,SCN5A,VCV002850091,2850091,NM_000335.5(SCN5A):c.3354G>A (p.Trp1118Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2850091,2850091,,,,unmatched
+3:38581152:TG:T,SCN5A,VCV002846167,2846167,NM_000335.5(SCN5A):c.3006del (p.Ser1003fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2846167,2846167,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),variation_id
+3:38550951:C:CT,SCN5A,VCV002834047,2834047,NM_000335.5(SCN5A):c.5417dup (p.Phe1807fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2834047,2834047,,,,unmatched
+3:38586042:C:G,SCN5A,VCV002831276,2831276,NM_000335.5(SCN5A):c.2437-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2831276,2831276,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38622423:AG:A,SCN5A,VCV002829409,2829409,NM_000335.5(SCN5A):c.458del (p.Pro153fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2829409,2829409,,,,unmatched
+3:38551299:CAT:C,SCN5A,VCV002820677,2820677,NM_000335.5(SCN5A):c.5068_5069del (p.Met1690fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2820677,2820677,,,,unmatched
+3:38566552:T:A,SCN5A,VCV002818735,2818735,NM_000335.5(SCN5A):c.3694A>T (p.Lys1232Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2818735,2818735,,,,unmatched
+3:38555657:A:AG,SCN5A,VCV002817837,2817837,NM_000335.5(SCN5A):c.4537dup (p.Leu1513fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2817837,2817837,,,,unmatched
+3:38587499:CT:C,SCN5A,VCV002798618,2798618,NM_000335.5(SCN5A):c.2336del (p.Gln779fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2798618,2798618,,,,unmatched
+3:38604785:C:A,SCN5A,VCV002774482,2774482,NM_000335.5(SCN5A):c.1462G>T (p.Glu488Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2774482,2774482,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,variation_id
+3:38604761:TGGGG:CAGA,SCN5A,VCV002774480,2774480,NM_000335.5(SCN5A):c.1482_1486delinsTCTG (p.Pro495fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2774480,2774480,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,variation_id
+3:38581002:C:A,SCN5A,VCV002774462,2774462,NM_000335.5(SCN5A):c.3157G>T (p.Glu1053Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2774462,2774462,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+3:38576660:C:A,SCN5A,VCV002774456,2774456,NM_000335.5(SCN5A):c.3508+1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2774456,2774456,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+3:38556549:GT:G,SCN5A,VCV002774447,2774447,NM_000335.5(SCN5A):c.4325del (p.Asn1442fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2774447,2774447,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,variation_id
+3:38581271:AG:A,SCN5A,VCV002767841,2767841,NM_000335.5(SCN5A):c.2887del (p.Leu963fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2767841,2767841,,,,unmatched
+3:38622407:AC:A,SCN5A,VCV002767035,2767035,NM_000335.5(SCN5A):c.474del (p.Lys158fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2767035,2767035,,,,unmatched
+3:38585881:G:T,SCN5A,VCV002764562,2764562,NM_000335.5(SCN5A):c.2597C>A (p.Ser866Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2764562,2764562,,,,unmatched
+3:38576660:C:G,SCN5A,VCV002764009,2764009,NM_000335.5(SCN5A):c.3508+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2764009,2764009,,,,unmatched
+3:38606062:CAG:C,SCN5A,VCV002754673,2754673,NM_000335.5(SCN5A):c.1225_1226del (p.Leu409fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2754673,2754673,,,,unmatched
+3:38554540:G:A,SCN5A,VCV002750658,2750658,NM_000335.5(SCN5A):c.4549C>T (p.Gln1517Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2750658,2750658,,,,unmatched
+3:38576675:TC:T,SCN5A,VCV002749678,2749678,NM_000335.5(SCN5A):c.3493del (p.Asp1165fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2749678,2749678,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38566430:C:T,SCN5A,VCV002739542,2739542,NM_000335.5(SCN5A):c.3816G>A (p.Trp1272Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2739542,2739542,,,,unmatched
+3:38581041:CG:C,SCN5A,VCV002733575,2733575,NM_000335.5(SCN5A):c.3117del (p.Asp1041fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2733575,2733575,,,,unmatched
+3:38609952:A:G,SCN5A,VCV002728351,2728351,NM_000335.5(SCN5A):c.716T>C (p.Ile239Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2728351,2728351,,,,unmatched
+3:38606750:G:GGTGTAGCC,SCN5A,VCV002719420,2719420,NM_000335.5(SCN5A):c.1051_1058dup (p.Ser354fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2719420,2719420,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38551073:AC:A,SCN5A,VCV002713386,2713386,NM_000335.5(SCN5A):c.5295del (p.Met1765fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2713386,2713386,,,,unmatched
+3:38557256:A:AT,SCN5A,VCV002708294,2708294,NM_000335.5(SCN5A):c.4270dup (p.Met1424fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2708294,2708294,,,,unmatched
+3:38566436:C:T,SCN5A,VCV002705691,2705691,NM_000335.5(SCN5A):c.3810G>A (p.Trp1270Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2705691,2705691,,,,unmatched
+3:38599043:GGCGT:G,SCN5A,VCV002587163,2587163,NM_000335.5(SCN5A):c.1894_1897del (p.Thr632fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2587163,2587163,Cardiovascular phenotype||Brugada syndrome,Cardiovascular phenotype||Brugada syndrome,Cardiovascular phenotype||Brugada syndrome,variation_id
+3:38585801:G:T,SCN5A,VCV002582527,2582527,NM_000335.5(SCN5A):c.2677C>A (p.Arg893Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2582527,2582527,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+3:38620950:G:T,SCN5A,VCV002574114,2574114,NM_000335.5(SCN5A):c.504C>A (p.Tyr168Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2574114,2574114,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,variation_id
+3:38576782:C:G,SCN5A,VCV002574113,2574113,NM_000335.5(SCN5A):c.3388-1G>C,Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2574113,2574113,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,variation_id
+3:38576710:GA:G,SCN5A,VCV002567176,2567176,NM_000335.5(SCN5A):c.3458del (p.Ile1153fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2567176,2567176,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38597909:G:T,SCN5A,VCV002567171,2567171,NM_000335.5(SCN5A):c.2082C>A (p.Tyr694Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2567171,2567171,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38560146:C:A,SCN5A,VCV002567167,2567167,NM_000335.5(SCN5A):c.4242+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2567167,2567167,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38560208:C:T,SCN5A,VCV002506126,2506126,NM_000335.5(SCN5A):c.4181G>A (p.Trp1394Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2506126,2506126,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+3:38620925:G:GA,SCN5A,VCV002505150,2505150,NM_000335.5(SCN5A):c.528dup (p.Leu177fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2505150,2505150,Primary dilated cardiomyopathy,Primary dilated cardiomyopathy,Primary dilated cardiomyopathy,variation_id
+3:38585891:T:A,SCN5A,VCV002498925,2498925,NM_000335.5(SCN5A):c.2587A>T (p.Lys863Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2498925,2498925,,,,unmatched
+3:38609828:G:T,SCN5A,VCV002444515,2444515,NM_000335.5(SCN5A):c.840C>A (p.Cys280Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2444515,2444515,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+3:38613772:C:G,SCN5A,VCV002203341,2203341,NM_000335.5(SCN5A):c.674G>C (p.Arg225Pro),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2203341,2203341,,,,unmatched
+3:38604830:C:A,SCN5A,VCV002203340,2203340,NM_000335.5(SCN5A):c.1417G>T (p.Glu473Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2203340,2203340,,,,unmatched
+3:38585996:G:A,SCN5A,VCV002203339,2203339,NM_000335.5(SCN5A):c.2482C>T (p.Leu828Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2203339,2203339,,,,unmatched
+3:38585936:TG:T,SCN5A,VCV002203338,2203338,NM_000335.5(SCN5A):c.2541del (p.Ile848fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2203338,2203338,,,,unmatched
+3:38581358:AAG:A,SCN5A,VCV002203337,2203337,NM_000335.5(SCN5A):c.2799_2800del (p.Phe934fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2203337,2203337,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38554319:C:T,SCN5A,VCV002203335,2203335,NM_000335.5(SCN5A):c.4770G>A (p.Trp1590Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2203335,2203335,,,,unmatched
+3:38608215:C:T,SCN5A,VCV002126186,2126186,NM_000335.5(SCN5A):c.935-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2126186,2126186,,,,unmatched
+3:38551089:GAGGA:G,SCN5A,VCV002124520,2124520,NM_000335.5(SCN5A):c.5276_5279del (p.Phe1759fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2124520,2124520,,,,unmatched
+3:38556446:T:A,SCN5A,VCV002114785,2114785,NM_000335.5(SCN5A):c.4429A>T (p.Lys1477Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2114785,2114785,,,,unmatched
+3:38603949:CG:C,SCN5A,VCV002113775,2113775,NM_000335.5(SCN5A):c.1652del (p.Ala551fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2113775,2113775,,,,unmatched
+3:38562483:T:TG,SCN5A,VCV002107269,2107269,NM_000335.5(SCN5A):c.3891dup (p.Ile1298fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2107269,2107269,,,,unmatched
+3:38598994:A:T,SCN5A,VCV002107170,2107170,NM_000335.5(SCN5A):c.1947T>A (p.Cys649Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2107170,2107170,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+3:38551532:TC:T,SCN5A,VCV002106626,2106626,NM_000335.5(SCN5A):c.4836del (p.Lys1613fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2106626,2106626,,,,unmatched
+3:38575375:CT:C,SCN5A,VCV002100770,2100770,NM_000335.5(SCN5A):c.3584del (p.Lys1195fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2100770,2100770,,,,unmatched
+3:38551234:C:T,SCN5A,VCV002094285,2094285,NM_000335.5(SCN5A):c.5135G>A (p.Trp1712Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,2094285,2094285,,,,unmatched
+3:38562539:T:A,SCN5A,VCV002088946,2088946,NM_000335.5(SCN5A):c.3838-2A>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2088946,2088946,,,,unmatched
+3:38587511:G:C,SCN5A,VCV002069900,2069900,NM_000335.5(SCN5A):c.2325C>G (p.Tyr775Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2069900,2069900,,,,unmatched
+3:38608216:T:C,SCN5A,VCV002057896,2057896,NM_000335.5(SCN5A):c.935-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2057896,2057896,,,,unmatched
+3:38606042:TA:T,SCN5A,VCV002039747,2039747,NM_000335.5(SCN5A):c.1246del (p.Tyr416fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2039747,2039747,,,,unmatched
+3:38620857:AC:A,SCN5A,VCV002036709,2036709,NM_000335.5(SCN5A):c.596del (p.Ser199fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2036709,2036709,,,,unmatched
+3:38605976:ATGGCCTCC:A,SCN5A,VCV002031437,2031437,NM_000335.5(SCN5A):c.1305_1312del (p.Gln435fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2031437,2031437,,,,unmatched
+3:38551074:C:G,SCN5A,VCV002027600,2027600,NM_000335.5(SCN5A):c.5295G>C (p.Met1765Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2027600,2027600,,,,unmatched
+3:38633101:GC:G,SCN5A,VCV002027105,2027105,NM_000335.5(SCN5A):c.206del (p.Gly69fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2027105,2027105,,,,unmatched
+3:38562414:C:A,SCN5A,VCV002026498,2026498,NM_000335.5(SCN5A):c.3960+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2026498,2026498,,,,unmatched
+3:38585766:C:T,SCN5A,VCV002016715,2016715,NM_000335.5(SCN5A):c.2712G>A (p.Trp904Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2016715,2016715,,,,unmatched
+3:38555656:C:CA,SCN5A,VCV002016359,2016359,NM_000335.5(SCN5A):c.4538dup (p.Asn1514fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2016359,2016359,,,,unmatched
+3:38630430:CTGGGGACA:C,SCN5A,VCV002011754,2011754,NM_000335.5(SCN5A):c.274-9_274-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2011754,2011754,,,,unmatched
+3:38580930:C:G,SCN5A,VCV001937049,1937049,NM_000335.5(SCN5A):c.3228+1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1937049,1937049,,,,unmatched
+3:38633203:G:GC,SCN5A,VCV001803812,1803812,NM_000335.5(SCN5A):c.104dup (p.Ser36fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1803812,1803812,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+3:38581161:G:A,SCN5A,VCV001798592,1798592,NM_000335.5(SCN5A):c.2998C>T (p.Gln1000Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1798592,1798592,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38581372:CT:C,SCN5A,VCV001795999,1795999,NM_000335.5(SCN5A):c.2788-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1795999,1795999,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38585957:TC:T,SCN5A,VCV001792542,1792542,NM_000335.5(SCN5A):c.2520del (p.Asn841fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1792542,1792542,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38597737:C:G,SCN5A,VCV001788496,1788496,NM_000335.5(SCN5A):c.2254G>C (p.Gly752Arg),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1788496,1788496,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38603923:G:C,SCN5A,VCV001777850,1777850,NM_000335.5(SCN5A):c.1679C>G (p.Ser560Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1777850,1777850,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38604785:C:CCT,SCN5A,VCV001773144,1773144,NM_000335.5(SCN5A):c.1460_1461dup (p.Glu488fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1773144,1773144,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38633214:G:A,SCN5A,VCV001767167,1767167,NM_000335.5(SCN5A):c.94C>T (p.Gln32Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1767167,1767167,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38606058:CG:C,SCN5A,VCV001755450,1755450,NM_000335.5(SCN5A):c.1230del (p.Val411fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1755450,1755450,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38633267:CG:C,SCN5A,VCV001737836,1737836,NM_000335.5(SCN5A):c.40del (p.Arg14fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1737836,1737836,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38566552:TC:T,SCN5A,VCV001733997,1733997,NM_000335.5(SCN5A):c.3693del (p.Lys1232fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1733997,1733997,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38579379:C:T,SCN5A,VCV001730458,1730458,NM_000335.5(SCN5A):c.3342G>A (p.Trp1114Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1730458,1730458,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38579440:C:T,SCN5A,VCV001729777,1729777,NM_000335.5(SCN5A):c.3281G>A (p.Trp1094Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1729777,1729777,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38633133:G:A,SCN5A,VCV001691761,1691761,NM_000335.5(SCN5A):c.175C>T (p.Gln59Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1691761,1691761,Brugada syndrome 1|Brugada syndrome,Brugada syndrome 1|Brugada syndrome,Brugada syndrome 1|Brugada syndrome,variation_id
+3:38575310:C:A,SCN5A,VCV001691220,1691220,NM_000335.5(SCN5A):c.3650G>T (p.Ser1217Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1691220,1691220,,,,unmatched
+3:38581062:G:A,SCN5A,VCV001678156,1678156,NM_000335.5(SCN5A):c.3097C>T (p.Gln1033Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1678156,1678156,,,,unmatched
+3:38562426:C:A,SCN5A,VCV001678123,1678123,NM_000335.5(SCN5A):c.3949G>T (p.Glu1317Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1678123,1678123,,,,unmatched
+3:38585800:C:A,SCN5A,VCV001527869,1527869,NM_000335.5(SCN5A):c.2678G>T (p.Arg893Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1527869,1527869,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+3:38606150:T:C,SCN5A,VCV001521971,1521971,NM_000335.5(SCN5A):c.1141-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1521971,1521971,,,,unmatched
+3:38575295:A:G,SCN5A,VCV001510225,1510225,NM_000335.5(SCN5A):c.3663+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1510225,1510225,,,,unmatched
+3:38576782:C:T,SCN5A,VCV001502792,1502792,NM_000335.5(SCN5A):c.3388-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1502792,1502792,,,,unmatched
+3:38606667:A:C,SCN5A,VCV001502060,1502060,NM_000335.5(SCN5A):c.1140+2T>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1502060,1502060,,,,unmatched
+3:38633040:G:A,SCN5A,VCV001460043,1460043,NM_000335.5(SCN5A):c.268C>T (p.Gln90Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1460043,1460043,,,,unmatched
+3:38580984:G:A,SCN5A,VCV001458577,1458577,NM_000335.5(SCN5A):c.3175C>T (p.Gln1059Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1458577,1458577,,,,unmatched
+3:38575387:C:T,SCN5A,VCV001458575,1458575,NM_000335.5(SCN5A):c.3573G>A (p.Trp1191Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1458575,1458575,,,,unmatched
+3:38622396:TCACTCGACATA:T,SCN5A,VCV001455926,1455926,NM_000335.5(SCN5A):c.475_482+3del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1455926,1455926,,,,unmatched
+3:38581132:G:T,SCN5A,VCV001455755,1455755,NM_000335.5(SCN5A):c.3027C>A (p.Tyr1009Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1455755,1455755,,,,unmatched
+3:38604046:GA:G,SCN5A,VCV001455694,1455694,NM_000335.5(SCN5A):c.1555del (p.Ser519fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1455694,1455694,,,,unmatched
+3:38597900:C:T,SCN5A,VCV001454071,1454071,NM_000335.5(SCN5A):c.2091G>A (p.Trp697Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1454071,1454071,,,,unmatched
+3:38550922:AAGTC:A,SCN5A,VCV001452285,1452285,NM_000335.5(SCN5A):c.5443_5446del (p.Asp1815fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1452285,1452285,,,,unmatched
+3:38556501:GA:G,SCN5A,VCV001451878,1451878,NM_000335.5(SCN5A):c.4373del (p.Phe1458fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1451878,1451878,,,,unmatched
+3:38555697:GCTT:G,SCN5A,VCV001449654,1449654,NM_000335.5(SCN5A):c.4492AAG[1] (p.Lys1499del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1449654,1449654,,,,unmatched
+3:38556451:TGTTG:T,SCN5A,VCV001434817,1434817,NM_000335.5(SCN5A):c.4420_4423del (p.Gln1474fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1434817,1434817,,,,unmatched
+3:38633091:G:A,SCN5A,VCV001408176,1408176,NM_000335.5(SCN5A):c.217C>T (p.Gln73Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1408176,1408176,Cardiovascular phenotype|Brugada syndrome (shorter-than-normal QT interval),Cardiovascular phenotype|Brugada syndrome (shorter-than-normal QT interval),Cardiovascular phenotype|Brugada syndrome (shorter-than-normal QT interval),variation_id
+3:38604794:CT:C,SCN5A,VCV001406093,1406093,NM_000335.5(SCN5A):c.1452del (p.Gly485fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1406093,1406093,,,,unmatched
+3:38581116:CTG:C,SCN5A,VCV001392890,1392890,NM_000335.5(SCN5A):c.3041_3042del (p.Pro1014fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1392890,1392890,,,,unmatched
+3:38585944:A:AC,SCN5A,VCV001386100,1386100,NM_000335.5(SCN5A):c.2533dup (p.Val845fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1386100,1386100,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38620876:C:T,SCN5A,VCV001374462,1374462,NM_000335.5(SCN5A):c.578G>A (p.Trp193Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1374462,1374462,,,,unmatched
+3:38604012:GA:G,SCN5A,VCV001361908,1361908,NM_000335.5(SCN5A):c.1589del (p.Phe530fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1361908,1361908,,,,unmatched
+3:38606811:C:T,SCN5A,VCV001348900,1348900,NM_000335.5(SCN5A):c.999-1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1348900,1348900,Cardiovascular phenotype||Familial sick sinus syndrome,Cardiovascular phenotype||Familial sick sinus syndrome,Cardiovascular phenotype||Familial sick sinus syndrome,variation_id
+3:38613742:C:G,SCN5A,VCV001345786,1345786,NM_000335.5(SCN5A):c.703+1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1345786,1345786,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+3:38554274:C:T,SCN5A,VCV001326912,1326912,NM_000335.5(SCN5A):c.4810+5G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1326912,1326912,Brugada syndrome|Brugada syndrome 1,Brugada syndrome|Brugada syndrome 1,Brugada syndrome|Brugada syndrome 1,variation_id
+3:38608217:G:C,SCN5A,VCV001326908,1326908,NM_000335.5(SCN5A):c.935-3C>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1326908,1326908,Brugada syndrome|Brugada syndrome 1,Brugada syndrome|Brugada syndrome 1,Brugada syndrome|Brugada syndrome 1,variation_id
+3:38566425:T:C,SCN5A,VCV001326907,1326907,NM_000335.5(SCN5A):c.3821A>G (p.Asp1274Gly),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1326907,1326907,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38556561:C:CT,SCN5A,VCV001299249,1299249,NM_000335.5(SCN5A):c.4313dup (p.Trp1439fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1299249,1299249,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38587515:TA:T,SCN5A,VCV001285130,1285130,NM_000335.5(SCN5A):c.2320del (p.Tyr774fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1285130,1285130,,,,unmatched
+3:38551459:C:A,SCN5A,VCV001188516,1188516,NM_000335.5(SCN5A):c.4910G>T (p.Arg1637Leu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1188516,1188516,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id
+3:38597761:C:A,SCN5A,VCV001187556,1187556,NM_000335.5(SCN5A):c.2230G>T (p.Glu744Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1187556,1187556,,,,unmatched
+3:38566483:GC:G,SCN5A,VCV001185878,1185878,NM_000335.5(SCN5A):c.3762del (p.Leu1255fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1185878,1185878,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id
+3:38609855:G:GAGCT,SCN5A,VCV001184975,1184975,NM_000335.5(SCN5A):c.809_812dup (p.Phe272fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1184975,1184975,,,,unmatched
+3:38581004:GC:G,SCN5A,VCV001076640,1076640,NM_000335.5(SCN5A):c.3154del (p.Ala1052fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1076640,1076640,,,,unmatched
+3:38576775:C:A,SCN5A,VCV001076635,1076635,NM_000335.5(SCN5A):c.3394G>T (p.Glu1132Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1076635,1076635,,,,unmatched
+3:38566487:CA:C,SCN5A,VCV001076515,1076515,NM_000335.5(SCN5A):c.3758del (p.Met1253fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1076515,1076515,,,,unmatched
+3:38609766:CA:C,SCN5A,VCV001076513,1076513,NM_000335.5(SCN5A):c.901del (p.Trp301fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1076513,1076513,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38551532:T:A,SCN5A,VCV001075437,1075437,NM_000335.5(SCN5A):c.4837A>T (p.Lys1613Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,1075437,1075437,,,,unmatched
+3:38560303:GC:G,SCN5A,VCV001073809,1073809,NM_000335.5(SCN5A):c.4085del (p.Cys1362fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1073809,1073809,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38556554:A:AT,SCN5A,VCV001073629,1073629,NM_000335.5(SCN5A):c.4320dup (p.Tyr1441fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1073629,1073629,,,,unmatched
+3:38585860:G:C,SCN5A,VCV001072446,1072446,NM_000335.5(SCN5A):c.2618C>G (p.Ser873Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1072446,1072446,,,,unmatched
+3:38630368:T:TA,SCN5A,VCV001071777,1071777,NM_000335.5(SCN5A):c.334dup (p.Tyr112fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1071777,1071777,,,,unmatched
+3:38581107:T:A,SCN5A,VCV001069115,1069115,NM_000335.5(SCN5A):c.3052A>T (p.Lys1018Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1069115,1069115,,,,unmatched
+3:38557230:C:A,SCN5A,VCV001068181,1068181,NM_000335.5(SCN5A):c.4296+1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1068181,1068181,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38597968:C:T,SCN5A,VCV001067586,1067586,NM_000335.5(SCN5A):c.2024-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1067586,1067586,,,,unmatched
+3:38560428:C:A,SCN5A,VCV001066010,1066010,NM_000335.5(SCN5A):c.3961G>T (p.Val1321Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1066010,1066010,,,,unmatched
+3:38557232:CCCCTGGAGTCCACAGCTGCATACATAATGT:C,SCN5A,VCV001012143,1012143,NM_000335.5(SCN5A):c.4265_4294del (p.Asp1422_Arg1431del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1012143,1012143,,,,unmatched
+3:38633253:C:A,SCN5A,VCV000988404,988404,NM_000335.5(SCN5A):c.55G>T (p.Glu19Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,988404,988404,,,,unmatched
+3:38554550:C:A,SCN5A,VCV000987436,987436,NM_000335.5(SCN5A):c.4540-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,987436,987436,,,,unmatched
+3:38613835:C:T,SCN5A,VCV000984516,984516,NM_000335.5(SCN5A):c.612-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,984516,984516,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),variation_id
+3:38550925:TCAGA:T,SCN5A,VCV000984492,984492,NM_000335.5(SCN5A):c.5440_5443del (p.Ser1814fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,984492,984492,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+3:38585689:A:T,SCN5A,VCV000979203,979203,NM_000335.5(SCN5A):c.2787+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,979203,979203,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+3:38587500:TG:T,SCN5A,VCV000979075,979075,NM_000335.5(SCN5A):c.2335del (p.Gln779fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,979075,979075,Long QT syndrome 3;Brugada syndrome 1,Long QT syndrome 3;Brugada syndrome 1,Long QT syndrome 3;Brugada syndrome 1,variation_id
+3:38585996:G:C,SCN5A,VCV000978725,978725,NM_000335.5(SCN5A):c.2482C>G (p.Leu828Val),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,978725,978725,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id
+3:38606091:C:A,SCN5A,VCV000972696,972696,NM_000335.5(SCN5A):c.1198G>T (p.Gly400Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,972696,972696,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+3:38598978:C:A,SCN5A,VCV000972691,972691,NM_000335.5(SCN5A):c.1963G>T (p.Glu655Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,972691,972691,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+3:38585901:CT:C,SCN5A,VCV000970218,970218,NM_000335.5(SCN5A):c.2576del (p.Gln859fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,970218,970218,,,,unmatched
+3:38581298:CT:C,SCN5A,VCV000961103,961103,NM_000335.5(SCN5A):c.2860del (p.Arg954fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,961103,961103,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38633176:CT:C,SCN5A,VCV000956404,956404,NM_000335.5(SCN5A):c.131del (p.Glu44fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,956404,956404,,,,unmatched
+3:38560264:G:GGT,SCN5A,VCV000952177,952177,NM_000335.5(SCN5A):c.4123_4124dup (p.Ile1376fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,952177,952177,,,,unmatched
+3:38581117:T:TGGGGGTGGCGGGGAGTA,SCN5A,VCV000944678,944678,NM_000335.5(SCN5A):c.3025_3041dup (p.Glu1015fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,944678,944678,,,,unmatched
+3:38620865:C:G,SCN5A,VCV000942054,942054,NM_000335.5(SCN5A):c.589G>C (p.Asp197His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,942054,942054,,,,unmatched
+3:38581343:A:G,SCN5A,VCV000940929,940929,NM_000335.5(SCN5A):c.2816T>C (p.Leu939Pro),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,940929,940929,,,,unmatched
+3:38613743:CT:C,SCN5A,VCV000937538,937538,NM_000335.5(SCN5A):c.702del (p.Gly235_Leu236insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,937538,937538,,,,unmatched
+3:38606062:C:CTATG,SCN5A,VCV000936474,936474,NM_000335.5(SCN5A):c.1226_1227insCATA (p.Ala410fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,936474,936474,,,,unmatched
+3:38633118:GC:G,SCN5A,VCV000928434,928434,NM_000335.5(SCN5A):c.189del (p.Lys63fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,928434,928434,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+3:38551050:GT:G,SCN5A,VCV000927104,927104,NM_000335.5(SCN5A):c.5318del (p.Asn1773fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,927104,927104,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id
+3:38562413:A:ACCCTCATG,SCN5A,VCV000927012,927012,NM_000335.5(SCN5A):c.3954_3960+1dup,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,splice_or_intronic,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,927012,927012,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,variation_id
+3:38562476:GA:G,SCN5A,VCV000917995,917995,NM_000335.5(SCN5A):c.3898del (p.Ser1300fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,917995,917995,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38585735:AT:A,SCN5A,VCV000863801,863801,NM_000335.5(SCN5A):c.2742del (p.Leu914fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,863801,863801,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38562529:CAG:C,SCN5A,VCV000858385,858385,NM_000335.5(SCN5A):c.3844_3845del (p.Leu1282fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,858385,858385,,,,unmatched
+3:38550877:TG:T,SCN5A,VCV000856890,856890,NM_000335.5(SCN5A):c.5491del (p.Gln1831fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,856890,856890,,,,unmatched
+3:38550990:GA:G,SCN5A,VCV000853346,853346,NM_000335.5(SCN5A):c.5378del (p.Phe1793fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,853346,853346,,,,unmatched
+3:38620877:AT:A,SCN5A,VCV000851951,851951,NM_000335.5(SCN5A):c.576del (p.Trp193fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,851951,851951,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38587575:T:C,SCN5A,VCV000851217,851217,NM_000335.5(SCN5A):c.2263-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,851217,851217,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,variation_id
+3:38622405:A:C,SCN5A,VCV000850294,850294,NM_000335.5(SCN5A):c.477T>G (p.Tyr159Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,850294,850294,,,,unmatched
+3:38633190:G:A,SCN5A,VCV000848941,848941,NM_000335.5(SCN5A):c.118C>T (p.Gln40Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,848941,848941,,,,unmatched
+3:38560209:AG:A,SCN5A,VCV000848007,848007,NM_000335.5(SCN5A):c.4179del (p.Trp1394fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,848007,848007,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38575452:C:T,SCN5A,VCV000847226,847226,NM_000335.5(SCN5A):c.3509-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,847226,847226,,,,unmatched
+3:38581258:CT:C,SCN5A,VCV000845474,845474,NM_000335.5(SCN5A):c.2900del (p.Gln967fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,845474,845474,,,,unmatched
+3:38606705:CA:C,SCN5A,VCV000844438,844438,NM_000335.5(SCN5A):c.1103del (p.Leu368fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,844438,844438,,,,unmatched
+3:38554381:A:G,SCN5A,VCV000830371,830371,NM_000335.5(SCN5A):c.4708T>C (p.Phe1570Leu),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,exact_match_without_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,830371,830371,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38562436:CAG:C,SCN5A,VCV000817608,817608,NM_000335.5(SCN5A):c.3937_3938del (p.Leu1313fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,817608,817608,,,,unmatched
+3:38603945:C:A,SCN5A,VCV000811838,811838,NM_000335.5(SCN5A):c.1657G>T (p.Glu553Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,811838,811838,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38576715:G:A,SCN5A,VCV000801959,801959,NM_000335.5(SCN5A):c.3454C>T (p.Gln1152Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,801959,801959,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+3:38554372:C:A,SCN5A,VCV000691966,691966,NM_000335.5(SCN5A):c.4717G>T (p.Glu1573Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,691966,691966,Brugada syndrome 1|Cardiac arrhythmia|Brugada syndrome,Brugada syndrome 1|Cardiac arrhythmia|Brugada syndrome,Brugada syndrome 1|Cardiac arrhythmia|Brugada syndrome,variation_id
+3:38557229:A:AC,SCN5A,VCV000691705,691705,NM_000335.5(SCN5A):c.4296+1dup,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,691705,691705,Ventricular tachycardia,Ventricular tachycardia,Ventricular tachycardia,variation_id
+3:38551515:CG:C,SCN5A,VCV000689494,689494,NM_000335.5(SCN5A):c.4853del (p.Pro1618fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,689494,689494,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+3:38557286:T:C,SCN5A,VCV000667016,667016,NM_000335.5(SCN5A):c.4243-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,667016,667016,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38575390:C:T,SCN5A,VCV000660776,660776,NM_000335.5(SCN5A):c.3570G>A (p.Trp1190Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,660776,660776,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38587537:T:TG,SCN5A,VCV000654856,654856,NM_000335.5(SCN5A):c.2298dup (p.Lys767fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,654856,654856,,,,unmatched
+3:38606674:G:A,SCN5A,VCV000641344,641344,NM_000335.5(SCN5A):c.1135C>T (p.Gln379Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,641344,641344,,,,unmatched
+3:38555735:G:T,SCN5A,VCV000637991,637991,NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,637991,637991,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id
+3:38606743:C:A,SCN5A,VCV000637989,637989,NM_000335.5(SCN5A):c.1066G>T (p.Asp356Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,637989,637989,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+3:38581213:A:T,SCN5A,VCV000633410,633410,NM_000335.5(SCN5A):c.2946T>A (p.Cys982Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,633410,633410,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),variation_id
+3:38566565:G:C,SCN5A,VCV000632980,632980,NM_000335.5(SCN5A):c.3681C>G (p.Tyr1227Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,632980,632980,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),variation_id
+3:38556566:G:A,SCN5A,VCV000598785,598785,NM_000335.5(SCN5A):c.4309C>T (p.Pro1437Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,598785,598785,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+3:38622447:G:T,SCN5A,VCV000598784,598784,NM_000335.5(SCN5A):c.435C>A (p.Cys145Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,598784,598784,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+3:38550986:C:A,SCN5A,VCV000583354,583354,NM_000335.5(SCN5A):c.5383G>T (p.Glu1795Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,583354,583354,,,,unmatched
+3:38554434:CT:C,SCN5A,VCV000582177,582177,NM_000335.5(SCN5A):c.4654del (p.Ser1552fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,582177,582177,,,,unmatched
+3:38555665:T:TGGG,SCN5A,VCV000581866,581866,NM_000335.5(SCN5A):c.4527_4529dup (p.Pro1510dup),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,581866,581866,,,,unmatched
+3:38550986:CAT:C,SCN5A,VCV000579734,579734,NM_000335.5(SCN5A):c.5381_5382del (p.Phe1793_Tyr1794insTer),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,579734,579734,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38550773:C:A,SCN5A,VCV000572957,572957,NM_000335.5(SCN5A):c.5596G>T (p.Glu1866Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,572957,572957,,,,unmatched
+3:38551007:CCTCA:C,SCN5A,VCV000572252,572252,NM_000335.5(SCN5A):c.5358_5361del (p.Ser1786fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,572252,572252,,,,unmatched
+3:38609920:G:C,SCN5A,VCV000572011,572011,NM_000335.5(SCN5A):c.748C>G (p.Leu250Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,572011,572011,,,,unmatched
+3:38551093:A:C,SCN5A,VCV000571408,571408,NM_000335.5(SCN5A):c.5276T>G (p.Phe1759Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,571408,571408,,,,unmatched
+3:38555727:G:A,SCN5A,VCV000560692,560692,NM_000335.5(SCN5A):c.4468C>T (p.Gln1490Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,560692,560692,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+3:38603988:AC:A,SCN5A,VCV000523568,523568,NM_000335.5(SCN5A):c.1613del (p.Gly538fs),Pathogenic/Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,523568,523568,Sick sinus syndrome 1|Cardiac arrhythmia,Sick sinus syndrome 1|Cardiac arrhythmia,Sick sinus syndrome 1|Cardiac arrhythmia,variation_id
+3:38581191:G:A,SCN5A,VCV000520461,520461,NM_000335.5(SCN5A):c.2968C>T (p.Gln990Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,520461,520461,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38566437:C:T,SCN5A,VCV000519554,519554,NM_000335.5(SCN5A):c.3809G>A (p.Trp1270Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519554,519554,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38579461:GC:G,SCN5A,VCV000519464,519464,NM_000335.5(SCN5A):c.3259del (p.Ala1087fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519464,519464,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38598917:C:T,SCN5A,VCV000519460,519460,NM_000335.5(SCN5A):c.2023+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519460,519460,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38556493:AG:A,SCN5A,VCV000519429,519429,NM_000335.5(SCN5A):c.4381del (p.Thr1460_Leu1461insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519429,519429,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38551074:C:T,SCN5A,VCV000519384,519384,NM_000335.5(SCN5A):c.5295G>A (p.Met1765Ile),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519384,519384,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38586012:C:T,SCN5A,VCV000505895,505895,NM_000335.5(SCN5A):c.2466G>A (p.Trp822Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,505895,505895,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38609966:T:C,SCN5A,VCV000505834,505834,NM_000335.5(SCN5A):c.704-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,505834,505834,Brugada syndrome||Cardiovascular phenotype,Brugada syndrome||Cardiovascular phenotype,Brugada syndrome||Cardiovascular phenotype,variation_id
+3:38575452:C:G,SCN5A,VCV000496573,496573,NM_000335.5(SCN5A):c.3509-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,496573,496573,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,variation_id
+3:38562501:AG:A,SCN5A,VCV000463332,463332,NM_000335.5(SCN5A):c.3873del (p.Phe1292fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463332,463332,,,,unmatched
+3:38581077:AC:A,SCN5A,VCV000463318,463318,NM_000335.5(SCN5A):c.3081del (p.Phe1028fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,463318,463318,,,,unmatched
+3:38633104:A:T,SCN5A,VCV000463308,463308,NM_000335.5(SCN5A):c.204T>A (p.Tyr68Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,463308,463308,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38606688:C:T,SCN5A,VCV000463292,463292,NM_000335.5(SCN5A):c.1121G>A (p.Trp374Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463292,463292,,,,unmatched
+3:38550909:CAG:C,SCN5A,VCV000452184,452184,NM_000335.5(SCN5A):c.5458_5459del (p.Leu1820fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,452184,452184,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+3:38622414:C:T,SCN5A,VCV000448976,448976,NM_000335.5(SCN5A):c.468G>A (p.Trp156Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,448976,448976,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id
+3:38551076:T:A,SCN5A,VCV000446418,446418,NM_000335.5(SCN5A):c.5293A>T (p.Met1765Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,446418,446418,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id
+3:38560392:TGGACG:T,SCN5A,VCV000432733,432733,NM_000335.5(SCN5A):c.3992_3996del (p.Pro1331fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,432733,432733,,,,unmatched
+3:38622491:T:C,SCN5A,VCV000432148,432148,NM_000335.5(SCN5A):c.393-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,432148,432148,,,,unmatched
+3:38560245:G:A,SCN5A,VCV000431948,431948,NM_000335.5(SCN5A):c.4144C>T (p.Gln1382Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,431948,431948,Cardiovascular phenotype|Brugada syndrome,Cardiovascular phenotype|Brugada syndrome,Cardiovascular phenotype|Brugada syndrome,variation_id
+3:38633204:CCG:C,SCN5A,VCV000429979,429979,NM_000335.5(SCN5A):c.102_103del (p.Gly35fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,429979,429979,,,,unmatched
+3:38551289:G:A,SCN5A,VCV000426612,426612,NM_000335.5(SCN5A):c.5080C>T (p.Gln1694Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,426612,426612,,,,unmatched
+3:38551181:TG:T,SCN5A,VCV000426254,426254,NM_000335.5(SCN5A):c.5187del (p.Thr1730fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,426254,426254,,,,unmatched
+3:38560197:TC:T,SCN5A,VCV000423108,423108,NM_000335.5(SCN5A):c.4191del (p.Val1399fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,423108,423108,,,,unmatched
+3:38579476:GA:G,SCN5A,VCV000422443,422443,NM_000335.5(SCN5A):c.3244del (p.Ser1082fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,422443,422443,,,,unmatched
+3:38599020:G:A,SCN5A,VCV000421358,421358,NM_000335.5(SCN5A):c.1921C>T (p.Gln641Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,421358,421358,,,,unmatched
+3:38550838:C:CCACT,SCN5A,VCV000420342,420342,NM_000335.5(SCN5A):c.5527_5530dup (p.Gly1844fs),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,420342,420342,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+3:38587501:G:GTTGGAAA,SCN5A,VCV000419109,419109,NM_000335.5(SCN5A):c.2334_2335insTTTCCAA (p.Gln779fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,419109,419109,,,,unmatched
+3:38550944:C:A,SCN5A,VCV000406440,406440,NM_000335.5(SCN5A):c.5425G>T (p.Glu1809Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,406440,406440,,,,unmatched
+3:38633203:GC:G,SCN5A,VCV000406435,406435,NM_000335.5(SCN5A):c.104del (p.Gly35fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,406435,406435,,,,unmatched
+3:38579439:C:T,SCN5A,VCV000406434,406434,NM_000335.5(SCN5A):c.3282G>A (p.Trp1094Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,406434,406434,Brugada syndrome||Brugada syndrome 1|Cardiovascular phenotype,Brugada syndrome||Brugada syndrome 1|Cardiovascular phenotype,Brugada syndrome||Brugada syndrome 1|Cardiovascular phenotype,variation_id
+3:38609764:C:A,SCN5A,VCV000406427,406427,NM_000335.5(SCN5A):c.904G>T (p.Glu302Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,406427,406427,Cardiovascular phenotype|SCN5A-related disorder|Brugada syndrome (shorter-than-normal QT interval),Cardiovascular phenotype|SCN5A-related disorder|Brugada syndrome (shorter-than-normal QT interval),Cardiovascular phenotype|SCN5A-related disorder|Brugada syndrome (shorter-than-normal QT interval),variation_id
+3:38581226:C:T,SCN5A,VCV000406426,406426,NM_000335.5(SCN5A):c.2933G>A (p.Trp978Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,406426,406426,,,,unmatched
+3:38581136:GGGGTGGCAATGCA:G,SCN5A,VCV000406419,406419,NM_000335.5(SCN5A):c.3010_3022del (p.Cys1004fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,406419,406419,,,,unmatched
+3:38550782:C:A,SCN5A,VCV000406418,406418,NM_000335.5(SCN5A):c.5587G>T (p.Glu1863Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,406418,406418,,,,unmatched
+3:38550951:CTGAG:C,SCN5A,VCV000406415,406415,NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,406415,406415,Cardiovascular phenotype|8 conditions,Cardiovascular phenotype|8 conditions,Cardiovascular phenotype|8 conditions,variation_id
+3:38585842:C:T,SCN5A,VCV000406396,406396,NM_000335.5(SCN5A):c.2636G>A (p.Trp879Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,406396,406396,,,,unmatched
+3:38597804:GAGT:G,SCN5A,VCV000403732,403732,NM_000335.5(SCN5A):c.2184_2186del (p.Leu729del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,403732,403732,Familial isolated arrhythmogenic right ventricular dysplasia|Brugada syndrome 1,Familial isolated arrhythmogenic right ventricular dysplasia|Brugada syndrome 1,Familial isolated arrhythmogenic right ventricular dysplasia|Brugada syndrome 1,variation_id
+3:38633034:C:T,SCN5A,VCV000392337,392337,NM_000335.5(SCN5A):c.273+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,392337,392337,Cervical cancer,Cervical cancer,Cervical cancer,variation_id
+3:38551459:C:G,SCN5A,VCV000389150,389150,NM_000335.5(SCN5A):c.4910G>C (p.Arg1637Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,389150,389150,,,,unmatched
+3:38606034:G:A,SCN5A,VCV000374130,374130,NM_000335.5(SCN5A):c.1255C>T (p.Gln419Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,374130,374130,Syncope,Syncope,Syncope,variation_id
+21:34449542:GGCCAGGCCCGACATGTT:G,KCNE1,VCV004724223,4724223,NM_000219.6(KCNE1):c.76_92del (p.Asn26fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4724223,4724223,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+21:34449512:CT:C,KCNE1,VCV003601178,3601178,NM_000219.6(KCNE1):c.122del (p.Lys41fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3601178,3601178,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id
+21:34449404:TG:T,KCNE1,VCV001415503,1415503,NM_000219.6(KCNE1):c.230del (p.Pro77fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1415503,1415503,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+21:34449611:C:CGCTG,KCNE1,VCV001343372,1343372,NM_000219.6(KCNE1):c.20_23dup (p.Val9fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.4166666666666667,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1343372,1343372,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+21:34449634:T:A,KCNE1,VCV001065921,1065921,NM_000219.6(KCNE1):c.1A>T (p.Met1Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.4166666666666667,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1065921,1065921,Long QT syndrome|Long QT syndrome 5,Long QT syndrome|Long QT syndrome 5,Long QT syndrome|Long QT syndrome 5,variation_id
+21:34449540:C:CG,KCNE1,VCV000812588,812588,NM_000219.6(KCNE1):c.94dup (p.Arg32fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.4166666666666667,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,812588,812588,Long QT syndrome;Hereditary hearing loss and deafness,Long QT syndrome;Hereditary hearing loss and deafness,Long QT syndrome;Hereditary hearing loss and deafness,variation_id
+21:34449367:T:A,KCNE1,VCV000620398,620398,NM_000219.6(KCNE1):c.268A>T (p.Lys90Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.4166666666666667,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,620398,620398,Long QT syndrome 5,Long QT syndrome 5,Long QT syndrome 5,variation_id
+21:34449429:TTGGA:T,KCNE1,VCV000527017,527017,NM_000219.6(KCNE1):c.202_205del (p.Ser68fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,527017,527017,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+21:34449406:GGT:TAGA,KCNE1,VCV000441101,441101,NM_000219.6(KCNE1):c.227_229delinsTCTA (p.Asp76fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,,,,,,,,,,,False,False,False,False,False,0.4166666666666667,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,441101,441101,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id
+1:237784024:C:A,RYR2,VCV004814200,4814200,NM_001035.3(RYR2):c.12312C>A (p.Asn4104Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4814200,4814200,RYR2-related disorder,RYR2-related disorder,RYR2-related disorder,variation_id
+1:237808911:C:T,RYR2,VCV004800130,4800130,NM_001035.3(RYR2):c.14309C>T (p.Thr4770Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4800130,4800130,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237784290:G:T,RYR2,VCV004800118,4800118,NM_001035.3(RYR2):c.12578G>T (p.Cys4193Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4800118,4800118,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237783729:C:T,RYR2,VCV004800115,4800115,NM_001035.3(RYR2):c.12017C>T (p.Ser4006Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4800115,4800115,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237707057:A:G,RYR2,VCV004800104,4800104,NM_001035.3(RYR2):c.9689A>G (p.Gln3230Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4800104,4800104,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237633707:C:A,RYR2,VCV004800083,4800083,NM_001035.3(RYR2):c.6685C>A (p.Leu2229Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4800083,4800083,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237778718:C:A,RYR2,VCV004697937,4697937,NM_001035.3(RYR2):c.11828C>A (p.Ala3943Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4697937,4697937,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237778727:G:T,RYR2,VCV004614849,4614849,NM_001035.3(RYR2):c.11837G>T (p.Gly3946Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4614849,4614849,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+1:237441455:CCGTGAGAATGGGATCTATACAACGTAAGGTAAGGTGATAGAAAAAAACATAATTTATAGAAGTAATTTTTTATGAATACACAAGCACAAG:C,RYR2,VCV004542511,4542511,NM_001035.3(RYR2):c.1143_1170+62del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4542511,4542511,,,,unmatched
+1:237784242:T:G,RYR2,VCV004537880,4537880,NM_001035.3(RYR2):c.12530T>G (p.Val4177Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4537880,4537880,,,,unmatched
+1:237783938:G:A,RYR2,VCV004531406,4531406,NM_001035.3(RYR2):c.12226G>A (p.Glu4076Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4531406,4531406,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237441383:G:T,RYR2,VCV004291726,4291726,NM_001035.3(RYR2):c.1070G>T (p.Gly357Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4291726,4291726,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237387326:C:T,RYR2,VCV004071994,4071994,NM_001035.3(RYR2):c.622C>T (p.Gln208Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4071994,4071994,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237793907:G:T,RYR2,VCV003949071,3949071,NM_001035.3(RYR2):c.13823G>T (p.Arg4608Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3949071,3949071,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+1:237441275:TTTTTGAAATGTTTACTGACCTTTTTTTCCTCCTCTCCCCTTAGGA:ATTTTG,RYR2,VCV003901845,3901845,NM_001035.3(RYR2):c.1006-44_1007delinsATTTTG,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3901845,3901845,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237819130:G:T,RYR2,VCV003895065,3895065,NM_001035.3(RYR2):c.14528G>T (p.Arg4843Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3895065,3895065,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+1:237801912:A:G,RYR2,VCV003894941,3894941,NM_001035.3(RYR2):c.14147A>G (p.Asp4716Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3894941,3894941,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+1:237648501:C:T,RYR2,VCV003894655,3894655,NM_001035.3(RYR2):c.7400C>T (p.Ala2467Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894655,3894655,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+1:237377353:C:A,RYR2,VCV003776659,3776659,NM_001035.3(RYR2):c.494C>A (p.Ala165Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3776659,3776659,,,,unmatched
+1:237783971:T:C,RYR2,VCV003766443,3766443,NM_001035.3(RYR2):c.12259T>C (p.Phe4087Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,3766443,3766443,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237798092:G:A,RYR2,VCV003633845,3633845,NM_001035.3(RYR2):c.14012G>A (p.Gly4671Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3633845,3633845,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237784143:G:T,RYR2,VCV003633837,3633837,NM_001035.3(RYR2):c.12431G>T (p.Arg4144Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3633837,3633837,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237639059:A:G,RYR2,VCV003633806,3633806,NM_001035.3(RYR2):c.6973A>G (p.Ile2325Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3633806,3633806,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237784233:T:C,RYR2,VCV003572967,3572967,NM_001035.3(RYR2):c.12521T>C (p.Phe4174Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3572967,3572967,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237640950:C:T,RYR2,VCV003544417,3544417,NM_001035.3(RYR2):c.7169C>T (p.Thr2390Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3544417,3544417,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237638457:A:G,RYR2,VCV003544409,3544409,NM_001035.3(RYR2):c.6893A>G (p.Tyr2298Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3544409,3544409,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237778684:C:G,RYR2,VCV003391121,3391121,NM_001035.3(RYR2):c.11794C>G (p.Gln3932Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3391121,3391121,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,variation_id
+1:237808910:A:G,RYR2,VCV003383138,3383138,NM_001035.3(RYR2):c.14308A>G (p.Thr4770Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3383138,3383138,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237727196:C:T,RYR2,VCV003382069,3382069,NM_001035.3(RYR2):c.10835C>T (p.Pro3612Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3382069,3382069,Catecholaminergic polymorphic ventricular tachycardia 1;Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Catecholaminergic polymorphic ventricular tachycardia 1;Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Catecholaminergic polymorphic ventricular tachycardia 1;Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,variation_id
+1:237640956:A:T,RYR2,VCV003338338,3338338,NM_001035.3(RYR2):c.7175A>T (p.Tyr2392Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3338338,3338338,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id
+1:237806143:C:T,RYR2,VCV003337537,3337537,NM_001035.3(RYR2):c.14158C>T (p.Leu4720Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3337537,3337537,,,,unmatched
+1:237708886:GAAAC:G,RYR2,VCV003065287,3065287,NM_001035.3(RYR2):c.9931_9934del (p.Lys3311fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3065287,3065287,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,variation_id
+1:237819075:G:A,RYR2,VCV002920176,2920176,NM_001035.3(RYR2):c.14473G>A (p.Gly4825Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2920176,2920176,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237638437:C:A,RYR2,VCV002883988,2883988,NM_001035.3(RYR2):c.6873C>A (p.Asn2291Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2883988,2883988,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237643382:T:G,RYR2,VCV002865610,2865610,NM_001035.3(RYR2):c.7277T>G (p.Leu2426Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2865610,2865610,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237638462:G:C,RYR2,VCV002840453,2840453,NM_001035.3(RYR2):c.6898G>C (p.Asp2300His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2840453,2840453,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237445429:A:G,RYR2,VCV002806184,2806184,NM_001035.3(RYR2):c.1199A>G (p.Asp400Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2806184,2806184,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237793882:T:A,RYR2,VCV002758112,2758112,NM_001035.3(RYR2):c.13798T>A (p.Phe4600Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,2758112,2758112,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237784223:C:G,RYR2,VCV002747580,2747580,NM_001035.3(RYR2):c.12511C>G (p.Gln4171Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2747580,2747580,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237648521:A:G,RYR2,VCV002734117,2734117,NM_001035.3(RYR2):c.7420A>G (p.Arg2474Gly),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2734117,2734117,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237783984:C:G,RYR2,VCV002727021,2727021,NM_001035.3(RYR2):c.12272C>G (p.Ala4091Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2727021,2727021,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237832640:T:C,RYR2,VCV002719667,2719667,NM_001035.3(RYR2):c.14897T>C (p.Leu4966Pro),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2719667,2719667,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237377426:A:C,RYR2,VCV002707246,2707246,NM_001035.3(RYR2):c.567A>C (p.Glu189Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2707246,2707246,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237784131:G:C,RYR2,VCV002587823,2587823,NM_001035.3(RYR2):c.12419G>C (p.Gly4140Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2587823,2587823,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+1:237638403:T:C,RYR2,VCV002575972,2575972,NM_001035.3(RYR2):c.6839T>C (p.Leu2280Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575972,2575972,,,,unmatched
+1:237806282:A:C,RYR2,VCV002500749,2500749,NM_001035.3(RYR2):c.14297A>C (p.Gln4766Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2500749,2500749,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237778695:G:C,RYR2,VCV002441802,2441802,NM_001035.3(RYR2):c.11805G>C (p.Leu3935Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2441802,2441802,Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,variation_id
+1:237784307:G:C,RYR2,VCV002435632,2435632,NM_001035.3(RYR2):c.12595G>C (p.Glu4199Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2435632,2435632,,,,unmatched
+1:237783728:T:A,RYR2,VCV002433112,2433112,NM_001035.3(RYR2):c.12016T>A (p.Ser4006Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2433112,2433112,,,,unmatched
+1:237377349:C:T,RYR2,VCV002203006,2203006,NM_001035.3(RYR2):c.490C>T (p.Pro164Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2203006,2203006,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237784187:C:A,RYR2,VCV002169498,2169498,NM_001035.3(RYR2):c.12475C>A (p.Gln4159Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2169498,2169498,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237633624:G:A,RYR2,VCV002151921,2151921,NM_001035.3(RYR2):c.6602G>A (p.Cys2201Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2151921,2151921,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237808913:G:T,RYR2,VCV002125455,2125455,NM_001035.3(RYR2):c.14311G>T (p.Val4771Phe),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2125455,2125455,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id
+1:237783980:C:G,RYR2,VCV002120716,2120716,NM_001035.3(RYR2):c.12268C>G (p.Pro4090Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2120716,2120716,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237643361:T:C,RYR2,VCV002105630,2105630,NM_001035.3(RYR2):c.7256T>C (p.Ile2419Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2105630,2105630,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237638480:G:T,RYR2,VCV002101383,2101383,NM_001035.3(RYR2):c.6916G>T (p.Val2306Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2101383,2101383,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237445429:A:C,RYR2,VCV002075220,2075220,NM_001035.3(RYR2):c.1199A>C (p.Asp400Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2075220,2075220,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237633654:A:C,RYR2,VCV002018903,2018903,NM_001035.3(RYR2):c.6632A>C (p.Gln2211Pro),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2018903,2018903,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237784233:T:A,RYR2,VCV001997174,1997174,NM_001035.3(RYR2):c.12521T>A (p.Phe4174Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1997174,1997174,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237784034:C:T,RYR2,VCV001932217,1932217,NM_001035.3(RYR2):c.12322C>T (p.His4108Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1932217,1932217,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237445474:C:T,RYR2,VCV001805497,1805497,NM_001035.3(RYR2):c.1244C>T (p.Thr415Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1805497,1805497,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237270587:T:C,RYR2,VCV001805396,1805396,NM_001035.3(RYR2):c.139T>C (p.Cys47Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1805396,1805396,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237832604:C:G,RYR2,VCV001773663,1773663,NM_001035.3(RYR2):c.14861C>G (p.Ala4954Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1773663,1773663,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+1:237377364:C:G,RYR2,VCV001745086,1745086,NM_001035.3(RYR2):c.505C>G (p.Arg169Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1745086,1745086,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+1:237723201:A:ATCCAGAGAAGACGGTAGAAAGAG,RYR2,VCV001710227,1710227,NM_001035.3(RYR2):c.10630_10652dup (p.Val3551_Leu3552insGlnArgArgArgTer),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1710227,1710227,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237798100:A:G,RYR2,VCV001693182,1693182,NM_001035.3(RYR2):c.14020A>G (p.Lys4674Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1693182,1693182,Arrhythmogenic right ventricular cardiomyopathy,Arrhythmogenic right ventricular cardiomyopathy,Arrhythmogenic right ventricular cardiomyopathy,variation_id
+1:237830611:C:T,RYR2,VCV001527876,1527876,NM_001035.3(RYR2):c.14737C>T (p.His4913Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1527876,1527876,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237634949:A:T,RYR2,VCV001527868,1527868,NM_001035.3(RYR2):c.6749A>T (p.Asn2250Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1527868,1527868,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237445402:C:A,RYR2,VCV001524904,1524904,NM_001035.3(RYR2):c.1172C>A (p.Ala391Asp),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1524904,1524904,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id
+1:237633669:A:G,RYR2,VCV001499030,1499030,NM_001035.3(RYR2):c.6647A>G (p.Asp2216Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1499030,1499030,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237757772:A:G,RYR2,VCV001496297,1496297,NM_001035.3(RYR2):c.11321A>G (p.Gln3774Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1496297,1496297,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237806211:C:A,RYR2,VCV001480185,1480185,NM_001035.3(RYR2):c.14226C>A (p.His4742Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1480185,1480185,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237830584:G:A,RYR2,VCV001479669,1479669,NM_001035.3(RYR2):c.14710G>A (p.Gly4904Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1479669,1479669,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237781643:G:C,RYR2,VCV001474443,1474443,NM_001035.3(RYR2):c.11959G>C (p.Glu3987Gln),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1474443,1474443,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237784315:G:T,RYR2,VCV001472640,1472640,NM_001035.3(RYR2):c.12603G>T (p.Gln4201His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1472640,1472640,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237806237:A:T,RYR2,VCV001467901,1467901,NM_001035.3(RYR2):c.14252A>T (p.Lys4751Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1467901,1467901,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237640994:G:A,RYR2,VCV001451617,1451617,NM_001035.3(RYR2):c.7213G>A (p.Glu2405Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1451617,1451617,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237793882:T:C,RYR2,VCV001441921,1441921,NM_001035.3(RYR2):c.13798T>C (p.Phe4600Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1441921,1441921,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237784158:A:G,RYR2,VCV001441891,1441891,NM_001035.3(RYR2):c.12446A>G (p.Tyr4149Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1441891,1441891,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id
+1:237784176:C:A,RYR2,VCV001410932,1410932,NM_001035.3(RYR2):c.12464C>A (p.Ser4155Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1410932,1410932,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237638464:C:G,RYR2,VCV001384586,1384586,NM_001035.3(RYR2):c.6900C>G (p.Asp2300Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1384586,1384586,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237649944:T:G,RYR2,VCV001383749,1383749,NM_001035.3(RYR2):c.7580T>G (p.Leu2527Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1383749,1383749,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237793920:T:G,RYR2,VCV001363823,1363823,NM_001035.3(RYR2):c.13836T>G (p.Phe4612Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1363823,1363823,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237760996:A:G,RYR2,VCV001346560,1346560,NM_001035.3(RYR2):c.11444A>G (p.Glu3815Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1346560,1346560,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237441339:GAGAAA:G,RYR2,VCV001342890,1342890,NM_001035.3(RYR2):c.1031_1035del (p.Lys344fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1342890,1342890,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237469125:C:T,RYR2,VCV001330215,1330215,NM_001035.3(RYR2):c.1646C>T (p.Ala549Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1330215,1330215,Arrhythmogenic right ventricular dysplasia 2;Catecholaminergic polymorphic ventricular tachycardia 1,Arrhythmogenic right ventricular dysplasia 2;Catecholaminergic polymorphic ventricular tachycardia 1,Arrhythmogenic right ventricular dysplasia 2;Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237772037:G:C,RYR2,VCV001213111,1213111,NM_001035.3(RYR2):c.11583G>C (p.Gln3861His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1213111,1213111,,,,unmatched
+1:237784299:C:T,RYR2,VCV001119951,1119951,NM_001035.3(RYR2):c.12587C>T (p.Thr4196Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1119951,1119951,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237783695:A:C,RYR2,VCV001119950,1119950,NM_001035.3(RYR2):c.11983A>C (p.Ile3995Leu),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1119950,1119950,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,variation_id
+1:237377373:G:A,RYR2,VCV001072928,1072928,NM_001035.3(RYR2):c.514G>A (p.Gly172Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1072928,1072928,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237648522:G:A,RYR2,VCV001072597,1072597,NM_001035.3(RYR2):c.7421G>A (p.Arg2474Lys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1072597,1072597,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237783981:C:T,RYR2,VCV001070571,1070571,NM_001035.3(RYR2):c.12269C>T (p.Pro4090Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1070571,1070571,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237639019:G:C,RYR2,VCV001069130,1069130,NM_001035.3(RYR2):c.6933G>C (p.Glu2311Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1069130,1069130,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237806159:A:G,RYR2,VCV001067931,1067931,NM_001035.3(RYR2):c.14174A>G (p.Tyr4725Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1067931,1067931,Catecholaminergic polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237377396:T:A,RYR2,VCV001067138,1067138,NM_001035.3(RYR2):c.537T>A (p.Asp179Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1067138,1067138,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237806219:A:G,RYR2,VCV001066599,1066599,NM_001035.3(RYR2):c.14234A>G (p.Asp4745Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1066599,1066599,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237631490:C:A,RYR2,VCV001051501,1051501,NM_001035.3(RYR2):c.6504C>A (p.His2168Gln),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1051501,1051501,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237828441:T:TTCC,RYR2,VCV001013805,1013805,NM_001035.3(RYR2):c.14651_14652insTCC (p.Met4884delinsIlePro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1013805,1013805,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237784055:C:T,RYR2,VCV001007679,1007679,NM_001035.3(RYR2):c.12343C>T (p.Leu4115Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1007679,1007679,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237674163:A:AG,RYR2,VCV000982634,982634,NM_001035.3(RYR2):c.8659dup (p.Glu2887fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,982634,982634,Arrhythmogenic right ventricular dysplasia 2,Arrhythmogenic right ventricular dysplasia 2,Arrhythmogenic right ventricular dysplasia 2,variation_id
+1:237445474:C:A,RYR2,VCV000979205,979205,NM_001035.3(RYR2):c.1244C>A (p.Thr415Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,979205,979205,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237784211:G:A,RYR2,VCV000979204,979204,NM_001035.3(RYR2):c.12499G>A (p.Glu4167Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,979204,979204,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237707216:T:A,RYR2,VCV000978366,978366,NM_001035.3(RYR2):c.9848T>A (p.Ile3283Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,978366,978366,Conduction disorder of the heart,Conduction disorder of the heart,Conduction disorder of the heart,variation_id
+1:237633671:C:T,RYR2,VCV000957942,957942,NM_001035.3(RYR2):c.6649C>T (p.His2217Tyr),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,957942,957942,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237633708:T:C,RYR2,VCV000954202,954202,NM_001035.3(RYR2):c.6686T>C (p.Leu2229Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,954202,954202,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237492996:G:A,RYR2,VCV000947851,947851,NM_001035.3(RYR2):c.1870G>A (p.Ala624Thr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,947851,947851,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237388087:G:A,RYR2,VCV000947702,947702,NM_001035.3(RYR2):c.677G>A (p.Gly226Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,947702,947702,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237759848:T:C,RYR2,VCV000940323,940323,NM_001035.3(RYR2):c.11398T>C (p.Cys3800Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,940323,940323,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237759824:AGCCTGGCCG:A,RYR2,VCV000933804,933804,NM_001035.3(RYR2):c.11380_11388del (p.Ala3794_Leu3796del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,933804,933804,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237709543:G:GT,RYR2,VCV000931781,931781,NM_001035.3(RYR2):c.10209dup (p.Ile3404fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,931781,931781,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237648558:ATCTTCTTGAGGT:A,RYR2,VCV000915531,915531,NM_001035.3(RYR2):c.7459_7470del (p.Leu2487_Val2490del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,915531,915531,Cardiomyopathy,Cardiomyopathy,Cardiomyopathy,variation_id
+1:237270563:G:GCAGAAGGATTTGGCAA,RYR2,VCV000870975,870975,NM_001035.3(RYR2):c.120_135dup (p.Leu46fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,870975,870975,,,,unmatched
+1:237831526:G:T,RYR2,VCV000869428,869428,NM_001035.3(RYR2):c.14769G>T (p.Met4923Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,869428,869428,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237648525:T:C,RYR2,VCV000861770,861770,NM_001035.3(RYR2):c.7424T>C (p.Val2475Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,861770,861770,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237639068:C:G,RYR2,VCV000840374,840374,NM_001035.3(RYR2):c.6982C>G (p.Pro2328Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,840374,840374,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237798158:CCTT:C,RYR2,VCV000692253,692253,NM_001035.3(RYR2):c.14079_14081del (p.Leu4694del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,692253,692253,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237784301:A:C,RYR2,VCV000665174,665174,NM_001035.3(RYR2):c.12589A>C (p.Ile4197Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,665174,665174,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237784290:G:A,RYR2,VCV000656745,656745,NM_001035.3(RYR2):c.12578G>A (p.Cys4193Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,656745,656745,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237423097:G:T,RYR2,VCV000654791,654791,NM_001035.3(RYR2):c.854G>T (p.Ser285Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,654791,654791,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237778755:G:C,RYR2,VCV000654125,654125,NM_001035.3(RYR2):c.11865G>C (p.Gln3955His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,654125,654125,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237830557:A:C,RYR2,VCV000651491,651491,NM_001035.3(RYR2):c.14683A>C (p.Asn4895His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,651491,651491,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237643361:T:G,RYR2,VCV000649923,649923,NM_001035.3(RYR2):c.7256T>G (p.Ile2419Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,649923,649923,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237778727:G:A,RYR2,VCV000644207,644207,NM_001035.3(RYR2):c.11837G>A (p.Gly3946Asp),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,644207,644207,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237778678:G:C,RYR2,VCV000637985,637985,NM_001035.3(RYR2):c.11788G>C (p.Gly3930Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,637985,637985,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237784280:G:A,RYR2,VCV000580536,580536,NM_001035.3(RYR2):c.12568G>A (p.Val4190Met),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,580536,580536,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237784189:G:T,RYR2,VCV000578246,578246,NM_001035.3(RYR2):c.12477G>T (p.Gln4159His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,578246,578246,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237792319:T:C,RYR2,VCV000575682,575682,NM_001035.3(RYR2):c.13778T>C (p.Leu4593Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,575682,575682,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237778753:C:G,RYR2,VCV000575059,575059,NM_001035.3(RYR2):c.11863C>G (p.Gln3955Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,575059,575059,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237633668:G:C,RYR2,VCV000571532,571532,NM_001035.3(RYR2):c.6646G>C (p.Asp2216His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,571532,571532,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237784251:G:T,RYR2,VCV000570194,570194,NM_001035.3(RYR2):c.12539G>T (p.Gly4180Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,570194,570194,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237791480:G:C,RYR2,VCV000568135,568135,NM_001035.3(RYR2):c.13528G>C (p.Ala4510Pro),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,568135,568135,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237819188:A:G,RYR2,VCV000566084,566084,NM_001035.3(RYR2):c.14586A>G (p.Ile4862Met),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,566084,566084,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237784261:AGAG:A,RYR2,VCV000560709,560709,NM_001035.3(RYR2):c.12550_12552del (p.Glu4184del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,560709,560709,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237628052:G:A,RYR2,VCV000532366,532366,NM_001035.3(RYR2):c.6412G>A (p.Glu2138Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,532366,532366,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237819187:T:C,RYR2,VCV000532324,532324,NM_001035.3(RYR2):c.14585T>C (p.Ile4862Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,532324,532324,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237441320:A:G,RYR2,VCV000520467,520467,NM_001035.3(RYR2):c.1007A>G (p.Glu336Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,520467,520467,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+1:237639110:G:A,RYR2,VCV000519356,519356,NM_001035.3(RYR2):c.7024G>A (p.Gly2342Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519356,519356,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+1:237639095:G:C,RYR2,VCV000463624,463624,NM_001035.3(RYR2):c.7009G>C (p.Gly2337Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463624,463624,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237377426:A:T,RYR2,VCV000463608,463608,NM_001035.3(RYR2):c.567A>T (p.Glu189Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463608,463608,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237377374:G:A,RYR2,VCV000463605,463605,NM_001035.3(RYR2):c.515G>A (p.Gly172Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463605,463605,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id
+1:237819192:G:T,RYR2,VCV000463579,463579,NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463579,463579,Catecholaminergic polymorphic ventricular tachycardia 1|Squamous cell lung carcinoma,Catecholaminergic polymorphic ventricular tachycardia 1|Squamous cell lung carcinoma,Catecholaminergic polymorphic ventricular tachycardia 1|Squamous cell lung carcinoma,variation_id
+1:237806236:A:G,RYR2,VCV000463577,463577,NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463577,463577,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237445428:G:A,RYR2,VCV000463549,463549,NM_001035.3(RYR2):c.1198G>A (p.Asp400Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463549,463549,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237808943:T:C,RYR2,VCV000452065,452065,NM_001035.3(RYR2):c.14341T>C (p.Tyr4781His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,452065,452065,,,,unmatched
+1:237639026:GAG:AAA,RYR2,VCV000450836,450836,NM_001035.3(RYR2):c.6940_6942delinsAAA (p.Glu2314Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,MNV_or_substitution,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,450836,450836,,,,unmatched
+1:237832607:G:A,RYR2,VCV000449306,449306,NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,449306,449306,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237783708:T:C,RYR2,VCV000427948,427948,NM_001035.3(RYR2):c.11996T>C (p.Met3999Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,427948,427948,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id
+1:237377361:C:G,RYR2,VCV000427184,427184,NM_001035.3(RYR2):c.502C>G (p.Gln168Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,427184,427184,,,,unmatched
+1:237781598:A:G,RYR2,VCV000427164,427164,NM_001035.3(RYR2):c.11914A>G (p.Met3972Val),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,427164,427164,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237828390:T:C,RYR2,VCV000423597,423597,NM_001035.3(RYR2):c.14600T>C (p.Ile4867Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,423597,423597,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id
+1:237784281:T:G,RYR2,VCV000420865,420865,NM_001035.3(RYR2):c.12569T>G (p.Val4190Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,420865,420865,,,,unmatched
+1:237783714:A:G,RYR2,VCV000418465,418465,NM_001035.3(RYR2):c.12002A>G (p.Asp4001Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418465,418465,,,,unmatched
+1:237638450:G:A,RYR2,VCV000404218,404218,NM_001035.3(RYR2):c.6886G>A (p.Glu2296Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,404218,404218,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237756342:C:T,RYR2,VCV000404208,404208,NM_001035.3(RYR2):c.11200C>T (p.Arg3734Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,404208,404208,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:237832592:A:G,RYR2,VCV000372588,372588,NM_001035.3(RYR2):c.14849A>G (p.Glu4950Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,372588,372588,,,,unmatched
+1:237377365:G:T,RYR2,VCV000372582,372582,NM_001035.3(RYR2):c.506G>T (p.Arg169Leu),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,372582,372582,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+1:115702981:C:T,CASQ2,VCV004798117,4798117,NM_001232.4(CASQ2):c.954G>A (p.Trp318Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4798117,4798117,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:115740766:C:A,CASQ2,VCV004281696,4281696,NM_001232.4(CASQ2):c.382G>T (p.Glu128Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4281696,4281696,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id
+1:115732899:AC:A,CASQ2,VCV004219483,4219483,NM_001232.4(CASQ2):c.606+1del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4219483,4219483,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+1:115705283:TCGTAG:T,CASQ2,VCV003722584,3722584,NM_001232.4(CASQ2):c.843_847del (p.Tyr282fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3722584,3722584,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:115768370:C:A,CASQ2,VCV003722580,3722580,NM_001232.4(CASQ2):c.172G>T (p.Glu58Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3722580,3722580,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:115768496:AG:A,CASQ2,VCV003688556,3688556,NM_001232.4(CASQ2):c.45del (p.Ser16fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3688556,3688556,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:115738337:T:A,CASQ2,VCV003676998,3676998,NM_001232.4(CASQ2):c.421-2A>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3676998,3676998,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:115732915:TG:T,CASQ2,VCV003638681,3638681,NM_001232.4(CASQ2):c.591del (p.Thr198fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3638681,3638681,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:115732924:AT:A,CASQ2,VCV003623127,3623127,NM_001232.4(CASQ2):c.582del (p.Lys194fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3623127,3623127,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:115768540:A:T,CASQ2,VCV003575736,3575736,NM_001232.4(CASQ2):c.2T>A (p.Met1Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3575736,3575736,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id
+1:115768531:GTT:G,CASQ2,VCV003575685,3575685,NM_001232.4(CASQ2):c.9_10del (p.Arg3fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3575685,3575685,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id
+1:115732899:A:T,CASQ2,VCV003575384,3575384,NM_001232.4(CASQ2):c.606+2T>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3575384,3575384,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:115701253:ATCGTCATCACTGT:A,CASQ2,VCV003338342,3338342,NM_001232.4(CASQ2):c.1175_1187del (p.Asp392fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3338342,3338342,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id
+1:115732976:T:C,CASQ2,VCV003263466,3263466,NM_001232.4(CASQ2):c.533-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3263466,3263466,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id
+1:115725509:CA:C,CASQ2,VCV002822271,2822271,NM_001232.4(CASQ2):c.781del (p.Trp261fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2822271,2822271,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:115768337:G:A,CASQ2,VCV002806492,2806492,NM_001232.4(CASQ2):c.205C>T (p.Gln69Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2806492,2806492,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:115725536:AG:A,CASQ2,VCV002770074,2770074,NM_001232.4(CASQ2):c.754del (p.Leu252fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2770074,2770074,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:115740732:AAG:A,CASQ2,VCV002744443,2744443,NM_001232.4(CASQ2):c.414_415del (p.Leu139fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2744443,2744443,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:115701359:C:T,CASQ2,VCV002717451,2717451,NM_001232.4(CASQ2):c.1082G>A (p.Trp361Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2717451,2717451,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:115768510:AT:A,CASQ2,VCV002704628,2704628,NM_001232.4(CASQ2):c.31del (p.Ile11fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2704628,2704628,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:115744878:C:CTA,CASQ2,VCV002506578,2506578,NM_001232.4(CASQ2):c.268_269insTA (p.Gly90fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2506578,2506578,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id
+1:115727123:C:T,CASQ2,VCV002438853,2438853,NM_001232.4(CASQ2):c.607-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2438853,2438853,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id
+1:115744826:A:C,CASQ2,VCV002089290,2089290,NM_001232.4(CASQ2):c.319+2T>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2089290,2089290,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id
+1:115744885:C:CT,CASQ2,VCV001793918,1793918,NM_001232.4(CASQ2):c.261dup (p.Ala88fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.5125,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1793918,1793918,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+1:115744827:C:T,CASQ2,VCV001324014,1324014,NM_001232.4(CASQ2):c.319+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1324014,1324014,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id
+1:115768540:A:G,CASQ2,VCV000452250,452250,NM_001232.4(CASQ2):c.2T>C (p.Met1Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,452250,452250,Wolff-Parkinson-White pattern|Catecholaminergic polymorphic ventricular tachycardia 1,Wolff-Parkinson-White pattern|Catecholaminergic polymorphic ventricular tachycardia 1,Wolff-Parkinson-White pattern|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123548549:G:GT,TRDN,VCV004782180,4782180,NM_006073.4(TRDN):c.295dup (p.Thr99fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4782180,4782180,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123503717:A:G,TRDN,VCV004714700,4714700,NM_006073.4(TRDN):c.793+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4714700,4714700,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123516169:TA:T,TRDN,VCV004712099,4712099,NM_006073.4(TRDN):c.521del (p.Val174fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4712099,4712099,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123337646:T:A,TRDN,VCV004077705,4077705,NM_006073.4(TRDN):c.1393A>T (p.Lys465Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4077705,4077705,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id
+6:123516208:T:A,TRDN,VCV003721374,3721374,NM_006073.4(TRDN):c.485-2A>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3721374,3721374,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123571134:T:C,TRDN,VCV003669900,3669900,NM_006073.4(TRDN):c.23-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3669900,3669900,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123548461:AG:A,TRDN,VCV003593000,3593000,NM_006073.4(TRDN):c.383del (p.Thr128fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3593000,3593000,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id
+6:123503894:CTTCTG:C,TRDN,VCV002920531,2920531,NC_000006.12:g.123503896TCTGT[1],Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,2920531,2920531,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123548510:TC:T,TRDN,VCV002818604,2818604,NM_006073.4(TRDN):c.334del (p.Asp112fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2818604,2818604,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123503902:C:T,TRDN,VCV002730579,2730579,NM_006073.4(TRDN):c.611-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,2730579,2730579,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123548518:CA:C,TRDN,VCV002634568,2634568,NM_006073.4(TRDN):c.326del (p.Leu109fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2634568,2634568,TRDN-related disorder|Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,TRDN-related disorder|Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,TRDN-related disorder|Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123530539:G:A,TRDN,VCV002018973,2018973,NM_006073.4(TRDN):c.451C>T (p.Gln151Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2018973,2018973,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123636774:A:G,TRDN,VCV001798674,1798674,NM_006073.4(TRDN):c.2T>C (p.Met1Thr),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1798674,1798674,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123548553:C:TT,TRDN,VCV001797791,1797791,NM_006073.4(TRDN):c.292delinsAA (p.Glu98fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1797791,1797791,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+6:123516157:TTC:T,TRDN,VCV001746830,1746830,NM_006073.4(TRDN):c.532_533del (p.Glu178fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1746830,1746830,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123516183:C:A,TRDN,VCV001708485,1708485,NM_006073.4(TRDN):c.508G>T (p.Gly170Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1708485,1708485,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id
+6:123571063:AC:A,TRDN,VCV001458047,1458047,NM_006073.4(TRDN):c.91del (p.Val31fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1458047,1458047,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123570921:A:T,TRDN,VCV000463677,463677,NM_006073.4(TRDN):c.232+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,463677,463677,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123570988:A:G,TRDN,VCV000408740,408740,NM_006073.4(TRDN):c.167T>C (p.Leu56Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,408740,408740,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+6:123503893:TC:T,TRDN,VCV000408737,408737,NM_006073.4(TRDN):c.618del (p.Ala208fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,408737,408737,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id
+14:90404482:A:T,CALM1,VCV004787824,4787824,NM_006888.6(CALM1):c.389A>T (p.Asp130Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4787824,4787824,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,variation_id
+14:90403953:C:G,CALM1,VCV004785412,4785412,NM_006888.6(CALM1):c.270C>G (p.Phe90Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4785412,4785412,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,variation_id
+14:90404491:G:T,CALM1,VCV003338336,3338336,NM_006888.6(CALM1):c.398G>T (p.Gly133Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3338336,3338336,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+14:90404379:G:T,CALM1,VCV002100843,2100843,NM_006888.6(CALM1):c.286G>T (p.Asp96Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2100843,2100843,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,variation_id
+14:90404488:A:G,CALM1,VCV001362982,1362982,NM_006888.6(CALM1):c.395A>G (p.Asp132Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1362982,1362982,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,variation_id
+14:90404689:A:T,CALM1,VCV000974613,974613,NM_006888.6(CALM1):c.422A>T (p.Glu141Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,974613,974613,Long QT syndrome 14,Long QT syndrome 14,Long QT syndrome 14,variation_id
+14:90404689:A:G,CALM1,VCV000974612,974612,NM_006888.6(CALM1):c.422A>G (p.Glu141Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,974612,974612,Long QT syndrome 14,Long QT syndrome 14,Long QT syndrome 14,variation_id
+14:90404693:C:A,CALM1,VCV000961658,961658,NM_006888.6(CALM1):c.426C>A (p.Phe142Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,961658,961658,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,variation_id
+14:90404488:A:T,CALM1,VCV000948239,948239,NM_006888.6(CALM1):c.395A>T (p.Asp132Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,948239,948239,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,variation_id
+14:90404487:G:A,CALM1,VCV000639902,639902,NM_006888.6(CALM1):c.394G>A (p.Asp132Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,639902,639902,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,variation_id
+14:90404491:G:A,CALM1,VCV000542137,542137,NM_006888.6(CALM1):c.398G>A (p.Gly133Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,542137,542137,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,variation_id
+14:90404691:T:C,CALM1,VCV000426161,426161,NM_006888.6(CALM1):c.424T>C (p.Phe142Leu),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,426161,426161,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4|Cardiovascular phenotype,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4|Cardiovascular phenotype,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4|Cardiovascular phenotype,variation_id
+14:90404512:A:T,CALM1,VCV000418107,418107,NM_006888.6(CALM1):c.419A>T (p.Glu140Val),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418107,418107,,,,unmatched
+14:90404406:G:A,CALM1,VCV000388500,388500,NM_006888.6(CALM1):c.313G>A (p.Glu105Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,388500,388500,,,,unmatched
+14:90401312:A:C,CALM1,VCV000384090,384090,NM_006888.6(CALM1):c.88A>C (p.Thr30Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,384090,384090,,,,unmatched
+2:47162303:A:G,CALM2,VCV002734184,2734184,NM_001743.6(CALM2):c.268T>C (p.Phe90Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2734184,2734184,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+2:47161831:C:G,CALM2,VCV002500174,2500174,NM_001743.6(CALM2):c.313G>C (p.Glu105Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2500174,2500174,Long QT syndrome 15,Long QT syndrome 15,Long QT syndrome 15,variation_id
+2:47161750:C:A,CALM2,VCV001456260,1456260,NM_001743.6(CALM2):c.394G>T (p.Asp132Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1456260,1456260,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+2:47161756:C:T,CALM2,VCV001398892,1398892,NM_001743.6(CALM2):c.388G>A (p.Asp130Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1398892,1398892,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+2:47161804:C:T,CALM2,VCV001327459,1327459,NM_001743.6(CALM2):c.340G>A (p.Gly114Arg),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1327459,1327459,SUDDEN INFANT DEATH SYNDROME,SUDDEN INFANT DEATH SYNDROME,SUDDEN INFANT DEATH SYNDROME,variation_id
+2:47161747:C:T,CALM2,VCV001067140,1067140,NM_001743.6(CALM2):c.397G>A (p.Gly133Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1067140,1067140,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+2:47161749:T:C,CALM2,VCV000955533,955533,NM_001743.6(CALM2):c.395A>G (p.Asp132Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,955533,955533,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+2:47161755:T:C,CALM2,VCV000812710,812710,NM_001743.6(CALM2):c.389A>G (p.Asp130Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,812710,812710,Long QT syndrome 15|Long QT syndrome 1,Long QT syndrome 15|Long QT syndrome 1,Long QT syndrome 15|Long QT syndrome 1,variation_id
+2:47161858:C:A,CALM2,VCV000641544,641544,NM_001743.6(CALM2):c.286G>T (p.Asp96Tyr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,641544,641544,Long QT syndrome 1|Long QT syndrome 15,Long QT syndrome 1|Long QT syndrome 15,Long QT syndrome 1|Long QT syndrome 15,variation_id
+2:47160792:A:C,CALM2,VCV000576319,576319,NM_001743.6(CALM2):c.434T>G (p.Met145Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,576319,576319,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+2:47161730:G:C,CALM2,VCV000488476,488476,NM_001743.6(CALM2):c.414C>G (p.Asn138Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,488476,488476,Long QT syndrome 15,Long QT syndrome 15,Long QT syndrome 15,variation_id
+2:47161744:C:T,CALM2,VCV000448971,448971,NM_001743.6(CALM2):c.400G>A (p.Asp134Asn),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,448971,448971,Long QT syndrome 15|Long QT syndrome 1,Long QT syndrome 15|Long QT syndrome 1,Long QT syndrome 15|Long QT syndrome 1,variation_id
+19:46609129:T:G,CALM3,VCV002138308,2138308,NM_005184.4(CALM3):c.426T>G (p.Phe142Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2138308,2138308,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+19:46608950:C:G,CALM3,VCV001358003,1358003,NM_005184.4(CALM3):c.390C>G (p.Asp130Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1358003,1358003,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+19:46608981:G:A,CALM3,VCV000812678,812678,NM_005184.4(CALM3):c.421G>A (p.Glu141Lys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,812678,812678,Long QT syndrome 16|Long QT syndrome 1,Long QT syndrome 16|Long QT syndrome 1,Long QT syndrome 16|Long QT syndrome 1,variation_id
+19:46608949:A:G,CALM3,VCV000812676,812676,NM_005184.4(CALM3):c.389A>G (p.Asp130Gly),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,812676,812676,Long QT syndrome 16,Long QT syndrome 16,Long QT syndrome 16,variation_id
+19:46609125:A:G,CALM3,VCV000458198,458198,NM_005184.4(CALM3):c.422A>G (p.Glu141Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,458198,458198,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+19:46608584:A:C,CALM3,VCV000409871,409871,NM_005184.4(CALM3):c.281A>C (p.Asp94Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,409871,409871,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id
+19:46608846:G:C,CALM3,VCV000409870,409870,NM_005184.4(CALM3):c.286G>C (p.Asp96His),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,409870,409870,Long QT syndrome 1|Long QT syndrome 16,Long QT syndrome 1|Long QT syndrome 16,Long QT syndrome 1|Long QT syndrome 16,variation_id
+19:46608955:A:G,CALM3,VCV000389576,389576,NM_005184.4(CALM3):c.395A>G (p.Asp132Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,389576,389576,,,,unmatched
+4:113332071:G:A,ANK2,VCV004796659,4796659,NM_001148.6(ANK2):c.3224+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4796659,4796659,,,,unmatched
+4:113343099:G:GT,ANK2,VCV004732021,4732021,NM_001148.6(ANK2):c.4212dup (p.Ala1405fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,4732021,4732021,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+4:113359191:G:T,ANK2,VCV004725226,4725226,NM_001148.6(ANK2):c.10573G>T (p.Glu3525Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4725226,4725226,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+4:113357844:C:T,ANK2,VCV004721538,4721538,NM_001148.6(ANK2):c.9226C>T (p.Gln3076Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4721538,4721538,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+4:113333098:AG:A,ANK2,VCV004708265,4708265,NM_001148.6(ANK2):c.3271del (p.Glu1091fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4708265,4708265,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+4:113354062:CAG:C,ANK2,VCV004683080,4683080,NM_001148.6(ANK2):c.5450_5451del (p.Arg1817fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4683080,4683080,ANK2-associated seizure disorder,ANK2-associated seizure disorder,ANK2-associated seizure disorder,variation_id
+4:113357838:C:T,ANK2,VCV004613600,4613600,NM_001148.6(ANK2):c.9220C>T (p.Gln3074Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4613600,4613600,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+4:113357853:AC:A,ANK2,VCV004613598,4613598,NM_001148.6(ANK2):c.9239del (p.Pro3080fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4613598,4613598,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+4:113348282:G:T,ANK2,VCV004531921,4531921,NM_001148.6(ANK2):c.4378G>T (p.Glu1460Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4531921,4531921,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id
+4:113346023:G:A,ANK2,VCV004293673,4293673,NM_001148.6(ANK2):c.4371+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4293673,4293673,ANK2-related disorder,ANK2-related disorder,ANK2-related disorder,variation_id
+4:113356654:C:G,ANK2,VCV004292238,4292238,NM_001148.6(ANK2):c.8036C>G (p.Ser2679Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4292238,4292238,ANK-related Autism spectrum disorder and epilepsy,ANK-related Autism spectrum disorder and epilepsy,ANK-related Autism spectrum disorder and epilepsy,variation_id
+4:113358882:G:T,ANK2,VCV004097147,4097147,NM_001148.6(ANK2):c.10264G>T (p.Glu3422Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4097147,4097147,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+4:113357955:C:T,ANK2,VCV004097146,4097146,NM_001148.6(ANK2):c.9337C>T (p.Arg3113Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4097146,4097146,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id
+4:113287648:T:G,ANK2,VCV004088107,4088107,NM_001148.6(ANK2):c.2123T>G (p.Val708Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4088107,4088107,,,,unmatched
+4:113355367:C:T,ANK2,VCV004075802,4075802,NM_001148.6(ANK2):c.6749C>T (p.Ser2250Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4075802,4075802,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id
+4:113353201:AG:A,ANK2,VCV004075490,4075490,NM_001148.6(ANK2):c.4585del (p.Ala1529fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4075490,4075490,,,,unmatched
+4:113360821:A:G,ANK2,VCV004071961,4071961,NM_001148.6(ANK2):c.10682-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4071961,4071961,ANK2-associated disorder,ANK2-associated disorder,ANK2-associated disorder,variation_id
+4:113346022:G:A,ANK2,VCV004071958,4071958,NM_001148.6(ANK2):c.4371G>A (p.Lys1457=),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4071958,4071958,ANK2-associated disorder,ANK2-associated disorder,ANK2-associated disorder,variation_id
+4:113353828:T:A,ANK2,VCV004051668,4051668,NM_001148.6(ANK2):c.5210T>A (p.Leu1737Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4051668,4051668,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+4:113317810:G:A,ANK2,VCV003898990,3898990,NM_001148.6(ANK2):c.2796+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3898990,3898990,,,,unmatched
+4:113353508:GAA:G,ANK2,VCV003897593,3897593,NM_001148.6(ANK2):c.4892_4893del (p.Lys1631fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3897593,3897593,"Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related",variation_id
+4:113335941:C:T,ANK2,VCV003772520,3772520,NM_001148.6(ANK2):c.3475C>T (p.Gln1159Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3772520,3772520,,,,unmatched
+4:113357857:CT:C,ANK2,VCV003729667,3729667,NM_001148.6(ANK2):c.9240del (p.Asp3081fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3729667,3729667,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+4:113357939:AT:A,ANK2,VCV003654249,3654249,NM_001148.6(ANK2):c.9323del (p.Leu3108fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3654249,3654249,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+4:113317795:AT:A,ANK2,VCV003632705,3632705,NM_001148.6(ANK2):c.2784del (p.Ser930fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3632705,3632705,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+4:113353367:TGA:T,ANK2,VCV003540989,3540989,NM_001148.6(ANK2):c.4755_4756del (p.Gly1586fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,3540989,3540989,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+4:113330274:C:T,ANK2,VCV003540979,3540979,NM_001148.6(ANK2):c.2929C>T (p.Arg977Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3540979,3540979,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+4:113335878:C:T,ANK2,VCV003390615,3390615,NM_001148.6(ANK2):c.3412C>T (p.Arg1138Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3390615,3390615,,,,unmatched
+4:113049789:CAG:C,ANK2,VCV003383192,3383192,NM_001148.6(ANK2):c.64_65del (p.Arg22fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3383192,3383192,"Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related",variation_id
+4:113358927:ATACT:A,ANK2,VCV003377103,3377103,NM_001148.6(ANK2):c.10313_10316del (p.Leu3438fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3377103,3377103,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id
+4:113358157:ACTTACT:TGGATGATGAG,ANK2,VCV003376714,3376714,NM_001148.6(ANK2):c.9539_9545delinsTGGATGATGAG (p.Asp3180fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3376714,3376714,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id
+4:113354861:T:TG,ANK2,VCV003376713,3376713,NM_001148.6(ANK2):c.6245dup (p.Gly2083fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3376713,3376713,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id
+4:113354249:ACACT:A,ANK2,VCV003376711,3376711,NM_001148.6(ANK2):c.5635_5638del (p.Ser1879fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3376711,3376711,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id
+4:113365182:G:A,ANK2,VCV003365181,3365181,NM_001148.6(ANK2):c.11032G>A (p.Gly3678Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3365181,3365181,,,,unmatched
+4:113354341:GC:G,ANK2,VCV003344952,3344952,NM_001148.6(ANK2):c.5724del (p.Thr1910fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3344952,3344952,ANK2-related disorder,ANK2-related disorder,ANK2-related disorder,variation_id
+4:113343143:G:T,ANK2,VCV003340753,3340753,NM_001148.6(ANK2):c.4248+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3340753,3340753,,,,unmatched
+4:113360880:T:C,ANK2,VCV003338731,3338731,NM_001148.6(ANK2):c.10739T>C (p.Leu3580Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3338731,3338731,,,,unmatched
+4:113302840:G:A,ANK2,VCV003337796,3337796,NM_001148.6(ANK2):c.2548+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3337796,3337796,,,,unmatched
+4:113357732:TG:T,ANK2,VCV003119609,3119609,NM_001148.6(ANK2):c.9115del (p.Asp3039fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3119609,3119609,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+4:113363349:G:T,ANK2,VCV003068471,3068471,NM_001148.6(ANK2):c.10768G>T (p.Glu3590Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3068471,3068471,ANK2-associated Neurodevelopmental Disorder,ANK2-associated Neurodevelopmental Disorder,ANK2-associated Neurodevelopmental Disorder,variation_id
+4:113354752:CAG:C,ANK2,VCV003030812,3030812,NM_001148.6(ANK2):c.6138_6139del (p.Asn2047fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3030812,3030812,ANK2-related disorder,ANK2-related disorder,ANK2-related disorder,variation_id
+4:113357778:GC:G,ANK2,VCV002861152,2861152,NM_001148.6(ANK2):c.9162del (p.Phe3055fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2861152,2861152,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+4:113343096:TC:T,ANK2,VCV002672177,2672177,NM_001148.6(ANK2):c.4203del (p.Phe1401fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2672177,2672177,Complex neurodevelopmental disorder,Complex neurodevelopmental disorder,Complex neurodevelopmental disorder,variation_id
+4:113332043:T:TG,ANK2,VCV002576797,2576797,NM_001148.6(ANK2):c.3201dup (p.Pro1068fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2576797,2576797,,,,unmatched
+4:113330297:CAG:C,ANK2,VCV002575852,2575852,NM_001148.6(ANK2):c.2954_2955del (p.Arg985fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575852,2575852,,,,unmatched
+4:113373350:GC:TT,ANK2,VCV002565317,2565317,NM_001148.6(ANK2):c.11760_11761delinsTT (p.Gln3921Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,LOF,,,,,,,,,,,False,False,False,False,False,0.6136363636363636,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2565317,2565317,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id
+4:113292416:AACGGCTAC:A,ANK2,VCV002544521,2544521,NM_001148.6(ANK2):c.2282_2289del (p.Gly761fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2544521,2544521,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+4:113255780:G:T,ANK2,VCV002506786,2506786,NM_001148.6(ANK2):c.1036G>T (p.Glu346Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2506786,2506786,,,,unmatched
+4:113355370:CAAAGA:C,ANK2,VCV002499788,2499788,NM_001148.6(ANK2):c.6757_6761del (p.Lys2252_Lys2253insTer),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2499788,2499788,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+4:113357802:G:T,ANK2,VCV002430081,2430081,NM_001148.6(ANK2):c.9184G>T (p.Glu3062Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2430081,2430081,Autism spectrum disorder,Autism spectrum disorder,Autism spectrum disorder,variation_id
+4:113369632:C:T,ANK2,VCV002228433,2228433,NM_001148.6(ANK2):c.11437C>T (p.Gln3813Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2228433,2228433,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+4:113174449:AGAGCAGGCAACCTGGACAAAGTTGTGGAATATCTGAAGGGGGGCATAGACATCAATACCTGCAATCAGGTAAGAACATGGCAGCTAGCTCTGTGTTGTGCAACGAAGGAACACTCATTACATTCTCAGAGCCCAAGATTATTTTTGTCTTTATTAAAAATACTAAAATATCAGTGACTCAGACTTCTGAAATCCCATTTTTTGCCCCCTTACCAACTTTTCAAGTATCAGATGTTTGTATCTA:GAGCTAATGTTGCTGAAAAATTAGCTCC,ANK2,VCV002121821,2121821,NM_001148.6(ANK2):c.118_186+175delinsGAGCTAATGTTGCTGAAAAATTAGCTCC,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2121821,2121821,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+4:113358433:AT:A,ANK2,VCV002029441,2029441,NM_001148.6(ANK2):c.9817del (p.Ser3273fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2029441,2029441,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+4:113333109:C:CT,ANK2,VCV001729746,1729746,NM_001148.6(ANK2):c.3281dup (p.Val1095fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1729746,1729746,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+4:113242117:A:C,ANK2,VCV001695772,1695772,NM_001148.6(ANK2):c.799A>C (p.Ile267Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1695772,1695772,,,,unmatched
+4:113117420:T:C,ANK2,VCV001678114,1678114,NM_001148.6(ANK2):c.85-56996T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1678114,1678114,,,,unmatched
+4:113311281:G:T,ANK2,VCV001678112,1678112,NM_001148.6(ANK2):c.2575G>T (p.Gly859Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1678112,1678112,,,,unmatched
+4:113359094:G:GAC,ANK2,VCV001483377,1483377,NM_001148.6(ANK2):c.10480_10481dup (p.Gln3494fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1483377,1483377,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+4:113311368:C:T,ANK2,VCV001334346,1334346,NM_001148.6(ANK2):c.2662C>T (p.Arg888Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1334346,1334346,,,,unmatched
+4:113353994:AGG:A,ANK2,VCV001317290,1317290,NM_001148.6(ANK2):c.5377_5378del (p.Gly1793fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1317290,1317290,,,,unmatched
+4:113330364:C:T,ANK2,VCV000985758,985758,NM_001148.6(ANK2):c.3019C>T (p.Arg1007Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,985758,985758,"Inborn genetic diseases|Cardiac arrhythmia, ankyrin-B-related","Inborn genetic diseases|Cardiac arrhythmia, ankyrin-B-related","Inborn genetic diseases|Cardiac arrhythmia, ankyrin-B-related",variation_id
+4:113288387:G:A,ANK2,VCV000985336,985336,NM_001148.6(ANK2):c.2179-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,985336,985336,Inborn genetic diseases,Inborn genetic diseases,Inborn genetic diseases,variation_id
+4:113358977:CA:C,ANK2,VCV000985206,985206,NM_001148.6(ANK2):c.10360del (p.Arg3454fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,985206,985206,Inborn genetic diseases,Inborn genetic diseases,Inborn genetic diseases,variation_id
+4:113358096:G:T,ANK2,VCV000954568,954568,NM_001148.6(ANK2):c.9478G>T (p.Glu3160Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,954568,954568,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+4:113335953:CTGAT:C,ANK2,VCV000818077,818077,NM_001148.6(ANK2):c.3490_3493del (p.Ile1164fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,818077,818077,,,,unmatched
+17:70175686:A:G,KCNJ2,VCV004788797,4788797,NM_000891.3(KCNJ2):c.647A>G (p.Asn216Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4788797,4788797,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id
+17:70175387:CA:C,KCNJ2,VCV004784294,4784294,NM_000891.3(KCNJ2):c.351del (p.Glu118fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4784294,4784294,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id
+17:70175596:C:G,KCNJ2,VCV004783746,4783746,NM_000891.3(KCNJ2):c.557C>G (p.Pro186Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4783746,4783746,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id
+17:70176083:C:G,KCNJ2,VCV003755832,3755832,NM_000891.3(KCNJ2):c.1044C>G (p.Tyr348Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3755832,3755832,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id
+17:70175308:T:G,KCNJ2,VCV003220886,3220886,NM_000891.3(KCNJ2):c.269T>G (p.Leu90Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3220886,3220886,Andersen Tawil syndrome,Andersen Tawil syndrome,Andersen Tawil syndrome,variation_id
+17:70175941:T:A,KCNJ2,VCV002682647,2682647,NM_000891.3(KCNJ2):c.902T>A (p.Met301Lys),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2682647,2682647,Short QT syndrome type 3,Short QT syndrome type 3,Short QT syndrome type 3,variation_id
+17:70175271:G:A,KCNJ2,VCV002036326,2036326,NM_000891.3(KCNJ2):c.232G>A (p.Asp78Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2036326,2036326,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id
+17:70175263:C:A,KCNJ2,VCV002020840,2020840,NM_000891.3(KCNJ2):c.224C>A (p.Thr75Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2020840,2020840,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id
+17:70175464:C:T,KCNJ2,VCV001739158,1739158,NM_000891.3(KCNJ2):c.425C>T (p.Thr142Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1739158,1739158,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+17:70175685:A:T,KCNJ2,VCV001496231,1496231,NM_000891.3(KCNJ2):c.646A>T (p.Asn216Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1496231,1496231,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,variation_id
+17:70175676:C:G,KCNJ2,VCV000995608,995608,NM_000891.3(KCNJ2):c.637C>G (p.Arg213Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,995608,995608,,,,unmatched
+17:70175977:GCTCTTA:G,KCNJ2,VCV000981438,981438,NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,981438,981438,Andersen Tawil syndrome|Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome|Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome|Andersen Tawil syndrome;Short QT syndrome type 3,variation_id
+17:70175756:AG:A,KCNJ2,VCV000960380,960380,NM_000891.3(KCNJ2):c.721del (p.Glu241fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,960380,960380,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id
+17:70170729:ACTTGTTAGCGTTTTCCTGCTCACTTCCAAATGTTTCATTTCTATTTGCCATTATCTGGAAAAATCCTGGTGCTCAGAAGGGGTAAGAGATGTTAATTGAAGCATGGTGGAAAGGGTGAGGATAAGGTCAAGGCCATTTTACTTAGCTTCCTCCTCTCTCATATTTTAATGACACTTTATTTTTTAATGTTCTTGGTCTCCATAAGAAATATTTGATCTAAACTCATGTGAATTTTGCTTTTAAAAAAAATAAAAGAACACAGTCTTTCTACATCCTTTGGATTCCTGAGTTGTAGAATCTCTGGTTAGCTGTAGCGTCCTTGTATGACTTTTGCGTAGCCTGAAAGATTGAAAACAGCTACCTGCACAGATTAAGTGTTTCAGATTTTTTTAAGTGTATATTTTTATTTACCAAACATGTCTGTTTTTCAGCGTATGCAAATGCTGAGCAGTGCTACAAGCCAAGTGTCGTTGAGTATAAATGTTAGACAGGGGGCTCACACGTAGATAGATGGGTATCCCCCTCCCCTCCCCACTTCCCCCTCCTCCTCCCTCATGTTTATTGAGCTTCTAAGAGGCTGCTTTCCTAGCAGTTGTGCTCACATAGCAACATGTGCCCAGAGCACACTCAGGCTGTTCTATATGGCGTCAGCTGGGGAATAGCTGCTCTAAACACTCATTAGCAGACCTCTCTCTCAGCCCAGTACGTTTTCTTTTGCTATCTTTATTTCCTATCCTTAGAAACTTTCTTATTTATTGCACACCATGACCATATTACAGGACACATTTACTCTCATTTGATTTTTTTTTTTAGTTATTTATAAGCCATATTGGAAGTATTACCTATATAGTCAAAGCAATTTAGATCCCCCATTTGTACCATGTGATCTCCTTGACCTTACATTTATCCATAGCTCTTTCTCCTTTAACATCTACCTAAGTTTAAAACGCTGAACTATTTTTTTCCATTGCTTATGCTTAATTTTGGCTCAGCCTATAAATAGTCTTAACATGAACAGCACCACATGTAACCTCTCAATTTCCCAAAAATACTTTCTACATCATGGGTTATGGCCTGGATAAAAATGATTATTTGTGTCCATGAAATTTACATCTAGACCCTTAAATATTTTGGCTGGAAGGGAGATTTACACATTGTTCATCAAATCAAATTTCAATTCTCTGGATTTGTATCACTTAGTGTTCTCATCTACTCCTCATTGATTGCATCTCAAACATTATTTTGAATATATGCTTGAAATAAAGTTGCATGTAAGCCCTGTTTTTTTAATGATAGCTTTTCTCAGCTGCTCACGAATTGGTAATTGCTAGTGAGAGGACCGGGCAAGGAAGTTTTCTGCTTGCTTAAAGTCGCTCAGGCATGTGGGCAGGTTAACAGTAAAAGCAATTTTTACCATGAAATATTAAGACCGTTACCCCATCAAACCTTGACAGGTTCTAGACTTTAGCTATGTAATCAGCTCCACAAAAAGTCTGCATACATATATGTGTGTGCACCTGCATACACACATAAATCTGTTTGGGGGCATATCTATTTAAAGTGGCAAAAGTTTTCTTTTTGCCAAAAAAAAAAAAAAAAAAAAAAAAAGCCCAAAACTCCTCTTTTTCTCTTTCCAGGAAGAAATGGTAAAATTTCTAAATGATGCTCCACATGTGGAACAAATTCTGTTATTAGCAATGGAAATAAGACAATAATAGTCTCTCAATACAGGCTACTTTCAAGATTCTAAATGTGGAAAGCTATTCATAGGAAGCTGGTATTGTGTGATTTGTGGAATTCAAACAAATGTCCTGGGGTCAAGATTTTTGGAAAGTCATAATTCAGTCTTTAGATTTCATATGGTTGTTATGTTTTAATCTGGAAGGAGTACAGAAATAAGTCAGAAGAAATTTGAGACTGTCTACTCATGGCCCCTAATGGTAACTCACATGGAAGGATTGTTTTGAATCATGAAAAGGGAATTTCTTGGTGTCAGCTTATAATACAAAGTTCTGAAGTCAATCAGAACTCAAAAATACAAAGCATTCATTGAATGAAGTTCTTCTCCTTTTTTTGAAACGTATACCTGCGTTTGGTGTTGTTGCTGTCTCTGTCTGTTTAGTAATGTGAGAAAACTAAGATGAAATAATTGCTTAAAAAATGCTGTCCATGTACAGGATCTAGAACTTCGAGGGGCAGGATTCTTGTTTCTTTGGTCCAAGTGCAAACTTCACAGGGAAGCAGACAAAACATTGAAGCAGGTGGAAGGTTAGGAAAGCACAGTAACTTCTTTTTATAAAGTAATTCAAAGGCACTTTCAAACTGAGCATCATTTAGGTGTCAAAAGCTGCCAAAATGTAACACACATTGCAATTTTCAAAGATGACTAATCTCAGGAAAAATGTGTTGGGGCACATTCTTGCATAATAACTTGGATAAAGAAGAAGTCAAAAGACAGTAACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCACTATTCTATTTGTAGGTGGGAATCTGACTTTCTTCCTCTAGCATTTCGTCAGCCTATCCGGTCTGCTCAGTTATATCATTTAAACAAAATAGTCTGTCTTCCGATTTCAACCTTGCCATCAGGGACTCTAATATTCTCCCGTAATGCACATGCAACTCAGTGGATATCAATGCTGCGTCCACGTGAAGTTTTCTAAACATGTCCTTTTTCCAAAAATTTTACGACAAACCTTGGAATCAGACAGTCTTTCATCTGCTTAACAGGGATCCTAGCAAGTGGGGCAGGCAGAAGAAGAGAATAAGAGAAGGGAGAGGTAGACCTGAACAATAGAATATTCTAGATCCCTGGCCAAAAAGAAGGGAAAGGGGACCTGACCTGACATTTTGGTTGAACAACTGTCACAGACAACTCTTCTATGTTTAACGACTTTATGCTTTTAAATAAAAGTTTTACAAAGCATGCTTAGGATACAAAGAAATTTAAAACCTTATAATTTAATGTAAATTATACTTATCTTTACCTGATTATGTGTTTTTGTTAGGATATATTGTCTTAGACAGTAGAATTCTTTAAGAGTGGCTTATTTTGTAATGCACAGTCTCTCTTTTCTTGCAGGACATGTTCTCTGGATGTCAGCTGAGTCATTAAAGTAACTCTGCATGTCAGTAGACAGACCTTGGTAGAACCACAAGGCTCCCAGAGACACCCATCTCTCCTCATTTTTTTGGTGTGTGTGTCTTCACCGAACATTCAAAACTGTTTCTCCAAAGCGTTTTGCAAAAACTCAGACTGTTTTCCAAAGCAGAAGCACTGGAGTCCCCAGCAGAAGCGATGGGCAGTGTGCGAACCAACCGCTACAGCATCGTCTCTTCAGAAGAAGACGGTATGAAGTTGGCCACCATGGCAGTTGCAAATGGCTTTGGGAACGGGAAGAGTAAAGTCCACACCCGACAACAGTGCAGGAGCCGCTTTGTGAAGAAAGATGGCCACTGTAATGTTCAGTTCATCAATGTGGGTGAGAAGGGGCAACGGTACCTCGCAGACATCTTCACCACGTGTGTGGACATTCGCTGGCGGTGGATGCTGGTTATCTTCTGCCTGGCTTTCGTCCTGTCATGGCTGTTTTTTGGCTGTGTGTTTTGGTTGATAGCTCTGCTCCATGGGGACCTGGATGCATCCAAAGAGGGCAAAGCTTGTGTGTCCGAGGTCAACAGCTTCACGGCTGCCTTCCTCTTCTCCATTGAGACCCAGAC:A,KCNJ2,VCV000946743,946743,NM_000891.3(KCNJ2):c.-217+1029_422del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,946743,946743,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,variation_id
+17:70175473:A:G,KCNJ2,VCV000858285,858285,NM_000891.3(KCNJ2):c.434A>G (p.Tyr145Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,858285,858285,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id
+17:70175563:T:TCATTGG,KCNJ2,VCV000801410,801410,NM_000891.3(KCNJ2):c.526_531dup (p.Ile176_Gly177dup),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.5,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,801410,801410,,,,unmatched
+17:70175935:A:G,KCNJ2,VCV000689769,689769,NM_000891.3(KCNJ2):c.896A>G (p.Glu299Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,689769,689769,"Andersen Tawil syndrome;Short QT syndrome type 3;Atrial fibrillation, familial, 9","Andersen Tawil syndrome;Short QT syndrome type 3;Atrial fibrillation, familial, 9","Andersen Tawil syndrome;Short QT syndrome type 3;Atrial fibrillation, familial, 9",variation_id
+17:70175596:C:A,KCNJ2,VCV000652820,652820,NM_000891.3(KCNJ2):c.557C>A (p.Pro186Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,652820,652820,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id
+17:70176139:TC:T,KCNJ2,VCV000569363,569363,NM_000891.3(KCNJ2):c.1102del (p.Leu368fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,569363,569363,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,variation_id
+17:70175704:T:C,KCNJ2,VCV000546134,546134,NM_000891.3(KCNJ2):c.665T>C (p.Leu222Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,546134,546134,Andersen Tawil syndrome,Andersen Tawil syndrome,Andersen Tawil syndrome,variation_id
+17:70175194:G:T,KCNJ2,VCV000523694,523694,NM_000891.3(KCNJ2):c.155G>T (p.Gly52Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,523694,523694,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+17:70175692:G:C,KCNJ2,VCV000430545,430545,NM_000891.3(KCNJ2):c.653G>C (p.Arg218Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,430545,430545,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,variation_id
+17:70175604:A:G,KCNJ2,VCV000429589,429589,NM_000891.3(KCNJ2):c.565A>G (p.Arg189Gly),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,429589,429589,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id
+15:73323225:CTCCGGGAGTCCCAGGCCTCCCCGGGCCCCGGGTGGCGCGGGAGATGGCTGGGCAGCCTGCGGGGAGCGGGCGCCTGGCTGCAGCGGGGTGAGCAGGGGAGAGTCGGAGGAGGACAGGGAGCCACCCAGCGCCTTGTGGAAGTGGCCAAACCCGGCTATGGTGGTGGCGGCTACGCCAGCTGATGGTGTGGGAGCCGAGGGGGAGCCACAGGCCCCGGGGGGTGGGGAGGAGCTGGATGAGGGCAGGAGTGGGCTCAGTCCAGCGGGGGCAGAGAATCCAGCCAGCTGTTGGATGTGGAAGGAGGATGAAGACGGTGTGTCCACCTGGGACGGGCTGCTGGCGGGCGAGGCGGAGCCCAGCGCAGAAGGGATCAGGGACTGCAGCCGTTTCAGGTGCCTTGGCGTCTGCCCGGCACCGAGGTTGCCCAGCCCAGATCCTGGGGGAGGGCGGAAGATGGCAGCAGGCAGGCGAGGGTGGTGGGTGAGGGCTATGGCCACAGAAGTGGTGGCAGCGGCAGCCTGCAGTGGTGCCTGGATCAGCGGGGTCCAGATGACGGGCGTGGGGGTTGGGGTGGCAGAGGCAGCAGCCTGGACGCGGTGCGCGCAGTGGGCCATCTCCCGGTCATGCTGCACAATCTGCTGGATGATCTCATTCTCCTGGTAGTTGAAGACGCCGGAGTTGAGGTCGTGCTGGACTTTGTGGAGGAGGATGGAGTTCTTCTTGCCTGGGCCACAGAACAAGAACAGGCACTCAGGGCAGAGCGGGGAAGGAGATCAGGTGCAGACCTGGCTTAGGCATAAAGGAGCCCTGCCCTCCTCCCCCAACACCCCCCACCTGCCCCGCCTGTGGCCCCTCCCCCTCACCAATGCGGTCCAGGCGGTCCAGCGCCACGGTCTCGAAGGCCCTTCGCATCATGGGGTACTCCTCCAGCACCTCATTGAAGTTGTCCACGCTCAGCGAGTAGAGGCGGCAGTAGGTGTCGGCCCTCACGCTGGCTGTGCGCCGGCCCCGGGTCAGCAGGCAGATCTCTGCCAGAGCATCAGGACTCAGGATGAGGCATGCACAGCCTGCCCAGGCCAGGGGGACTGCCCACCCTGACCTTGGCCCTGACTGCCTGGCACAGAAGCCTTGGCAGGCTCACAAGGCCCTGCCCCCAGACTGCGGCCACACTGGATGCCTCTTCCCCACCAAATGGGGGCTGGACAGACTTTCCCATCTTTGGGACATACCCTCTGCTCTGGACTGAATGTGTTCCCCCAAAATTTATATGTTGAACCCCTAATCCCAGCATGATGGTATTTGGAGGTGGGGCCTAGGGAGGTGATTAGATCACGAGGGTGGAGCCCTCGTGGATGGAATTAGTGCCTTTTTAGGAGGAGGCCGGGGAGCTGGCTCATCCTCCTTCTGCCACATGAGGACACAGCGAGAAGTCAGCAGTGCAGCCCAGAAGAGGGCCCTCACCAGCCCCAACCATGCTGGCCCCCTCAGCTCAGATGGCCAGCCTCCAGAACCATGACACATACATTTCTGCAGTTTACAAGCCACCCAGTCTGCGGCACTTTTGTTACAAGAACCCAGACTGACTAAGACACCCCTACCCTGGGCTCACAGACACCTCCCTCCAGGCTGTGGCCAAGAAGGGTGCTCACTGCCTCTGTCCCCTCGGTATCTCCCCAAACCAGCCCCTGGGAGCAGCTGCCCTGTCCCCCAGGGCCCAGGGCTGCCTCACCTCCAAAGTAGGAGCCGTCGGCCAGCTTGGTCTCCTTGTTGCCCTTGGTGAGCACGCTGACCACGCCATGCTGGATGAAGTACATCTTCTTGCCAATGGTGCCTTCCCGGATGATGTAGTCCCCAGGCTGGAAGACCTCGAAACGCAGCTTGGTCAGCATGGACGTCACGAAGTTGGGGTCCGCATTGGCAAACAGTGGCATGGAGGCCACCAGCTTCCGACAGTTAAAGTTGATGATCTCCTGCCGGACAGGGTGGATTGGGACACGGGAAGGAGGTGGTGAGGGGAGCTGGCTGCCAGGAAGGCCTGGCTCCCCTCCACGCCGGGCCGCCACACAGCTCACCTCCCGCAGGGGCTCGCTTAGCTCGCCCAGGATGCTCTCCTCGTCGAACATCTTGCCCTGGTAGCGGTGCTCGTAGTAGTCGTGGATGCGCTGCCGGGTGTCGGGCGGGAGCTTGTGAAAGGACATGTACTGCTCCACCTGCTTGTACTGAGGCCGGGAGAAGGGGGCGTCAGCTCCACCCCACCAGGGGGCGTCAGCAGCCAGCCCCACCACCTCGGCAGGCACCACATCCGGGCACCCACCCCGGGGGATTTCCTGGCTAAACTTGGTTCCTTGAGATCTGAGGTCTACAGTGTGGAAATGACCTCACTGTGCTCAAAACAACTGCCCGGGCTCCCAGCTGCTTGGCATGGAGGAGGGGCCCCCACCAGCATCTGCTCCTCGCTGTGTTCAATACTAAGGAGGTGGGTGAGGGCGGCAGGGAATGTCCAAAGCCCAGTGACAGGACATCAACTGTATCTCCAGGGAGGTCGATCACATTTCCTTGGAATGTTACACTGGGGACAGGGAGGCCTCACCGACTCTGCGGGGAAAGAAGCTGTTTCCTCCCAGCAGTGACAACTGGCACAGTCAGGAGGCAAGGGTGCGATGGATCAGAACGCTCAGAGGCAGAAGCAAGGATGCCTGGCTGCTCGATGCTATGAATCCAAACGTGGCCTCAGCTGAGACCCCGGGTCATTTCGTTGAGAGCAACTCCAGGTAAGGGAAAAGCAGGGTAGACTAATTTGAGGGGACCTTCAAATAGAGGCTCGGGTACAAAAGATTTGTGAGCCTCAGACCCTGGGGCTCAAACAAATAAGAAACGATCCTGCCCGCCCTCACTGAGAGGAGTGGACATTGCTCCCACCATCCTAGATTGTGGGTGGACAGTGGGATTCCCAAGAGCAGGATGAGGGATGGGAGGTATTGATTAGGCAACAACACAGACTCCTCCCGGATGGGAAGTAGAGGAAGTCCCTATCACCCCAGCAGCAATCAGAAACGGGGCAGCCTGTTTGCATCTATGTGTGCTCCAAAGAGGTGGGAACGCACAACTGCTGCACAGAAACACCCACGGGCAAATGAGGGCTGAGAAATGACATTTCCTAAACTTCTTCCAGCCACCCTGGCCTCTGACTGCTCCAAGTTATGCAAAGTCCCAGGGGACAGTGACTTCCTGGCTGGTTACAGAGATGGAGGCAGCTGGAAAACCTGGAGCTGTGTTTTAGAGAGTCCCTCCCCTGACCCCCAGAGAACAGGTAGGGGTAGGGAGGCAGGGTCTGGACATGGGGCAGGAGTTAAAAGGTTGAAGTGGTCCAGGTGAGAGACAGACGTGGGGATGGAGAGGAGGGAAGACATTTAAGAGAAATTTATTGGGCAGACTTAGATATTAGCCAAAGGACAAACATTTTAAAGTCTCAAATGAAAAGCCACAGACGCCTTGACTCTGGCCCTAAAATAAACTCTGATGCATTTTCTTTTCTTTTTTTCTTTTTATTTATTTATTTATTTATTTATTTTTTTTGTTAAGACAGGGTCTCGTTGTGTTGCCTAGACTGGAGTGCAGTGATATGAACACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCGATTCTCCCATCTCAGCCTCCTAAACAGCTGGCACTATAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACAGGGTTTTGCCACGTTGCCCAGGCTGCTCTTGAACTCCTGGGCTCAAGAAATCAGCTCGCTTCAGCCTCTCAAAGTGCTGGGATTGCAGGCATGAGCCATCATGCCCAGCCTCCCAGACGCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGGGTGCAGTGGTGCAATCTTAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTGAGTAGCTGGGACTACAGGTGTGCACCACCACGCCCAGCTAATTTTTTTTTTACTTTTAGTAGGGATGAAGTT:C,HCN4,VCV004755562,4755562,NM_005477.3(HCN4):c.1591-1861_2867del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4755562,4755562,"Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant",variation_id
+15:73329730:C:T,HCN4,VCV002636206,2636206,NM_005477.3(HCN4):c.1433G>A (p.Cys478Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2636206,2636206,HCN4-related disorder,HCN4-related disorder,HCN4-related disorder,variation_id
+15:73323574:G:GCGGA,HCN4,VCV002028837,2028837,NM_005477.3(HCN4):c.2515_2518dup (p.Ala840fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.5,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2028837,2028837,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id
+15:73325193:C:G,HCN4,VCV001697968,1697968,NM_005477.3(HCN4):c.1740G>C (p.Glu580Asp),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1697968,1697968,Left ventricular noncompaction cardiomyopathy,Left ventricular noncompaction cardiomyopathy,Left ventricular noncompaction cardiomyopathy,variation_id
+15:73329718:C:T,HCN4,VCV001675065,1675065,NM_005477.3(HCN4):c.1445G>A (p.Gly482Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1675065,1675065,Left ventricular noncompaction cardiomyopathy,Left ventricular noncompaction cardiomyopathy,Left ventricular noncompaction cardiomyopathy,variation_id
+15:73343533:T:C,HCN4,VCV001359536,1359536,NM_005477.3(HCN4):c.1061A>G (p.Tyr354Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1359536,1359536,Brugada syndrome 8|HCN4-related disorder,Brugada syndrome 8|HCN4-related disorder,Brugada syndrome 8|HCN4-related disorder,variation_id
+15:73329692:C:G,HCN4,VCV000666148,666148,NM_005477.3(HCN4):c.1471G>C (p.Asp491His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,666148,666148,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id
+15:73324088:C:T,HCN4,VCV000470654,470654,NM_005477.3(HCN4):c.2143+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,470654,470654,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id
+15:73332261:G:C,HCN4,VCV000374861,374861,NM_005477.3(HCN4):c.1241C>G (p.Ala414Gly),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,374861,374861,"Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant",variation_id
+15:73329722:A:G,HCN4,VCV000374860,374860,NM_005477.3(HCN4):c.1441T>C (p.Tyr481His),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,374860,374860,"Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8||Cardiovascular phenotype","Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8||Cardiovascular phenotype","Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8||Cardiovascular phenotype",variation_id
+15:73329719:C:G,HCN4,VCV000374859,374859,NM_005477.3(HCN4):c.1444G>C (p.Gly482Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,374859,374859,"Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8","Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8","Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8",variation_id
+15:73325000:T:TGGTGAGCACGCTG,HCN4,VCV000374858,374858,NM_005477.3(HCN4):c.1920_1932dup (p.Lys645fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.5,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,374858,374858,"Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant",variation_id
+12:2653892:G:A,CACNA1C,VCV004689845,4689845,NM_000719.7(CACNA1C):c.4132G>A (p.Gly1378Arg),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4689845,4689845,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+12:2457652:GC:G,CACNA1C,VCV004613766,4613766,NM_000719.7(CACNA1C):c.704del (p.Ala235fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4613766,4613766,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+12:2582847:C:T,CACNA1C,VCV004536255,4536255,NM_000719.7(CACNA1C):c.2129C>T (p.Ser710Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4536255,4536255,,,,unmatched
+12:2567737:C:G,CACNA1C,VCV004531394,4531394,NM_000719.7(CACNA1C):c.1838C>G (p.Pro613Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4531394,4531394,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id
+12:2449015:G:C,CACNA1C,VCV004531392,4531392,NM_000719.7(CACNA1C):c.517G>C (p.Glu173Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4531392,4531392,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id
+12:2666696:A:G,CACNA1C,VCV004530641,4530641,NM_000719.7(CACNA1C):c.4537A>G (p.Lys1513Glu),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4530641,4530641,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id
+12:2567600:C:G,CACNA1C,VCV004292479,4292479,NM_000719.7(CACNA1C):c.1701C>G (p.Phe567Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4292479,4292479,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id
+12:2651688:C:T,CACNA1C,VCV004278773,4278773,NM_000719.7(CACNA1C):c.3994C>T (p.Arg1332Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4278773,4278773,,,,unmatched
+12:2597290:G:T,CACNA1C,VCV004086502,4086502,NM_000719.7(CACNA1C):c.2853+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4086502,4086502,,,,unmatched
+12:2486121:A:T,CACNA1C,VCV003897582,3897582,NM_000719.7(CACNA1C):c.775A>T (p.Asn259Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3897582,3897582,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id
+12:2593249:G:A,CACNA1C,VCV003894932,3894932,NM_000719.7(CACNA1C):c.2567G>A (p.Gly856Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894932,3894932,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+12:2582943:G:C,CACNA1C,VCV003775665,3775665,NM_000719.7(CACNA1C):c.2224+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3775665,3775665,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id
+12:2512930:G:C,CACNA1C,VCV003718454,3718454,NM_000719.7(CACNA1C):c.1336G>C (p.Asp446His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3718454,3718454,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+12:2665673:TA:T,CACNA1C,VCV003600410,3600410,NM_000719.7(CACNA1C):c.4495del (p.Arg1499fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3600410,3600410,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id
+12:2605112:C:T,CACNA1C,VCV003573697,3573697,NM_000719.7(CACNA1C):c.2992C>T (p.Arg998Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3573697,3573697,,,,unmatched
+12:2608531:ACT:A,CACNA1C,VCV003483968,3483968,NM_000719.7(CACNA1C):c.3379_3380del (p.Ser1127fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3483968,3483968,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+12:2120345:TACTG:T,CACNA1C,VCV003483966,3483966,NM_000719.7(CACNA1C):c.396_399del (p.Thr133fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3483966,3483966,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+12:2610590:TC:T,CACNA1C,VCV003393691,3393691,NM_000719.7(CACNA1C):c.3612del (p.Lys1205fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3393691,3393691,,,,unmatched
+12:2486140:T:A,CACNA1C,VCV003392514,3392514,NM_000719.7(CACNA1C):c.794T>A (p.Met265Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3392514,3392514,"Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8","Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8","Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8",variation_id
+12:2608641:G:A,CACNA1C,VCV003382973,3382973,NM_000719.7(CACNA1C):c.3487G>A (p.Gly1163Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3382973,3382973,Timothy syndrome;Brugada syndrome 3;Long QT syndrome 8,Timothy syndrome;Brugada syndrome 3;Long QT syndrome 8,Timothy syndrome;Brugada syndrome 3;Long QT syndrome 8,variation_id
+12:2567731:T:C,CACNA1C,VCV003382740,3382740,NM_000719.7(CACNA1C):c.1832T>C (p.Met611Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3382740,3382740,"Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8","Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8","Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8",variation_id
+12:2653855:CCTGAT:C,CACNA1C,VCV003377227,3377227,NM_000719.7(CACNA1C):c.4097_4101del (p.Leu1366fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3377227,3377227,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id
+12:2685745:C:A,CACNA1C,VCV003375805,3375805,NM_000719.7(CACNA1C):c.5583C>A (p.Tyr1861Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3375805,3375805,,,,unmatched
+12:2664838:G:A,CACNA1C,VCV003370332,3370332,NM_000719.7(CACNA1C):c.4246G>A (p.Glu1416Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3370332,3370332,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id
+12:2448974:A:G,CACNA1C,VCV003252305,3252305,NM_000719.7(CACNA1C):c.478-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3252305,3252305,,,,unmatched
+12:2595960:T:G,CACNA1C,VCV003069192,3069192,NM_000719.7(CACNA1C):c.2750T>G (p.Leu917Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3069192,3069192,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id
+12:2486134:A:T,CACNA1C,VCV003066281,3066281,NM_000719.7(CACNA1C):c.788A>T (p.Lys263Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3066281,3066281,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id
+12:2457680:C:G,CACNA1C,VCV003027509,3027509,NM_000719.7(CACNA1C):c.731C>G (p.Pro244Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3027509,3027509,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id
+12:2677138:C:T,CACNA1C,VCV002921274,2921274,NM_000719.7(CACNA1C):c.4873C>T (p.Gln1625Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2921274,2921274,,,,unmatched
+12:2688546:C:T,CACNA1C,VCV002626971,2626971,NM_000719.7(CACNA1C):c.5884C>T (p.Arg1962Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2626971,2626971,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id
+12:2585498:T:G,CACNA1C,VCV002626927,2626927,NM_000719.7(CACNA1C):c.2460+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2626927,2626927,CACNA1C-related disorder,CACNA1C-related disorder,CACNA1C-related disorder,variation_id
+12:2504884:G:GT,CACNA1C,VCV002584438,2584438,NM_000719.7(CACNA1C):c.1158dup (p.Thr387fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2584438,2584438,CACNA1C-related disorder,CACNA1C-related disorder,CACNA1C-related disorder,variation_id
+12:2664824:G:A,CACNA1C,VCV002578446,2578446,NM_000719.7(CACNA1C):c.4233-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2578446,2578446,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id
+12:2486109:C:T,CACNA1C,VCV002577479,2577479,NM_000719.7(CACNA1C):c.763C>T (p.Gln255Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2577479,2577479,Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies,Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies,Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies,variation_id
+12:2653860:T:C,CACNA1C,VCV002575833,2575833,NM_000719.7(CACNA1C):c.4100T>C (p.Ile1367Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575833,2575833,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id
+12:2120351:CTA:C,CACNA1C,VCV002506866,2506866,NM_000719.7(CACNA1C):c.400_401del (p.Ile134fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2506866,2506866,,,,unmatched
+12:2486161:C:T,CACNA1C,VCV002504611,2504611,NM_000719.7(CACNA1C):c.815C>T (p.Ala272Val),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2504611,2504611,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id
+12:2512827:G:C,CACNA1C,VCV002504609,2504609,NM_000719.7(CACNA1C):c.1233G>C (p.Glu411Asp),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2504609,2504609,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id
+12:2582832:G:A,CACNA1C,VCV002501348,2501348,NM_000719.7(CACNA1C):c.2114G>A (p.Gly705Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2501348,2501348,,,,unmatched
+12:2608677:CAGGA:C,CACNA1C,VCV002452672,2452672,NM_000719.7(CACNA1C):c.3524_3527del (p.Gln1175fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2452672,2452672,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+12:2679753:GC:G,CACNA1C,VCV002251969,2251969,NM_000719.7(CACNA1C):c.5403del (p.Ile1802fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2251969,2251969,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+12:2486116:T:C,CACNA1C,VCV001803055,1803055,NM_000719.7(CACNA1C):c.770T>C (p.Val257Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1803055,1803055,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id
+12:2677772:C:T,CACNA1C,VCV001744618,1744618,NM_000719.7(CACNA1C):c.4996C>T (p.Arg1666Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1744618,1744618,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id
+12:2688554:G:GC,CACNA1C,VCV001712194,1712194,NM_000719.7(CACNA1C):c.5897dup (p.Gln1967fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1712194,1712194,,,,unmatched
+12:2655228:C:G,CACNA1C,VCV001705745,1705745,NM_000719.7(CACNA1C):c.4222C>G (p.Leu1408Val),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1705745,1705745,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id
+12:2581663:C:T,CACNA1C,VCV001705744,1705744,NM_000719.7(CACNA1C):c.1969C>T (p.Leu657Phe),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1705744,1705744,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id
+12:2665599:G:C,CACNA1C,VCV001700075,1700075,NM_000719.7(CACNA1C):c.4417G>C (p.Ala1473Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1700075,1700075,Neurodevelopmental delay|CACNA1C-related disorder,Neurodevelopmental delay|CACNA1C-related disorder,Neurodevelopmental delay|CACNA1C-related disorder,variation_id
+12:2634334:T:G,CACNA1C,VCV001699326,1699326,NM_000719.7(CACNA1C):c.3866T>G (p.Leu1289Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1699326,1699326,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id
+12:2504886:T:TA,CACNA1C,VCV001699036,1699036,NM_000719.7(CACNA1C):c.1159dup (p.Thr387fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1699036,1699036,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id
+12:2610588:C:G,CACNA1C,VCV001695801,1695801,NM_000719.7(CACNA1C):c.3606C>G (p.Tyr1202Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1695801,1695801,,,,unmatched
+12:2567752:T:G,CACNA1C,VCV001685597,1685597,NM_000719.7(CACNA1C):c.1853T>G (p.Val618Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1685597,1685597,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id
+12:2449093:G:A,CACNA1C,VCV001685596,1685596,NM_000719.7(CACNA1C):c.595G>A (p.Asp199Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1685596,1685596,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id
+12:2504535:A:G,CACNA1C,VCV001344837,1344837,NM_001167623.2(CACNA1C):c.1213A>G (p.Ser405Gly),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1344837,1344837,Seizure,Seizure,Seizure,variation_id
+12:2448994:T:C,CACNA1C,VCV001325838,1325838,NM_000719.7(CACNA1C):c.496T>C (p.Phe166Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1325838,1325838,Neurodevelopmental delay,Neurodevelopmental delay,Neurodevelopmental delay,variation_id
+12:2677868:G:A,CACNA1C,VCV001313855,1313855,NM_000719.7(CACNA1C):c.5091+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1313855,1313855,,,,unmatched
+12:2608654:T:C,CACNA1C,VCV001309258,1309258,NM_000719.7(CACNA1C):c.3500T>C (p.Val1167Ala),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1309258,1309258,Timothy syndrome|Long QT syndrome,Timothy syndrome|Long QT syndrome,Timothy syndrome|Long QT syndrome,variation_id
+12:2608657:C:A,CACNA1C,VCV001303511,1303511,NM_000719.7(CACNA1C):c.3503C>A (p.Thr1168Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1303511,1303511,,,,unmatched
+12:2504529:G:A,CACNA1C,VCV001302971,1302971,NM_001167623.2(CACNA1C):c.1207G>A (p.Val403Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1302971,1302971,,,,unmatched
+12:2605121:C:T,CACNA1C,VCV001302480,1302480,NM_000719.7(CACNA1C):c.3001C>T (p.Arg1001Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1302480,1302480,,,,unmatched
+12:2651679:C:T,CACNA1C,VCV001214422,1214422,NM_000719.7(CACNA1C):c.3985C>T (p.Arg1329Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1214422,1214422,Hypotonia,Hypotonia,Hypotonia,variation_id
+12:2653847:G:T,CACNA1C,VCV001164022,1164022,NM_000719.7(CACNA1C):c.4087G>T (p.Val1363Leu),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1164022,1164022,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id
+12:2581667:T:C,CACNA1C,VCV000981247,981247,NM_000719.7(CACNA1C):c.1973T>C (p.Leu658Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,981247,981247,Intellectual disability,Intellectual disability,Intellectual disability,variation_id
+12:2512849:G:C,CACNA1C,VCV000978295,978295,NM_000719.7(CACNA1C):c.1255G>C (p.Gly419Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,978295,978295,,,,unmatched
+12:2053592:TC:T,CACNA1C,VCV000978276,978276,NM_000719.7(CACNA1C):c.32del (p.Pro11fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,978276,978276,Conduction disorder of the heart,Conduction disorder of the heart,Conduction disorder of the heart,variation_id
+12:2457671:T:C,CACNA1C,VCV000973262,973262,NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,973262,973262,Timothy syndrome;Brugada syndrome 3,Timothy syndrome;Brugada syndrome 3,Timothy syndrome;Brugada syndrome 3,variation_id
+12:2493386:G:A,CACNA1C,VCV000802809,802809,NM_000719.7(CACNA1C):c.1113G>A (p.Trp371Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,802809,802809,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id
+12:2665607:C:G,CACNA1C,VCV000633648,633648,NM_000719.7(CACNA1C):c.4425C>G (p.Ile1475Met),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,633648,633648,Long QT syndrome 8,Long QT syndrome 8,Long QT syndrome 8,variation_id
+12:2567644:C:A,CACNA1C,VCV000633647,633647,NM_000719.7(CACNA1C):c.1745C>A (p.Ala582Asp),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,633647,633647,Long QT syndrome 8,Long QT syndrome 8,Long QT syndrome 8,variation_id
+12:2653847:G:C,CACNA1C,VCV000522828,522828,NM_000719.7(CACNA1C):c.4087G>C (p.Val1363Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,522828,522828,CACNA1C-related disorder,CACNA1C-related disorder,CACNA1C-related disorder,variation_id
+12:2566522:A:G,CACNA1C,VCV000521136,521136,NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,521136,521136,Timothy syndrome|Cardiovascular phenotype,Timothy syndrome|Cardiovascular phenotype,Timothy syndrome|Cardiovascular phenotype,variation_id
+12:2605097:G:C,CACNA1C,VCV000450908,450908,NM_000719.7(CACNA1C):c.2977G>C (p.Val993Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,450908,450908,,,,unmatched
+12:2653847:G:A,CACNA1C,VCV000450063,450063,NM_000719.7(CACNA1C):c.4087G>A (p.Val1363Met),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,450063,450063,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures|CACNA1C-related disorder","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures|CACNA1C-related disorder","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures|CACNA1C-related disorder",variation_id
+12:2610700:G:GA,CACNA1C,VCV000432248,432248,NM_000719.7(CACNA1C):c.3717+1_3717+2insA,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,432248,432248,,,,unmatched
+7:82167142:AAGAAATATTGCACAGATGCACATTGTTAAATACCTTAAAAGATAAAAGAATTATAAAGTTTAAAAGAAGGACCTTTTGAAAGATGATAAAATTTATCTTCAAATTAACCATTTTTAAATGTTTGGTTAAAATATTGAGAAAATTTACAATTGTTTTGTGTGCTTTCACAAAACAAGAGATTTAATGTTAATGATTTATAAGTTTCAACCACGAATTTGAACTGTATTCTGCTCTGGTCTTGAAGGATTTATTTAACCTTGCTGTATCTGTGCACTAAAGCACCACCTAGTTTATTAGGAACAAAAAAAAAGCTGAGAGGAATGTATTATTTTTGTACTTTTTACTTATTTGAGTCTTAAGATTAGATAGTCTTCATTGAGGTTCTATTCTCCAAGCACAAAAACGACCACTATCTAAACCTTCTATCACTCTATGGCATTTCAAAGGGAAGGGCTATCATAAAGACTATGTATGGCTGCCAAGGTTAGATATGGGAAATAGCAATTCTCAATGTGCAAACTGTGACAGACCTGTGTCCTGTCAACATCATTCACGGTCCTTCAGGAAGGATGCTCAGGAAATGAGTTGACAGGACTCTAAGTGGTCTAACTTGTTTTCCCTTTAACAGTCTCTTTTGATGTCAATCAGTATGTCAACAGGCCCTAAATAAATTGTGAGGTAACCAAGGGGGAAATTAGGAACAGAATTTCTTCAAGAATTCTCCCACATGGTGACCACCATTTGCTAAGAATTCCTAATACTTACTGGGCAAATAATTCATTTTCTATTTCACCATAGAAGATTTAGTAATGGCTTTTGTATTATTGTGGGACTGATTTGTCCTCTTGCACAATGTTTTTTTAGCAGTACTGCTACTTGGATAGAGGCACCAAAAAAGTAGAAAATAAGGGTTACATTTCAAGATAATTTTTTTCACTTTTTGACATCTCTAAGAATACAGCATACAATTGCTGATGCATCATAATTTAAGTGGCTTTTTTGGTGGGGGCTTGGGGGAGATGAGGTCTCTCTCTGTTGCCCAGGCTGGAGTAGTACAGTGTCATGATCTTGGCTCACTGCACCCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTACCAAGTAGCTGGGATTACAGGCATGCACCACCACGCACAGCTAATTTTTGTATTTTTAGTGGAGATAGGGTTTCTCCATGTTGACAAGGCTGGTTTTGAACTTCTGGCCTAAAGTAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACCATGCCCGGCCAAGTGGCTTTTTCTTAGAAATAACTAAAATAAATAGAATGACTAAGTGCCTTACAATTGATGATTTACATTCAATAAAATATGGTAATAGCAAACTTGAATTTAGAGTTTTTGTATTGTGTTTGTGTTGTGGTTACCCATTACCTCAATATAGAAAACAAAATAATTGCCAAATGTTAGTGTTAATGAGCCCAATATTAAAGAGTTCACAATGTCTAGGAAATGAAACCTTATGTCTAGAAATTAATAAATAATAGTTAAATGAAACAACAATGATATAGGCATTACTACAACCCTACTTGCCAAGTTATTTTTTTCCACATTATTGCTCTTTAGAAAAGTGAAAACAACATACAACTAATAAATGACTACTTAAAATACTACCAAATGAATTTAAGGCAAAGAAAAAGGGTGCTTTGAACAGGGAATGTATAATCTATATATTTCAGAGGCTGAGTTTGTGTGTCTGTTTTGAGTTCTCCGAATTACTGAAGATTCAAACTAAAACAGCACCAAGGGTATTATATCTATGCTAGGCAGAATACATGATCTAGCCATACATCTATTATGACTTTACACTGCTTTTACCATGCACGCTTTATGTTGTGGGACATAAGGGAAGAGTAATTTATATTTAATGTTGTTAATCAAACATATATTTAGCTAGATTTGTTTTGCTGCTTTTTCCCTATTTGCAAAAACAAAAAAAATCGTTTTTATCTAAAAGCAACTAAGTATATTGTAAGCCTCTTCATTCACTAGATGAGCTTACAGTTTGCTCGATGCTCTAGGAGCTTATGTTTTTAGCTTAATCATTGATTTTTTCCTTAATATATCATGGATAGCAAATTGATCTTTATTAACCTGTGTATGATAAAGGTTGTAGACAAAGCCAATACCTACATAATATTAATACCAATCAAGTTAAGTGATATGATCAGTTCAGTAGAGAATCAAACAAACTGGCAGTTGTCAAATAGAGTCTCTCATTAGTAGACTGTTTAAAATATATAAATAAGTGATAAACAGTAAAAATAAATAATATCACAAGTATCAAGAATGGAAGACTATTATATACATGAATTAAATATCATTTAGTGCATTTTCCTTTGATATTCAACATAATCATAGAAACACAAAGAAGTGCTAATTCTTAAACCTCAGTTTAGTGTCTACTGAAGCACAACTACATACCTTCAAATTTGAGACTTTTGCTTTGCAAAGAGTACAATTAAGCTGTCGCTCACATTCTAAACCTATTTTAAATGTGGGAAGGTAGAGGGCAGTTGTTTACATCCCCAAAATGAGTTGTCTGGAAGTTTTCTGTGATCAGAAATTATAAAGATTTTCTTTCACTACAACTGTAATCACTCAAGTATGTAACAGAAGTACTTTCTGATTATTAAGGAATTTTTTTTTTTTTACTGTGCCCCTTGGCTATAAGAGGATAGATAAATGATAGATATGCAGACCTTACCACAAGGAGAATTTCTGCTATTTCTATAAACTAGTAACTCTTAGTTCATAAAACAAGTTTATTAAGAAAAAAAAAACATGCAACCGCTAATGTCAGCTGACATTTCTCAAAGTAGGCCAGAGTAGAAGAGAGATTACTTCTAGCTAAAGTGAAGCAAATTAAATTTTAAGAAGTTGAATATATTCATTCTCACTTTCATCATATTGCCCACCATCAAGGTGATTATAATATGTATACTGCTTCTTACAAACTCAAAGTAGTTAAAAGCAACTTTTTCCAACTTGTATATTCATAATATCGACAAAAATTATTCAGATATTAAAATTTAATGCTATTTTTAATGTATTTTATAAATAATGTACCTTTAATTATGGGAGAACATTTCAAGGGTTTTAAAGGGTTTTTTGGTTTTTGTTTTTTTTTGGTAATATGGAACATAAAGTACATTTTGGCTAACTTAATTGGCCCTGATTACCCAAAAGCAATTTATTTAAAAAGCAACAAGTATGATTATTTTTAATCCCACAACATCATAAGATTCCATCATTAAAATATATTTTAATATGCATGTAATTATCCATACACAATATGTCAAGCTATTTAAATCAAGTAGTTAAAAGGGGTTCTTACTGCAAAATCTTCTCTCCACTGGTGAGCTGCTTGAACTTTCTCCGCTTCCAATGCCAGGCGCTGAAAAACAAACAATAAATCTTAGAATTCAAATGAACACGTAATATGGAATTGTTATATAAAATGCTTGCGCTTTCTAATCAATTTTGAGGACATAAAAAGCAGAAGATGATCCTTATTTATGATTCATAAATTCTAAATCATTTAGTAATCTAACCTACTAAAGTTGATGTTTGTATATTTACTCTTCAGCAATATAAATAATATACTATTCTTGAATACCATTAAGTTTGTTACCTCTGCCATCATCAGCTATAGTGTCCTCTATGAGTGCTTTCTTTCAATGACTAATACTTCAGTTTTTAGAAAAACACTTAAGTATACTAATTTTCATAGAATCTTATTTTTAGTAAATACCTTTGGAGCATACATTTCTCTTAAAAAATGACATTGAGAGATTAATATGCACTAAACAATATACTAGGCACCTTCTTAAATGCATATTGAGTTTTTACCAAAAGCCACAAAAGCTGAAATAACTTCCCCTTTGATGAAGTACATCTTTAGTAGTTCTTTCAGCGATAATCTTTGATAGAGGATTTGTGCATCTTAAAATTGCTTTATTTCACCTTCAATCGTGTATGCTAAAGTAGTTAAGAATTATAAGCCAATTTATTTTCCTATAGCACTTTCGAAATGCTATTCCATTAAGTTCAGTGGGAGATGACATTGCTAGTGTCAGCCTGCCAATCACTTTTTATAAACTTTTTTTTCCCCTATTCCAATAGCTTTTAGACTTTTCTCTTTGTATTTTTCAACTTCACTATGATGTTCTCCATGTGATAGGCTTTCATAAGACAGTGACATTTAATGGTTAGGAACACAGAGTTGGGGACCCGACTGCCTAGATTTGAATATCAGCCCTTGCAAACTACTAGCTGTGCAACCTTGGGAAAAGTTAAGACTCTTCTCCCATTCTCTCATGTGAGTAATGTGAAAGCCTGCCTCATGGCTTATTGGAAGGACTAAATGAGTTACAAAGTGCTTAGAACAGTGCCTGGCACAAACTAAACAATATATATGTCAACTATCAACTTCAAAGAGTAATGGTTCTGTTTTCTCCCTGGATCCCCTAGAGAAAATAGTGCAGTGTTGAGTTTATTTGTGGTTTGCCTTATGCAGCTAGAAGATAGTGATAAAACTGAGCAAACAGAAAAGTAAATATAATAAATATACTAAACTCACTTATTAAGGTATAGAAATTATCAGGTTAGGTTTAAAAAATTACAAATCTCAGAGTCATTTATTGATTCATGCTGTTTGTGATCTATGAACTATTCCTTAGCGTAAGTTCTTCCTGTGGAGGTCCAGTCTACACTGGATAAACATCCTTCTAGACCAGTTTTTATATTAATGTATTGGCTTCTATCCCTGTGATTATAATCTATTCATTTTTCTAAGCTGTTGCATAGGTTTTATCAGTGACTCTATAATATTGCCTAGTGGGAGATCTCAATTTAAGAGTCCCAAAGCTAAATTTAAGTGAAAATCTATCATAGTGTGCCAAAAGGACAATGGTTTTGTTTTTCACTACTAGGTAGAAATGGAGTATATAAGAAGCTAGGAAATGTTAGAAATTGTACCACATAGAGTAACCAAAAGGCGGCTCCCTCTCCCTACAAAAACAAAAAACTAAGCAGCAAAGCCAAAAGACAAGCATATACATTTCAGGAACACTGCATCATAATACTTTTAGAAACTCAACTTCACATGAAAAATGAAGCAAAACATGAATAAAATGGCAAAAGGAATGGAAATGGAAGCAACTCTTCTATAGAAACACTTCAGTATGGGAAGATAAGGAAAGAGAAGATAGAATGAGAAAATAAGCATGAAGGCTTTTTCTTTTTTTCTTTGTTTTGATATAGGGTCTCACTCTGTCTCCCAGCCTGGAGTACAGTGGTGCAATCATAGCTCCCTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCTAAGTAGCTGGGACTACAGGTTTGCATCAAGAAACCCGGCTTTTTTTTTTTTTTTTTTTTTTTTGGTAAAGATGGGGTCTCAAACTCCTAGCCTCAAATTATCCTCCTATCTC:A,CACNA2D1,VCV004277370,4277370,NM_000722.4(CACNA2D1):c.295-2080_354+3407del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.75,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4277370,4277370,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,variation_id
+7:82084801:C:T,CACNA2D1,VCV001802181,1802181,NM_000722.4(CACNA2D1):c.626G>A (p.Gly209Asp),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1802181,1802181,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,variation_id
+7:82060485:T:TGTTC,CACNA2D1,VCV001802179,1802179,NM_000722.4(CACNA2D1):c.818_821dup (p.Ser275fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.75,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1802179,1802179,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,variation_id
+7:91993050:C:T,AKAP9,VCV004687971,4687971,NM_005751.5(AKAP9):c.571C>T (p.Gln191Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4687971,4687971,Long QT syndrome 11,Long QT syndrome 11,Long QT syndrome 11,variation_id
diff --git a/data/processed/cab_biological_gene_regime_matrix.csv b/data/processed/cab_biological_gene_regime_matrix.csv
index 45784c5..73921de 100644
--- a/data/processed/cab_biological_gene_regime_matrix.csv
+++ b/data/processed/cab_biological_gene_regime_matrix.csv
@@ -8,11 +8,11 @@ CALM1,0,0,15,0,0,0
 CALM2,0,0,13,0,0,0
 CALM3,0,0,8,0,0,0
 CASQ2,0,0,65,0,0,0
-HCN4,0,0,18,0,0,0
+HCN4,2,1,5,1,9,0
 KCNE1,2,1,0,2,9,0
-KCNH2,10,56,0,5,407,0
+KCNH2,10,55,10,3,400,0
 KCNJ2,0,0,29,0,0,0
-KCNQ1,19,35,0,2,230,0
-RYR2,0,0,183,0,0,0
+KCNQ1,14,30,26,2,214,0
+RYR2,0,0,176,0,7,0
 SCN5A,0,0,394,0,0,0
 TRDN,0,0,51,0,0,0
diff --git a/data/processed/cab_biological_regime_assignments.csv b/data/processed/cab_biological_regime_assignments.csv
index a18c235..aa5806e 100644
--- a/data/processed/cab_biological_regime_assignments.csv
+++ b/data/processed/cab_biological_regime_assignments.csv
@@ -1,1732 +1,1732 @@
-variant_key,gene,clinvar_id,variation_id,title,clinsig,review_status,review_strength,review_score,submitter_count,submitter_count_source,match_category,frequency_evidence_status,variant_type,functional_class,global_af,global_ac,global_an,popmax_af,popmax_ac,popmax_population,popmax_global_ratio,max_frequency_signal,max_frequency_source,qualifying_frequency_ac,standard_acmg_frequency_flag,standard_acmg_high_frequency_flag,popmax_only_frequency_flag,frequency_signal_ac_ge_20,weak_review_signal,gene_frequency_constraint_proxy,technical_detectability_index,frequency_pressure_score,ac_reliability_score,popmax_enrichment_score,variant_type_tension_score,technical_detectability_score,gene_constraint_score,review_fragility_score,vital_score,vital_band,vital_red_flag,predicted_revision_direction,vital_signal_reason,log10_global_af,log10_popmax_af,log10_popmax_global_ratio,allele_anchoring_state,allele_identity_score,condition_groups,condition_context_source,condition_count,condition_entropy,condition_group_primary,phenotype_environment,phenotype_detectability_score,curation_tier,gene_disease_validity_score,inheritance_model,mechanism_class,sads_gene_context_flag,collision_prone_gene_flag,sads_label_flag,sads_relevance_score,ancestry_concentrated_flag,max_credible_af,af_boundary_distance,penetrance_boundary_flag,hard_dominant_conflict_flag,disease_model_collision_flag,is_unanchored_assertion_state,is_disease_model_collision,is_sads_sensitive,is_ancestry_concentrated,is_penetrance_boundary,is_canonical_monogenic,primary_regime,regime_memberships
-3:38562456:G:A,SCN5A,VCV000440850,440850,NM_000335.4(SCN5A):c.[3919C>T;694G>A],Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,other_or_unresolved,0.0001464876505434,214.0,1460874.0,0.0056763862332695,190.0,afr,38.74992993923283,0.0056763862332695,popmax,214.0,True,True,False,True,True,0.6637931034482759,0.811340206185567,45.0,20.0,7.941354608142989,0.0,6.490721649484536,6.637931034482759,10.0,96.07000729211028,red_reclassification_priority,True,P/LP_to_VUS_or_B_review_recommended,popmax_AF_gt_1e-4; global_AF_gt_1e-5; AC_ge_20; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-3.8341989864151462,-2.24592806189834,1.5882709216285977,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,1.75407193810166,False,True,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
-6:123438063:CT:C,TRDN,VCV001325231,1325231,NM_006073.4(TRDN):c.1050del (p.Glu351fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.774748677138568e-05,40.0,1441572.0,0.0002182135583357,9.0,amr,7.864263645544536,0.0002182135583357,popmax,40.0,True,True,False,True,True,0.390625,0.6043553875236295,30.124838998003188,20.0,4.478290322877946,3.0,4.834843100189036,3.90625,8.0,74.34422242107016,red_reclassification_priority,True,P/LP_to_VUS_or_B_review_recommended,popmax_AF_gt_1e-4; global_AF_gt_1e-5; AC_ge_20; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,-4.556776346982672,-3.6611182687456405,0.8956580645755892,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-0.6611182687456405,True,False,True,False,True,True,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision|sads_sensitive
-7:150950166:A:C,KCNH2,VCV004535537,4535537,NM_000238.4(KCNH2):c.2398+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.367018818211924e-05,24.0,549574.0,0.0001315270288044,2.0,asj,3.0118264259375755,0.0001315270288044,popmax,24.0,True,True,False,True,True,0.8263888888888888,0.811340206185567,25.177837788340284,20.0,2.3941496974878667,0.0,6.490721649484536,8.26388888888889,8.0,70.32659802420157,red_reclassification_priority,True,P/LP_to_VUS_or_B_review_recommended,popmax_AF_gt_1e-4; global_AF_gt_1e-5; AC_ge_20; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,-4.3598149366273224,-3.880984990486817,0.47882993949757335,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,0.7210750008411452,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary
-10:18514531:G:T,CACNB2,VCV003774534,3774534,NM_201596.3(CACNB2):c.804+162G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,1.1632028310988434e-05,17.0,1461482.0,0.0001970877388239,17.0,sas,16.943538788860945,0.0001970877388239,popmax,17.0,True,True,False,False,True,0.25,0.811340206185567,29.129841204685352,18.987357242520268,6.145020606115558,0.0,6.490721649484536,2.5,8.0,71.25294070280572,orange_high_tension,False,,popmax_AF_gt_1e-4; global_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.25; detectability=0.81,-4.934344549462075,-3.7053403931064324,1.2290041212231118,anchored_exact,1.0,Brugada,gene_context_fallback,1,-0.0,Brugada,provocation_dependent,0.8,limited,0.25,dominant,channelopathy,True,False,False,0.5,True,0.0001,0.2946596068935677,True,False,False,False,False,False,True,True,False,ancestry_concentrated,ancestry_concentrated|penetrance_boundary
-6:123547340:CT:C,TRDN,VCV001074440,1074440,NM_006073.4(TRDN):c.423del (p.Glu142fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.4587780046988007e-05,19.0,1302460.0,0.0001336541031809,3.0,amr,9.162058557802116,0.0001336541031809,popmax,19.0,True,True,False,False,False,0.390625,0.6043553875236295,25.33460173620717,19.67948888426708,4.809965315856219,3.0,4.834843100189036,3.90625,3.0,64.5651490365195,yellow_watchlist,False,,popmax_AF_gt_1e-4; global_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,-4.8360107935553724,-3.874017703862406,0.9619930631712437,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-0.8740177038624062,True,False,True,False,True,True,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision|sads_sensitive
-1:115701413:C:T,CASQ2,VCV002565185,2565185,NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.425131422292673e-06,5.0,1459798.0,0.0001495662578522,5.0,afr,43.667292358899566,0.0001495662578522,popmax,5.0,True,True,True,False,False,0.5125,0.811340206185567,26.43375668955885,11.770381108229664,8.200781319116079,0.0,6.490721649484536,5.125,3.0,61.02064076638913,yellow_watchlist,False,,popmax_AF_gt_1e-4; type=SNV; gene_constraint=0.51; detectability=0.81,-5.46532275997258,-3.8251663722566325,1.6401562638232159,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,True,0.001,-0.8251663722566326,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
-7:150950197:A:G,KCNH2,VCV001027323,1027323,NM_000238.4(KCNH2):c.2369T>C (p.Leu790Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,7.213041178450639e-06,9.0,1247740.0,0.0002143163309044,1.0,mid,29.71233587745845,0.0002143163309044,popmax,1.0,True,True,True,False,False,0.8263888888888888,0.811340206185567,29.94874352029472,4.55340497393906,7.364683979114753,0.0,6.490721649484536,8.26388888888889,3.0,59.62144301172195,yellow_watchlist,False,,popmax_AF_gt_1e-4; type=SNV; gene_constraint=0.83; detectability=0.81,-5.141881588463915,-3.668944734457764,1.4729367958229507,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,0.33105526554223597,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-6:123529317:C:T,TRDN,VCV002635811,2635811,NM_006073.4(TRDN):c.484+1189G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,5.012186774127951e-06,7.0,1396596.0,0.000112101339611,4.0,amr,22.36575037943466,0.000112101339611,popmax,4.0,True,True,True,False,True,0.390625,0.811340206185567,23.616243142180487,10.57267893638896,6.747917367491054,0.0,6.490721649484536,3.90625,8.0,59.33381109554504,yellow_watchlist,False,,popmax_AF_gt_1e-4; weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,-5.299972753826775,-3.950389197554991,1.3495834734982108,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,True,0.001,-0.9503891975549911,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
-7:150948439:CTCA:C,KCNH2,VCV003076015,3076015,NM_000238.4(KCNH2):c.2692+2_2692+4del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,2.7727944499746288e-06,4.0,1442588.0,6.611424541607899e-05,3.0,fin,23.84389602799007,6.611424541607899e-05,popmax,3.0,True,False,True,False,True,0.8263888888888888,0.6043553875236295,18.456638672735043,9.10680994787812,6.886886097038535,3.0,4.834843100189036,8.26388888888889,8.0,58.54906670672962,yellow_watchlist,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,-5.557082323913123,-4.179704954447291,1.377377219407707,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.17970495444729126,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-1:115705205:TC:T,CASQ2,VCV001766367,1766367,NM_001232.4(CASQ2):c.925del (p.Asp309fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.84958717538094e-07,1.0,1459942.0,0.0001734906315058,1.0,mid,253.28589121907208,0.0001734906315058,popmax,1.0,True,True,True,False,False,0.5125,0.6043553875236295,27.88371068312418,4.55340497393906,10.0,3.0,4.834843100189036,5.125,3.0,58.39695875725227,yellow_watchlist,False,,popmax_AF_gt_1e-4; type=deletion; gene_constraint=0.51; detectability=0.60,-6.164335602647249,-3.760723972142199,2.403610998964032,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,True,0.001,-0.7607239721421987,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
-11:2587679:AG:A,KCNQ1,VCV001395670,1395670,NM_000218.3(KCNQ1):c.1239del (p.Lys414fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.737022748764577e-06,4.0,1461442.0,8.944543828264758e-05,4.0,amr,32.67981847911294,8.944543828264758e-05,popmax,4.0,True,False,True,False,False,0.6403508771929824,0.6043553875236295,21.410059529362677,10.57267893638896,7.571398177836384,3.0,4.834843100189036,6.4035087719298245,3.0,56.79248851570687,yellow_watchlist,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.64; detectability=0.60,-5.562721592936289,-4.048441803550404,1.5142796355672767,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.048441803550404505,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-6:123516188:TC:T,TRDN,VCV002682850,2682850,NM_006073.4(TRDN):c.502del (p.Glu168fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.751489341268484e-06,5.0,1332804.0,6.617783307303386e-05,5.0,sas,17.64041169053291,6.617783307303386e-05,popmax,5.0,True,False,True,False,True,0.390625,0.6043553875236295,18.46603235431506,11.770381108229664,6.232543582221728,3.0,4.834843100189036,3.90625,8.0,56.21005014495549,yellow_watchlist,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,-5.425796283129546,-4.179287457481868,1.2465087164443456,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.1792874574818677,False,False,True,False,True,True,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision|sads_sensitive
-6:123516150:C:A,TRDN,VCV001427034,1427034,NM_006073.4(TRDN):c.541G>T (p.Glu181Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.79663424697027e-05,91.0,1338898.0,8.552347090760583e-05,89.0,nfe,1.2583209209383106,8.552347090760583e-05,popmax,91.0,True,False,False,True,False,0.390625,0.811340206185567,20.9719197711187,20.0,0.4989570863816855,0.0,6.490721649484536,3.90625,3.0,54.86784850698492,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.39; detectability=0.81,-4.167706100505352,-4.067914681917243,0.0997914172763371,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.0679146819172425,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38580945:C:A,SCN5A,VCV003075756,3075756,NM_000335.5(SCN5A):c.3214G>T (p.Glu1072Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.068392073370004e-06,3.0,1450402.0,6.006366748753679e-05,2.0,afr,29.03880759457191,6.006366748753679e-05,popmax,2.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,17.518766713295044,7.216976134290603,7.314893895930626,0.0,6.490721649484536,6.637931034482759,8.0,53.17928942748357,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-5.684367135229046,-4.221388153306345,1.4629787791861253,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.2213881533063446,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
-6:123636725:T:C,TRDN,VCV001070395,1070395,NM_006073.4(TRDN):c.22+29A>G,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,5.278376069899409e-05,77.0,1458782.0,6.756756756756757e-05,75.0,nfe,1.2800824797762609,6.756756756756757e-05,popmax,77.0,True,False,False,True,False,0.390625,0.811340206185567,18.66911154823352,20.0,0.5361897676051981,0.0,6.490721649484536,3.90625,3.0,52.60227296532325,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.39; detectability=0.81,-4.277499670716243,-4.1702617153949575,0.10723795352103971,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.1702617153949573,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:115768378:T:C,CASQ2,VCV000427946,427946,NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,3.078341745187184e-05,45.0,1461826.0,4.9675453702477146e-05,3.0,remaining,1.6137081974876168,4.9675453702477146e-05,popmax,45.0,True,False,False,True,False,0.5125,0.811340206185567,15.663191649724624,20.0,1.0391250259135152,0.0,6.490721649484536,5.125,3.0,51.31803832512267,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.51; detectability=0.81,-4.5116831681918965,-4.303858157643766,0.20782500518270305,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.3038581576437651,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-11:2768920:G:A,KCNQ1,VCV000871731,871731,NM_000218.3(KCNQ1):c.1590+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.053657975586114e-06,3.0,1460808.0,6.709308046696784e-05,3.0,amr,32.6700208089902,6.709308046696784e-05,popmax,3.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,18.600249121064188,9.10680994787812,7.570747055485044,0.0,6.490721649484536,6.4035087719298245,3.0,51.172036545841706,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,-5.687471883856611,-4.17332226775905,1.5141494110970088,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.17332226775905044,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-6:123636745:TAGCAATACCTTC:T,TRDN,VCV002051520,2051520,NM_006073.4(TRDN):c.19_22+8del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,1.3703867642564762e-06,2.0,1459442.0,5.052801778586226e-05,2.0,eas,36.871329490654766,5.052801778586226e-05,popmax,2.0,True,False,True,False,True,0.390625,0.6043553875236295,15.829476070387653,7.216976134290603,7.833443987467161,3.0,4.834843100189036,3.90625,8.0,50.62098929233445,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,-5.863156844612114,-4.296467738800115,1.5666887974934323,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.2964677388001153,False,False,True,False,True,True,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision|sads_sensitive
-12:2651596:CT:C,CACNA1C,VCV002632714,2632714,NM_000719.7(CACNA1C):c.3946-43del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,2.0525170701003e-06,3.0,1461620.0,3.747423646243208e-05,2.0,fin,18.257689424678656,3.747423646243208e-05,popmax,2.0,True,False,True,False,True,0.7307692307692307,0.6043553875236295,12.908988100114692,7.216976134290603,6.307229075847438,3.0,4.834843100189036,7.3076923076923075,8.0,49.57572871813407,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.73; detectability=0.60,-5.687713222311061,-4.426267207139606,1.2614458151694876,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,True,0.0001,-0.42626720713960625,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
-1:115705191:C:A,CASQ2,VCV000519365,519365,NM_001232.4(CASQ2):c.939+1G>T,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.1733855056306896e-05,46.0,1449556.0,4.178991663820107e-05,46.0,nfe,1.316887477023001,4.178991663820107e-05,popmax,46.0,True,False,False,True,False,0.5125,0.811340206185567,13.974109092309089,20.0,0.5977433387582941,0.0,6.490721649484536,5.125,3.0,49.18757408055192,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.51; detectability=0.81,-4.498477166223447,-4.37892849517859,0.11954866775165883,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.3789284951785896,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:115705294:T:C,CASQ2,VCV001523438,1523438,NM_001232.4(CASQ2):c.839-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3783198556623447e-06,2.0,1451042.0,4.473272198613286e-05,2.0,amr,32.45450636719618,4.473272198613286e-05,popmax,2.0,True,False,True,False,True,0.5125,0.811340206185567,14.639070048853554,7.216976134290603,7.556375039507466,0.0,6.490721649484536,5.125,8.0,49.02814287213616,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-5.860649987486544,-4.349374674204051,1.5112750079014932,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.3493746742040507,False,False,True,False,True,True,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision|sads_sensitive
-3:38608210:AT:A,SCN5A,VCV004756593,4756593,NM_000335.5(SCN5A):c.938del (p.Asn313fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.876056334154334e-07,1.0,1454322.0,3.8337678270203954e-05,1.0,asj,55.75524930551588,3.8337678270203954e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.6043553875236295,13.13158094533609,4.55340497393906,8.731428810358667,3.0,4.834843100189036,6.637931034482759,8.0,48.88918886430561,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,-6.162660573882579,-4.4163741915354215,1.7462857620717334,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.41637419153542204,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
-1:115768444:C:T,CASQ2,VCV000862119,862119,NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.0267488613355128e-05,15.0,1460922.0,3.827311696264544e-05,1.0,asj,3.727602306299179,3.827311696264544e-05,popmax,15.0,True,False,False,False,False,0.5125,0.811340206185567,13.115111488979696,18.21361989575624,2.857147858816272,0.0,6.490721649484536,5.125,3.0,48.80160089303674,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,-4.9885357701066235,-4.417106167392593,0.5714295717632544,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.4171061673925929,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-11:2570686:G:C,KCNQ1,VCV000378906,378906,NM_000218.3(KCNQ1):c.536G>C (p.Gly179Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.054848002893226e-06,3.0,1459962.0,3.8743171516020304e-05,2.0,fin,18.854510701988296,3.8743171516020304e-05,popmax,2.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,13.234391558868406,7.216976134290603,6.377076332028593,0.0,6.490721649484536,6.4035087719298245,8.0,47.72267444660197,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,-5.687220297362662,-4.411804830815424,1.2754152664057186,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.41180483081542335,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-11:2445144:GGT:G,KCNQ1,VCV002744490,2744490,NM_000218.3(KCNQ1):c.47_48del (p.Gly16fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.0193098049448758e-06,1.0,981056.0,3.807493146512336e-05,1.0,sas,37.35360429852644,3.807493146512336e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,13.064380687913092,4.55340497393906,7.861662569102269,3.0,4.834843100189036,6.4035087719298245,8.0,47.71780010307328,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,-5.991693798202426,-4.419360869721284,1.5723325138204538,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.4193608697212837,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-4:113355492:C:T,ANK2,VCV004081881,4081881,NM_001148.6(ANK2):c.6874C>T (p.Arg2292Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,LOF,1.3682492293336216e-06,2.0,1461722.0,3.8267258533598655e-05,1.0,asj,27.96802712924517,3.8267258533598655e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,13.113615641202188,4.55340497393906,7.233309161120902,0.0,6.490721649484536,6.136363636363637,10.0,47.52741506211032,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-5.863834787801755,-4.4171726495177746,1.4466618322241802,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.41717264951777494,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
-1:115740767:G:A,CASQ2,VCV000801535,801535,NM_001232.4(CASQ2):c.381C>T (p.Gly127=),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,other_or_unresolved,8.897357347985227e-06,13.0,1461108.0,6.707807888382076e-05,3.0,amr,7.5391006251884125,6.707807888382076e-05,popmax,3.0,True,False,True,False,False,0.5125,0.811340206185567,18.59806400383485,9.10680994787812,4.386597699630847,0.0,6.490721649484536,5.125,3.0,46.70719330082835,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,-5.050738966345133,-4.173419384081802,0.8773195399261694,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.1734193840818021,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-6:123571097:T:TAAAA,TRDN,VCV001749169,1749169,NM_006073.4(TRDN):c.57_58insTTTT (p.Lys20delinsPheTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,1.573551204040332e-05,23.0,1461662.0,2.9870362626202283e-05,1.0,afr,1.898277072346201,2.9870362626202283e-05,popmax,23.0,True,False,False,True,False,0.390625,0.5866666666666666,10.692911463985178,20.0,1.391798011501853,3.0,4.6933333333333325,3.90625,3.0,46.684292808820366,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=insertion; gene_constraint=0.39; detectability=0.59,-4.8031191203895585,-4.524759505028858,0.2783596023003706,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.524759505028858,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-15:73343470:C:T,HCN4,VCV001514023,1514023,NM_005477.3(HCN4):c.1124G>A (p.Arg375His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0521436008006096e-06,3.0,1461886.0,3.744056310606911e-05,2.0,fin,18.24460327574495,3.744056310606911e-05,popmax,2.0,True,False,True,False,True,0.5,0.811340206185567,12.900203628834737,7.216976134290603,6.305672120901788,0.0,6.490721649484536,5.0,8.0,45.91357353351166,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,-5.687792252306214,-4.426657628095805,1.2611344241803575,anchored_exact,1.0,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,True,0.0001,-0.4266576280958051,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
-7:150947326:A:G,KCNH2,VCV000373047,373047,NM_000238.4(KCNH2):c.3152+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.203770165153635e-07,1.0,1388162.0,2.8064660978895374e-05,1.0,amr,38.95824322159453,2.8064660978895374e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.811340206185567,10.083595855158398,4.55340497393906,7.952996823120984,0.0,6.490721649484536,8.26388888888889,8.0,45.34460819059187,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,-6.1424401517100575,-4.551840199689963,1.590599364624197,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.551840199689963,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-3:38575364:T:TG,SCN5A,VCV000924057,924057,NM_000335.5(SCN5A):c.3595dup (p.His1199fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.851933821282381e-07,1.0,1459442.0,3.832592365476008e-05,1.0,asj,55.9343824970053,3.832592365476008e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.382680412371134,13.128584433326132,4.55340497393906,8.738394239650557,6.0,3.0614432989690723,6.637931034482759,3.0,45.11975798036759,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.66; detectability=0.38,-6.164186840276095,-4.41650736985045,1.7476788479301115,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.41650736985045006,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
-11:2572072:G:GGA,KCNQ1,VCV001455898,1455898,NM_000218.3(KCNQ1):c.745_746dup (p.Leu250fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.84671706763324e-07,1.0,1460554.0,3.828190797029324e-05,1.0,asj,55.91271361066016,3.828190797029324e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.382680412371134,13.117355690081434,4.55340497393906,8.737552851879759,6.0,3.0614432989690723,6.4035087719298245,3.0,44.87326558679914,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.64; detectability=0.38,-6.16451761846019,-4.417006425118799,1.747510570375952,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.41700642511879876,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-3:38608150:C:A,SCN5A,VCV002452890,2452890,NM_000335.5(SCN5A):c.998+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.903779266846257e-07,1.0,1448482.0,3.0111412225233363e-05,1.0,afr,43.61577687464475,3.0111412225233363e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,10.77145062355202,4.55340497393906,8.198218062193659,0.0,6.490721649484536,6.637931034482759,8.0,44.65172634365204,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-6.160913102681482,-4.521268875598385,1.6396436124387317,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.5212688755983852,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
-6:123512325:T:TG,TRDN,VCV003673082,3673082,NM_006073.4(TRDN):c.587dup (p.Glu197fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.1833916893360138e-05,16.0,1352046.0,1.5570594154409688e-05,16.0,nfe,1.3157599448231894,1.5570594154409688e-05,popmax,16.0,True,False,False,False,True,0.390625,0.382680412371134,4.3268672904939125,18.61187363214038,0.5958833060079006,6.0,3.0614432989690723,3.90625,8.0,44.50231752761127,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,-4.92687148498987,-4.807694814981124,0.11917666120158012,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.8076948149811245,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-11:2572900:T:A,KCNQ1,VCV000375594,375594,NM_000218.3(KCNQ1):c.835T>A (p.Phe279Ile),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,1.3684626827068738e-06,2.0,1461494.0,2.3186792802819512e-05,2.0,sas,16.943667629494662,2.3186792802819512e-05,popmax,2.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,8.217915747967623,7.216976134290603,6.145037118180784,0.0,6.490721649484536,6.4035087719298245,10.0,44.47415942185337,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,-5.863767041085759,-4.63475931882058,1.2290074236361568,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6347593188205799,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-7:150947380:GCCGC:G,KCNH2,VCV001454593,1454593,NM_000238.4(KCNH2):c.3096_3099del (p.Arg1033fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.432334375595314e-06,2.0,1396322.0,3.980891719745223e-05,1.0,asj,27.793014733652488,3.980891719745223e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,13.499558456497171,4.55340497393906,7.219678288254904,3.0,4.834843100189036,8.26388888888889,3.0,44.37137370776905,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,-5.843955585014026,-4.400019635065158,1.443935657650981,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.40001963506515853,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-4:113373174:G:T,ANK2,VCV003023363,3023363,NM_001148.6(ANK2):c.11694+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.843090668214118e-07,1.0,1461328.0,2.988464526926065e-05,1.0,afr,43.6712065454092,2.988464526926065e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,10.697582692286032,4.55340497393906,8.200975953741672,0.0,6.490721649484536,6.136363636363637,8.0,44.07904890581493,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-6.1647477057374,-4.524551894875205,1.6401951907483345,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.5245518948752048,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
-6:123516183:C:CT,TRDN,VCV002980846,2980846,NM_006073.4(TRDN):c.507dup (p.Gly170fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.506995472985599e-06,2.0,1327144.0,2.676874481355569e-05,2.0,sas,17.762978409977666,2.676874481355569e-05,popmax,2.0,True,False,True,False,True,0.390625,0.382680412371134,9.621630535950798,7.216976134290603,6.247578939692527,6.0,3.0614432989690723,3.90625,8.0,44.053878908903,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,-5.821888052304033,-4.5723719924039035,1.2495157879385055,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.5723719924039032,False,False,True,False,True,True,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision|sads_sensitive
-7:150948445:CTTGT:C,KCNH2,VCV003076018,3076018,NM_000238.4(KCNH2):c.2687_2690del (p.Asp896fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3790573591327384e-06,2.0,1450266.0,2.520923666431381e-05,1.0,eas,18.280036879778883,2.520923666431381e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.6043553875236295,9.035093534989963,4.55340497393906,6.309885337915842,3.0,4.834843100189036,8.26388888888889,8.0,43.99711583592279,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,-5.860417669838094,-4.598440304561373,1.2619770675831685,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5984403045613724,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-11:2587636:GC:G,KCNQ1,VCV003720989,3720989,NM_000218.3(KCNQ1):c.1201del (p.Arg401fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.368365309750013e-06,2.0,1461598.0,2.31862551879246e-05,2.0,sas,16.94448045286974,2.31862551879246e-05,popmax,2.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,8.217689177940336,7.216976134290603,6.145141285781141,3.0,4.834843100189036,6.4035087719298245,8.0,43.81815847013094,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,-5.863797944407404,-4.634769388600005,1.229028257156228,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6347693886000046,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-6:123516189:C:A,TRDN,VCV000838068,838068,NM_006073.4(TRDN):c.502G>T (p.Glu168Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.0270178963157825e-05,27.0,1332006.0,2.603458550047152e-05,27.0,nfe,1.2843786561239623,2.603458550047152e-05,popmax,27.0,True,False,False,True,False,0.390625,0.811340206185567,9.349890396693658,20.0,0.5434653991227222,0.0,6.490721649484536,3.90625,3.0,43.29032744530092,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.39; detectability=0.81,-4.693142416952339,-4.584449332383948,0.10869307982454435,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.584449332383948,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-12:2593260:C:T,CACNA1C,VCV004055971,4055971,NM_000719.7(CACNA1C):c.2578C>T (p.Arg860Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842753524018065e-07,1.0,1461400.0,3.827018752391887e-05,1.0,asj,55.92797177571708,3.827018752391887e-05,popmax,1.0,True,False,True,False,False,0.7307692307692307,0.811340206185567,13.114363536467756,4.55340497393906,8.738145349762476,0.0,6.490721649484536,7.3076923076923075,3.0,43.20432781734613,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.73; detectability=0.81,-6.164769103009198,-4.4171394097273255,1.7476290699524952,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,True,0.0001,-0.4171394097273256,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
-3:38566555:G:A,SCN5A,VCV000440848,440848,NM_198056.2(SCN5A):c.[3694C>T;4859C>T],Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,other_or_unresolved,3.4209226365187595e-06,5.0,1461594.0,2.9870362626202283e-05,1.0,afr,8.731666298344887,2.9870362626202283e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,10.692911463985178,4.55340497393906,4.705485648723811,0.0,6.490721649484536,6.637931034482759,10.0,43.08045477061535,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-5.465856747186733,-4.524759505028858,0.9410971297447622,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,0.07730048629910428,True,False,True,False,True,True,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision|sads_sensitive
-7:150952752:C:T,KCNH2,VCV003381030,3381030,NM_000238.4(KCNH2):c.1230G>A (p.Trp410Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840469310918484e-07,1.0,1461888.0,2.235935962794025e-05,1.0,amr,32.686833205169094,2.235935962794025e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.811340206185567,7.86283606399323,4.55340497393906,7.571864234571959,0.0,6.490721649484536,8.26388888888889,8.0,42.74271581087767,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,-6.164914101181898,-4.6505406388014645,1.5143728469143918,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6505406388014646,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-3:38613742:C:A,SCN5A,VCV001171509,1171509,NM_000335.5(SCN5A):c.703+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.932745436520316e-07,1.0,1442430.0,2.56068831301854e-05,1.0,eas,36.93608459818682,2.56068831301854e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,9.188026567224757,4.55340497393906,7.837254281248514,0.0,6.490721649484536,6.637931034482759,8.0,42.70733850637963,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-6.15909474636754,-4.5916432806389675,1.5674508562497027,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.5916432806389674,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
-3:38581117:TGGGGGTGGCGGGGAGTA:T,SCN5A,VCV002754396,2754396,NM_000335.5(SCN5A):c.3025_3041del (p.Tyr1009fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.972392116176787e-07,1.0,1434228.0,2.27004449287206e-05,1.0,amr,32.557568468480774,2.27004449287206e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.6043553875236295,8.01077374304839,4.55340497393906,7.563259812757562,3.0,4.834843100189036,6.637931034482759,8.0,42.60021266441681,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,-6.156618196848443,-4.6439656305516115,1.5126519625515125,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.6439656305516117,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
-3:38587561:TC:T,SCN5A,VCV001214434,1214434,NM_000335.5(SCN5A):c.2274del (p.Ile759fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.052421583812688e-06,3.0,1461688.0,3.3126842680624107e-05,2.0,remaining,16.140362097890165,3.3126842680624107e-05,popmax,2.0,True,False,True,False,False,0.6637931034482759,0.6043553875236295,11.70405131304097,7.216976134290603,6.039566367962358,3.0,4.834843100189036,6.637931034482759,3.0,42.43336794996573,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.66; detectability=0.60,-5.687733426836054,-4.479819954752671,1.2079132735924716,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.479819954752671,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
-11:2572110:G:A,KCNQ1,VCV001067403,1067403,NM_000218.3(KCNQ1):c.780+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.854366642813471e-07,1.0,1458924.0,2.520034272466105e-05,1.0,eas,36.76533263033125,2.520034272466105e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,9.031645450357535,4.55340497393906,7.827192497787115,0.0,6.490721649484536,6.4035087719298245,8.0,42.30647334349807,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,-6.164032668699268,-4.598593552773338,1.5654384995574229,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5985935527733383,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-11:2583509:CTCTG:C,KCNQ1,VCV002830594,2830594,NM_000218.3(KCNQ1):c.1000_1003del (p.Val334fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.841311671004058e-07,1.0,1461708.0,2.235935962794025e-05,1.0,amr,32.68280853202259,2.235935962794025e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,7.86283606399323,4.55340497393906,7.571596848474263,3.0,4.834843100189036,6.4035087719298245,8.0,42.226189758525415,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,-6.164860623884185,-4.6505406388014645,1.5143193696948525,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6505406388014646,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-1:237795312:A:C,RYR2,VCV000852605,852605,NM_001035.3(RYR2):c.13937A>C (p.Asp4646Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,9.531449812945298e-06,12.0,1258990.0,1.2573555298496204e-05,12.0,nfe,1.319164998619016,1.2573555298496204e-05,popmax,12.0,True,False,True,False,True,0.8035714285714286,0.811340206185567,2.237807940724398,16.849600618345303,0.601495598308596,0.0,6.490721649484536,8.035714285714286,8.0,42.21534009257712,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,-5.020841034527222,-4.900541903841445,0.12029911966171912,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,-0.2984819125134828,True,False,True,False,True,True,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision|sads_sensitive
-1:115727014:C:A,CASQ2,VCV001757434,1757434,NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.2557001542898904e-06,3.0,1329964.0,3.53090720775858e-05,3.0,sas,15.653258416096053,3.53090720775858e-05,popmax,3.0,True,False,True,False,False,0.5125,0.811340206185567,12.327442126962277,9.10680994787812,5.9730237748543935,0.0,6.490721649484536,5.125,3.0,42.022997499179326,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,-5.646718630748966,-4.452113695545919,1.1946047549708787,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.4521136955459197,False,False,True,False,True,True,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision|sads_sensitive
-7:150947827:GC:G,KCNH2,VCV001420193,1420193,NM_000238.4(KCNH2):c.2743del (p.Ala915fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,7.281115117342451e-07,1.0,1373416.0,2.8638524543215534e-05,1.0,fin,39.3325551775003,2.8638524543215534e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,10.281389726816125,4.55340497393906,7.973760802916131,3.0,4.834843100189036,8.26388888888889,3.0,41.90728749274924,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,-6.137802102524645,-4.543049360639533,1.5947521605832262,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5430493606395334,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-12:2593252:C:G,CACNA1C,VCV000633643,633643,NM_000719.7(CACNA1C):c.2570C>G (p.Pro857Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842613057074236e-07,1.0,1461430.0,2.2369362920544025e-05,1.0,amr,32.691211738483084,2.2369362920544025e-05,popmax,1.0,True,False,True,False,True,0.7307692307692307,0.811340206185567,7.8672067870637745,4.55340497393906,7.572155092590362,0.0,6.490721649484536,7.3076923076923075,8.0,41.79118081077004,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,-6.164778018227981,-4.650346384434088,1.5144310185180725,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,True,0.0001,-0.6503463844340879,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
-4:113356680:C:T,ANK2,VCV003906496,3906496,NM_001148.6(ANK2):c.8062C>T (p.Arg2688Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052244676819349e-06,3.0,1461814.0,2.987571701720841e-05,1.0,afr,14.557573859047409,2.987571701720841e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,10.69466291292472,4.55340497393906,5.815445011071998,0.0,6.490721649484536,6.136363636363637,8.0,41.69059818378395,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-5.6877708621480565,-4.524681662851162,1.1630890022143996,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.5246816628511615,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
-21:34449497:G:T,KCNE1,VCV000547162,547162,NM_000219.6(KCNE1):c.138C>A (p.Tyr46Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.000828228591091e-06,3.0,999724.0,2.9429942023014216e-05,2.0,sas,9.807270184725496,2.9429942023014216e-05,popmax,2.0,True,False,True,False,True,0.4166666666666667,0.811340206185567,10.547761979187364,7.216976134290603,4.95774070015624,0.0,6.490721649484536,4.166666666666667,8.0,41.37986712978541,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.42; detectability=0.81,-5.52275886345888,-4.531210593459676,0.991548140031248,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,0.07084939786828673,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary
-1:115726996:G:A,CASQ2,VCV000859128,859128,NM_001232.4(CASQ2):c.733C>T (p.Gln245Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.6498437597959474e-06,2.0,1212236.0,2.4118469924268005e-05,2.0,sas,14.618630499060393,2.4118469924268005e-05,popmax,2.0,True,False,True,False,True,0.5125,0.811340206185567,8.602869840903006,7.216976134290603,5.82453344499717,0.0,6.490721649484536,5.125,8.0,41.26010106967532,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-5.782557181526257,-4.617650247299917,1.1649066889994342,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.617650247299917,False,False,True,False,True,True,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision|sads_sensitive
-11:2775959:G:A,KCNQ1,VCV000666975,666975,NM_000218.3(KCNQ1):c.1591-1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.4245501270698712e-06,2.0,1403952.0,3.968253968253968e-05,1.0,asj,27.85617162380255,3.968253968253968e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,13.468488078660226,4.55340497393906,7.224607147499393,0.0,6.490721649484536,6.4035087719298245,3.0,41.14073062151304,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,-5.846322264201398,-4.401400540781544,1.4449214294998787,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.40140054078154414,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-3:38580930:C:T,SCN5A,VCV004614938,4614938,NM_000335.5(SCN5A):c.3228+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.386107049047398e-06,2.0,1442890.0,2.540779511154022e-05,1.0,eas,18.330314241376573,2.540779511154022e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,9.111757403326108,4.55340497393906,6.3158495512502615,0.0,6.490721649484536,6.637931034482759,8.0,41.109664612482725,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-5.858203227866139,-4.595033021389579,1.2631699102500522,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.5950330213895793,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
-7:150947785:TC:T,KCNH2,VCV000972416,972416,NM_000238.4(KCNH2):c.2785del (p.Glu929fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,7.232300030520306e-07,1.0,1382686.0,2.6745119015779625e-05,1.0,fin,36.98005188233825,2.6745119015779625e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,9.613002399391142,4.55340497393906,7.839837580654089,3.0,4.834843100189036,8.26388888888889,3.0,41.10497694306222,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,-6.140723565539252,-4.57275546515422,1.567967516130818,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5727554651542196,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-1:115717895:C:T,CASQ2,VCV002914884,2914884,NM_001232.4(CASQ2):c.784-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.873948285912256e-07,1.0,1454768.0,2.5218136884047006e-05,1.0,eas,36.68648664297249,2.5218136884047006e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,9.038542836767386,4.55340497393906,7.822530613204668,0.0,6.490721649484536,5.125,8.0,41.03020007339565,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-6.162793739470749,-4.598287002254073,1.5645061226409336,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.5982870022540738,False,False,True,False,True,True,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision|sads_sensitive
-1:115744827:C:G,CASQ2,VCV001515619,1515619,NM_001232.4(CASQ2):c.319+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.866537850416593e-07,1.0,1456338.0,2.521050773962588e-05,1.0,eas,36.71496840744561,2.521050773962588e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,9.03558621784762,4.55340497393906,7.824215794207941,0.0,6.490721649484536,5.125,8.0,41.028928635479154,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-6.163262181638569,-4.598418407544608,1.564843158841588,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.5984184075446082,False,False,True,False,True,True,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision|sads_sensitive
-11:2570755:G:A,KCNQ1,VCV000926958,926958,NM_000218.3(KCNQ1):c.604+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.371599119982005e-06,2.0,1458152.0,2.5191455058444177e-05,1.0,eas,18.366472626711847,2.5191455058444177e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,9.028198582011438,4.55340497393906,6.320128779391975,0.0,6.490721649484536,6.4035087719298245,8.0,40.79596275675683,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,-5.862772802200343,-4.598746746928134,1.264025755878395,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5987467469281339,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-4:113232260:G:A,ANK2,VCV002101362,2101362,NM_001148.6(ANK2):c.483+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.081932291061752e-07,1.0,1412044.0,2.239741981723705e-05,1.0,amr,31.6260990230113,2.239741981723705e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,7.879455222339948,4.55340497393906,7.500228132000161,0.0,6.490721649484536,6.136363636363637,8.0,40.560173614127336,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-6.1498482297607415,-4.649802009508604,1.5000456264000321,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.6498020095086041,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
-1:115727123:CTGTAACCATT:C,CASQ2,VCV003019374,3019374,NM_001232.4(CASQ2):c.607-11_607-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,8.92116979868351e-06,13.0,1457208.0,1.173325438959098e-05,13.0,nfe,1.3152147464010495,1.173325438959098e-05,popmax,13.0,True,False,True,False,True,0.5125,0.6043553875236295,1.5619167845981994,17.336428839648455,0.5949833480172113,3.0,4.834843100189036,5.125,8.0,40.4531720724529,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.51; detectability=0.60,-5.049578194524858,-4.930581513254062,0.11899666960344225,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.9305815132540618,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-7:150958081:CG:C,KCNH2,VCV001076966,1076966,NM_000238.4(KCNH2):c.893del (p.Pro298fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.5673706872718e-06,4.0,1121274.0,3.380434047731729e-05,1.0,sas,9.475979640116968,3.380434047731729e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,11.901880802626826,4.55340497393906,4.883120594680425,3.0,4.834843100189036,8.26388888888889,3.0,40.43713836032424,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,-5.447651760560098,-4.4710275327305515,0.976624118936085,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,0.13103245859741097,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary
-4:113282823:T:C,ANK2,VCV002664649,2664649,NM_001148.6(ANK2):c.2030T>C (p.Met677Thr),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,2.0523373385836683e-06,3.0,1461748.0,2.237236565394425e-05,1.0,amr,10.90091542575946,2.237236565394425e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,7.868518385294778,4.55340497393906,5.187314851016116,0.0,6.490721649484536,6.136363636363637,10.0,40.23632349609812,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-5.687751253577545,-4.650288091176771,1.0374629702032232,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.6502880911767708,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
-3:38551291:A:AAGTT,SCN5A,VCV001457006,1457006,NM_000335.5(SCN5A):c.5074_5077dup (p.Phe1693Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.840441235821475e-07,1.0,1461894.0,1.6557387906483872e-05,1.0,remaining,24.20511211274717,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.382680412371134,4.927316620159899,4.55340497393906,6.919535492689683,6.0,3.0614432989690723,6.637931034482759,8.0,40.09963142024048,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.66; detectability=0.38,-6.164915883645086,-4.7810081764447645,1.3839070985379367,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.7810081764447644,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
-11:2847865:C:CA,KCNQ1,VCV000405260,405260,NM_000218.3(KCNQ1):c.1894dup (p.Arg632fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,7.015476140365646e-07,1.0,1425420.0,2.484225170169424e-05,1.0,amr,35.410593371081,2.484225170169424e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.382680412371134,8.891796942507975,4.55340497393906,7.745666021199067,6.0,3.0614432989690723,6.4035087719298245,3.0,39.655820008545,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.64; detectability=0.38,-6.153942848068836,-4.604809042259513,1.5491332042398134,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6048090422595129,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-3:38581292:ATC:A,SCN5A,VCV000418944,418944,NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,4.791389735748012e-06,7.0,1460954.0,3.826432999158185e-05,1.0,asj,7.986059393172863,3.826432999158185e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.6043553875236295,13.112867803174236,4.55340497393906,4.511662678822849,3.0,4.834843100189036,6.637931034482759,3.0,39.65070959060794,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.66; detectability=0.60,-5.319538501819648,-4.4172058867643305,0.9023325357645697,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,0.18485410456363213,True,False,True,False,True,True,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision|sads_sensitive
-1:115705275:C:A,CASQ2,VCV000651334,651334,NM_001232.4(CASQ2):c.856G>T (p.Glu286Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.846004603253495e-07,1.0,1460706.0,2.2361359570661896e-05,1.0,amr,32.66332584221321,2.2361359570661896e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,7.8637100522238415,4.55340497393906,7.570302016728117,0.0,6.490721649484536,5.125,8.0,39.60313869237555,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-6.164562813178434,-4.650501794878367,1.5140604033456235,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.650501794878367,False,False,True,False,True,True,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision|sads_sensitive
-1:115705293:C:G,CASQ2,VCV004778592,4778592,NM_001232.4(CASQ2):c.839-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.880825478871049e-07,1.0,1453314.0,2.236736154603203e-05,1.0,amr,32.50675388870347,2.236736154603203e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,7.866332486038185,4.55340497393906,7.559868015950208,0.0,6.490721649484536,5.125,8.0,39.59532712541199,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-6.162359457198581,-4.650385242259184,1.5119736031900417,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.6503852422591847,False,False,True,False,True,True,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision|sads_sensitive
-3:38551460:G:A,SCN5A,VCV000523778,523778,NM_000335.5(SCN5A):c.4909C>T (p.Arg1637Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.104371429196857e-06,6.0,1461856.0,3.311587243765937e-05,2.0,remaining,8.068437747531474,3.311587243765937e-05,popmax,2.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,11.70081481806312,7.216976134290603,4.5339472626392565,0.0,6.490721649484536,6.637931034482759,3.0,39.58039089896028,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,-5.386753344204365,-4.479963798978251,0.9067894525278514,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,0.12209619234971077,True,False,True,False,True,True,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision|sads_sensitive
-3:38603712:C:T,SCN5A,VCV000505275,505275,NM_000335.5(SCN5A):c.1890G>A (p.Thr630=),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,other_or_unresolved,1.4756161804265416e-06,2.0,1355366.0,3.419271011420365e-05,1.0,amr,23.17180334286967,3.419271011420365e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,12.013504583463668,4.55340497393906,6.824799170111071,0.0,6.490721649484536,6.637931034482759,3.0,39.5203614114811,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,-5.831026591293273,-4.466066475658547,1.3649598340222142,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.46606647565854664,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
-15:73329724:C:A,HCN4,VCV000404118,404118,NM_005477.3(HCN4):c.1439G>T (p.Gly480Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840693919991244e-07,1.0,1461840.0,2.236235967619303e-05,1.0,amr,32.69014554312366,2.236235967619303e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,7.864147075654932,4.55340497393906,7.572084270756659,0.0,6.490721649484536,5.0,8.0,39.48035796983519,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,-6.164899841213027,-4.6504823716138945,1.5144168541513319,anchored_exact,1.0,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,True,0.0001,-0.6504823716138943,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
-6:123377715:C:A,TRDN,VCV003780742,3780742,NM_006073.4(TRDN):c.1246+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.053511778943564e-06,3.0,1460912.0,2.990251779199809e-05,1.0,afr,14.561642420059124,2.990251779199809e-05,popmax,1.0,True,False,True,False,True,0.390625,0.811340206185567,10.70342486961894,4.55340497393906,5.816051810922391,0.0,6.490721649484536,3.90625,8.0,39.469853303964925,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,-5.687502801690036,-4.524292242540612,1.1632103621844783,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.5242922425406118,False,False,True,False,True,True,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision|sads_sensitive
-6:123530549:CTT:C,TRDN,VCV001403180,1403180,NM_006073.4(TRDN):c.439_440del (p.Lys147fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,9.0703770555742e-07,1.0,1102490.0,2.2095541119802024e-05,1.0,remaining,24.360087374907803,2.2095541119802024e-05,popmax,1.0,True,False,True,False,True,0.390625,0.6043553875236295,7.746854885003509,4.55340497393906,6.933394208468446,3.0,4.834843100189036,3.90625,8.0,38.97474716760005,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,-6.042374658943037,-4.655695358099588,1.3866788416936893,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.6556953580995877,False,False,True,False,True,True,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision|sads_sensitive
-3:38562432:G:A,SCN5A,VCV000496571,496571,NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.856199444099349e-07,1.0,1458534.0,2.524614996213077e-05,1.0,eas,36.822315840800826,2.524614996213077e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,9.049391432957496,4.55340497393906,7.83055549406824,0.0,6.490721649484536,6.637931034482759,3.0,37.5620045849321,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,-6.163916557448343,-4.597804842404293,1.566111098813648,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.5978048424042931,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
-11:2445417:C:T,KCNQ1,VCV002440963,2440963,NM_000218.3(KCNQ1):c.319C>T (p.Gln107Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3834281903929214e-06,2.0,1445684.0,2.3213705371651425e-05,2.0,sas,16.779829811931517,2.3213705371651425e-05,popmax,2.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,8.229250952613919,7.216976134290603,6.123937758591581,0.0,6.490721649484536,6.4035087719298245,3.0,37.46439526691046,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,-5.859043378861654,-4.634255531925697,1.2247875517183162,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6342555319256964,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-1:237784169:A:C,RYR2,VCV003255050,3255050,NM_001035.3(RYR2):c.12457A>C (p.Ser4153Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.3682773114992762e-06,2.0,1461692.0,1.6563421340312053e-05,1.0,remaining,12.105302116616071,1.6563421340312053e-05,popmax,1.0,True,False,True,False,True,0.8035714285714286,0.811340206185567,4.930876705577447,4.55340497393906,5.414878163825536,0.0,6.490721649484536,8.035714285714286,8.0,37.42559577854087,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,-5.8638258743639335,-4.780849950416652,1.0829756327651072,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,True,0.0001,-0.7808499504166522,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
-11:2572980:G:A,KCNQ1,VCV002440959,2440959,NM_000218.3(KCNQ1):c.915G>A (p.Trp305Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.845723408129707e-07,1.0,1460766.0,2.5192724341210258e-05,1.0,eas,36.80062286867968,2.5192724341210258e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,9.028690917341178,4.55340497393906,7.829275846919392,0.0,6.490721649484536,6.4035087719298245,3.0,37.30560215961399,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,-6.164580651904198,-4.598724865357054,1.5658551693838785,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5987248653570547,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-11:2445200:C:A,KCNQ1,VCV002899907,2899907,NM_000218.3(KCNQ1):c.102C>A (p.Cys34Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.003045087718947e-06,3.0,998986.0,3.278043663541598e-05,1.0,sas,10.915729122331037,3.278043663541598e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,11.601331814792106,4.55340497393906,5.190263749803998,0.0,6.490721649484536,6.4035087719298245,3.0,37.23923095994952,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,-5.522438147254718,-4.484385265924494,1.0380527499607999,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.48438526592449366,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-6:123530547:GTCTTA:G,TRDN,VCV000449691,449691,NM_006073.4(TRDN):c.438_442del (p.Asp146_Lys147insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,8.154670542249349e-06,9.0,1103662.0,3.4233679093492176e-05,2.0,sas,4.198045245124528,3.4233679093492176e-05,popmax,2.0,True,False,True,False,False,0.390625,0.6043553875236295,12.02520572910473,7.216976134290603,3.1152355747598097,3.0,4.834843100189036,3.90625,3.0,37.098510538344186,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,-5.088593580248895,-4.465546424725965,0.623047114951962,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.4655464247259657,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-4:113367670:T:G,ANK2,VCV004278327,4278327,NM_001148.6(ANK2):c.11137T>G (p.Ser3713Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840721997162468e-07,1.0,1461834.0,1.6559032952475575e-05,1.0,remaining,24.206523452964174,1.6559032952475575e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,4.928287423921334,4.55340497393906,6.919662102183732,0.0,6.490721649484536,6.136363636363637,8.0,37.0284397858923,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-6.164898058683996,-4.780965029608317,1.3839324204367465,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.7809650296083169,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
-4:113354772:C:T,ANK2,VCV003359793,3359793,NM_001148.6(ANK2):c.6154C>T (p.Arg2052Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3683166284678274e-06,2.0,1461650.0,1.872308556450103e-05,1.0,fin,13.683289738411244,1.872308556450103e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,6.128492517596933,4.55340497393906,5.680952615385102,0.0,6.490721649484536,6.136363636363637,8.0,36.98993539276927,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-5.863813395243639,-4.727622577969138,1.1361905230770204,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.7276225779691373,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
-6:123516159:CT:C,TRDN,VCV001075032,1075032,NM_006073.4(TRDN):c.531del (p.Glu178fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.240414387045028e-06,3.0,1339038.0,3.33000333000333e-05,1.0,afr,14.863330475494562,3.33000333000333e-05,popmax,1.0,True,False,True,False,False,0.390625,0.6043553875236295,11.755005318964844,4.55340497393906,5.860580670631089,3.0,4.834843100189036,3.90625,3.0,36.91008406372403,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,-5.649671647128898,-4.477555332198981,1.1721161341262178,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.4775553321989812,False,False,True,False,True,True,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision|sads_sensitive
-7:150959590:T:TG,KCNH2,VCV000503669,503669,NM_000238.4(KCNH2):c.453dup (p.Thr152fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.3683035225605884e-06,2.0,1461664.0,1.8775111711914684e-05,1.0,fin,13.721443145404296,1.8775111711914684e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.382680412371134,6.1556074395176905,4.55340497393906,5.68699895230755,6.0,3.0614432989690723,8.26388888888889,3.0,36.72134355362226,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.83; detectability=0.38,-5.863817554990246,-4.726417470263939,1.13739979046151,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.7264174702639392,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-3:38620919:G:A,SCN5A,VCV000667015,667015,NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842435140557302e-07,1.0,1461468.0,2.2374367924106146e-05,1.0,amr,32.69937641368331,2.2374367924106146e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,7.869392881930953,4.55340497393906,7.572697353105923,0.0,6.490721649484536,6.637931034482759,3.0,36.12414789294324,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,-6.164789310575721,-4.650249224657871,1.5145394706211845,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.6502492246578704,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
-17:70175675:G:A,KCNJ2,VCV001480008,1480008,NM_000891.3(KCNJ2):c.636G>A (p.Trp212Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840450594161539e-07,1.0,1461892.0,1.6557387906483872e-05,1.0,remaining,24.20507899806617,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,4.927316620159899,4.55340497393906,6.919532521926111,0.0,6.490721649484536,5.0,8.0,35.89097576550961,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,-6.1649152894915025,-4.7810081764447645,1.3839065043852221,anchored_exact,1.0,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,True,0.0001,-0.7810081764447644,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
-11:2585248:C:T,KCNQ1,VCV000842027,842027,NM_000218.3(KCNQ1):c.1069C>T (p.Gln357Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3682454851319603e-06,2.0,1461726.0,2.5188916876574308e-05,1.0,eas,18.40963463110593,2.5188916876574308e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,9.027213985763447,4.55340497393906,6.325225846575167,0.0,6.490721649484536,6.4035087719298245,3.0,35.800075227692034,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,-5.8638359762463095,-4.598790506763115,1.265045169315033,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5987905067631151,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-4:113333091:C:T,ANK2,VCV002576605,2576605,NM_001148.6(ANK2):c.3262C>T (p.Arg1088Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.368095733867073e-06,2.0,1461886.0,1.6557387906483872e-05,1.0,remaining,12.102498673235353,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,4.927316620159899,4.55340497393906,5.414375218511921,0.0,6.490721649484536,6.136363636363637,8.0,35.522182098459055,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-5.8638835113618955,-4.7810081764447645,1.0828750437023842,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.7810081764447644,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
-7:150977912:A:G,KCNH2,VCV004813695,4813695,NM_000238.4(KCNH2):c.2T>C (p.Met1Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.93410107700458e-07,1.0,1442148.0,1.171042461999672e-05,1.0,sas,16.888142531826052,1.171042461999672e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.811340206185567,1.542885299143372,4.55340497393906,6.137909428275693,0.0,6.490721649484536,8.26388888888889,8.0,34.98881023973155,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,-6.159009832009677,-4.931427357124214,1.2275818856551386,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.9314273571242137,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-11:2583515:CTT:C,KCNQ1,VCV003000119,3000119,NM_000218.3(KCNQ1):c.1004_1005del (p.Phe335fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,4.105124015796517e-06,6.0,1461588.0,1.6558484567492383e-05,1.0,remaining,4.033612984689953,1.6558484567492383e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,4.927963811950888,4.55340497393906,3.028471131906448,3.0,4.834843100189036,6.4035087719298245,8.0,34.74819178991525,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,-5.38667371831006,-4.780979412363427,0.6056942263812896,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-0.1789194210354652,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary
-1:115738290:G:A,CASQ2,VCV000942279,942279,NM_001232.4(CASQ2):c.466C>T (p.Gln156Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052578860079804e-06,3.0,1461576.0,1.655958137378287e-05,1.0,remaining,8.067692125332965,1.655958137378287e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,4.928611046609361,4.55340497393906,4.533746582792739,0.0,6.490721649484536,5.125,8.0,33.6314842528257,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-5.687700148293988,-4.780950646376869,0.9067493165585478,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.7809506463768694,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-6:123516162:T:A,TRDN,VCV000583099,583099,NM_006073.4(TRDN):c.529A>T (p.Lys177Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.239026530971708e-06,3.0,1339868.0,1.8289560318969934e-05,1.0,remaining,8.168529000191663,1.8289560318969934e-05,popmax,1.0,True,False,True,False,True,0.390625,0.811340206185567,5.899574000431089,4.55340497393906,4.560719276163659,0.0,6.490721649484536,3.90625,8.0,33.41066990001834,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,-5.6499407602903995,-4.737796734837436,0.9121438552327318,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.737796734837436,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38603999:G:A,SCN5A,VCV000517279,517279,NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.7902486960258726e-06,7.0,1461302.0,2.519018590357197e-05,1.0,eas,5.258637545443709,2.519018590357197e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,9.027706271486364,4.55340497393906,3.604366189265548,0.0,6.490721649484536,6.637931034482759,3.0,33.31413011865827,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,-5.319641938671461,-4.598768627396784,0.7208732378531095,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,0.0032913639311787702,True,False,True,False,True,True,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision|sads_sensitive
-6:123570930:G:GT,TRDN,VCV004077704,4077704,NM_006073.4(TRDN):c.224dup (p.Asn75fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.843811893723814e-07,1.0,1461174.0,1.160227404571296e-05,1.0,sas,16.952917866481776,1.160227404571296e-05,popmax,1.0,True,False,True,False,True,0.390625,0.382680412371134,1.4522210262051705,4.55340497393906,6.146222289760973,6.0,3.0614432989690723,3.90625,8.0,33.11954158887428,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,-6.164701935811307,-4.93545688071161,1.2292444579521946,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.93545688071161,False,False,True,False,True,True,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision|sads_sensitive
-11:2572062:G:T,KCNQ1,VCV000405265,405265,NM_000218.3(KCNQ1):c.733G>T (p.Gly245Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.846370191451896e-07,1.0,1460628.0,1.1593396401409756e-05,1.0,sas,16.933616125912472,1.1593396401409756e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,1.4447412669586976,4.55340497393906,6.143748551865907,0.0,6.490721649484536,6.4035087719298245,8.0,33.03612521417803,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,-6.164539621739457,-4.935789314484561,1.2287497103731815,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.935789314484561,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-3:38633181:G:A,SCN5A,VCV000924596,924596,NM_000335.5(SCN5A):c.127C>T (p.Arg43Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.843886834962407e-07,1.0,1461158.0,1.657000828500414e-05,1.0,remaining,24.21136625022659,1.657000828500414e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,4.93476191496682,4.55340497393906,6.920096487107972,0.0,6.490721649484536,6.637931034482759,3.0,32.53691605998115,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,-6.164697180217685,-4.780677274433368,1.3840192974215944,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.7806772744333681,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
-1:115732931:G:T,CASQ2,VCV001367739,1367739,NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.05254796462502e-06,3.0,1461598.0,2.236035955458164e-05,1.0,amr,10.893947447761208,2.236035955458164e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,7.863273048337192,4.55340497393906,5.185926379560558,0.0,6.490721649484536,5.125,3.0,32.21832605132135,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,-5.687706685351722,-4.650521217274198,1.0371852759121116,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.6505212172741976,False,False,True,False,True,True,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision|sads_sensitive
-17:70175721:C:T,KCNJ2,VCV000403974,403974,NM_000891.3(KCNJ2):c.682C>T (p.Arg228Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.104292816666712e-06,6.0,1461884.0,1.6557387906483872e-05,1.0,remaining,4.034162671114734,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,4.927316620159899,4.55340497393906,3.028767032278017,0.0,6.490721649484536,5.0,8.0,32.00021027586151,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,-5.386761662485399,-4.7810081764447645,0.6057534064556034,anchored_exact,1.0,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-0.17894818511680197,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision
-1:237640956:A:G,RYR2,VCV001805845,1805845,NM_001035.3(RYR2):c.7175A>G (p.Tyr2392Cys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0529075329389014e-06,3.0,1461342.0,1.656781205474005e-05,1.0,remaining,8.070409757137067,1.656781205474005e-05,popmax,1.0,True,False,True,False,False,0.8035714285714286,0.811340206185567,4.933466673522359,4.55340497393906,4.534477928099714,0.0,6.490721649484536,8.035714285714286,3.0,31.54778551075995,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.80; detectability=0.81,-5.687630611680931,-4.780734840723263,0.9068955856199429,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,-0.1786748493953005,True,False,True,False,True,True,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision|sads_sensitive
-6:123530506:CT:C,TRDN,VCV002732852,2732852,NM_006073.4(TRDN):c.483del (p.Val162fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.6582867511487022e-06,4.0,1093408.0,2.22727070248118e-05,1.0,remaining,6.088287619752758,2.22727070248118e-05,popmax,1.0,True,False,True,False,False,0.390625,0.6043553875236295,7.824893037576183,4.55340497393906,3.922475804818624,3.0,4.834843100189036,3.90625,3.0,31.041866916522903,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,-5.436722255786699,-4.652226995606679,0.7844951609637247,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.6522269956066784,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-21:34449418:G:A,KCNE1,VCV000418270,418270,NM_000219.6(KCNE1):c.217C>T (p.His73Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.879216099567022e-07,1.0,1453654.0,1.1603620329542817e-05,1.0,sas,16.86762604048317,1.1603620329542817e-05,popmax,1.0,True,False,True,False,True,0.4166666666666667,0.811340206185567,1.4533548226908253,4.55340497393906,6.135269820157655,0.0,6.490721649484536,4.166666666666667,8.0,30.79941793293874,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.42; detectability=0.81,-6.162461047669836,-4.935406489752349,1.227053964031531,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,True,0.0001,-0.935406489752349,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-1:237707240:A:T,RYR2,VCV000649240,649240,NM_001035.3(RYR2):c.9872A>T (p.Asp3291Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,7.100769865468815e-07,1.0,1408298.0,1.27890321260487e-05,1.0,sas,18.0107444088528,1.27890321260487e-05,popmax,1.0,True,False,True,False,False,0.8035714285714286,0.811340206185567,2.403848526170763,4.55340497393906,6.277658315895527,0.0,6.490721649484536,8.035714285714286,3.0,30.76134775120417,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.80; detectability=0.81,-6.148694562520469,-4.8931623216840965,1.2555316631791054,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,True,0.0001,-0.8931623216840966,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
-11:2572019:C:CCG,KCNQ1,VCV000817280,817280,NM_000218.3(KCNQ1):c.692_693dup (p.Phe232fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.848423835254316e-07,1.0,1460190.0,1.1602543277486424e-05,1.0,sas,16.94189439015813,1.1602543277486424e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.382680412371134,1.4524477749782392,4.55340497393906,6.144809850868763,6.0,3.0614432989690723,6.4035087719298245,3.0,30.61561467068496,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.64; detectability=0.38,-6.1644093698822715,-4.935446802987494,1.2289619701737526,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.9354468029874938,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-1:115725554:C:A,CASQ2,VCV003575248,3575248,NM_001232.4(CASQ2):c.738-1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.955567832684809e-06,7.0,1006388.0,2.285818780287099e-05,1.0,remaining,3.2863148008051355,2.285818780287099e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,8.07844085003294,4.55340497393906,2.583545813913104,0.0,6.490721649484536,5.125,3.0,29.83111328736964,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,-5.157667409663991,-4.640958203442495,0.5167091627826208,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.640958203442495,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38566408:C:T,SCN5A,VCV000488729,488729,NM_000335.5(SCN5A):c.3837+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.791376617260729e-06,7.0,1460958.0,1.8777932174108987e-05,1.0,fin,3.919109424075093,1.8777932174108987e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,6.157075256610451,4.55340497393906,2.9659369471539314,0.0,6.490721649484536,6.637931034482759,3.0,29.80506986167073,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,-5.319539690888947,-4.726352233945231,0.5931873894307864,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-0.12429224261726858,True,False,True,False,True,True,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision|sads_sensitive
-21:34449584:C:T,KCNE1,VCV000547164,547164,NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.0952014842170511e-06,1.0,913074.0,1.5943369152769364e-05,1.0,sas,14.55746346682834,1.5943369152769364e-05,popmax,1.0,True,False,True,False,False,0.4166666666666667,0.811340206185567,4.558052904933406,4.55340497393906,5.815428544415592,0.0,6.490721649484536,4.166666666666667,3.0,28.584274739439262,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.42; detectability=0.81,-5.960505976317786,-4.7974198981316665,1.1630857088831186,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,True,0.0001,-0.7974198981316662,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-11:2588855:G:A,KCNQ1,VCV002773478,2773478,NM_000218.3(KCNQ1):c.1393+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.8510794560791e-07,1.0,1459624.0,1.160631383472609e-05,1.0,sas,16.940830957078788,1.160631383472609e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,1.4556228103999276,4.55340497393906,6.144673544502126,0.0,6.490721649484536,6.4035087719298245,3.0,28.04793175025548,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,-6.1642409956777255,-4.935305690289925,1.2289347089004252,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.9353056902899253,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
-17:70175818:G:A,KCNJ2,VCV001477795,1477795,NM_000891.3(KCNJ2):c.779G>A (p.Arg260His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,4.104309661955375e-06,6.0,1461878.0,1.15931275939623e-05,1.0,sas,2.8246225855718,1.15931275939623e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,1.4445146969411835,4.55340497393906,2.254802136965795,0.0,6.490721649484536,5.0,8.0,27.74344345733057,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,-5.386759880010018,-4.935799384263986,0.45096042739315895,anchored_exact,1.0,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-0.33373939293602345,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision
-6:123636753:C:A,TRDN,VCV000915308,915308,NM_006073.4(TRDN):c.22+1G>T,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.055515358810761e-06,3.0,1459488.0,1.6596408537192552e-05,1.0,remaining,8.074082926196981,1.6596408537192552e-05,popmax,1.0,True,False,True,False,False,0.390625,0.811340206185567,4.950318218612913,4.55340497393906,4.535466027950625,0.0,6.490721649484536,3.90625,3.0,27.43616086998713,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.39; detectability=0.81,-5.687079273823139,-4.779985883118516,0.9070932055901251,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.779985883118516,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-15:73329709:G:A,HCN4,VCV001675066,1675066,NM_005477.3(HCN4):c.1454C>T (p.Ala485Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,3.420346959995622e-06,5.0,1461840.0,1.6557936218829686e-05,1.0,remaining,4.841009573438511,1.6557936218829686e-05,popmax,1.0,True,False,True,False,False,0.5,0.811340206185567,4.927640210697314,4.55340497393906,3.424679707448827,0.0,6.490721649484536,5.0,3.0,27.396446541569738,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.50; detectability=0.81,-5.465929836877009,-4.7809937946422325,0.6849359414897653,anchored_exact,1.0,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,-0.17893380331427042,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision
-1:237330939:C:T,RYR2,VCV000404190,404190,NM_001035.3(RYR2):c.230C>T (p.Ala77Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0524243921061023e-06,3.0,1461686.0,1.15931275939623e-05,1.0,sas,5.648501835219441,1.15931275939623e-05,popmax,1.0,True,False,True,False,False,0.8035714285714286,0.811340206185567,1.4445146969411835,4.55340497393906,3.759666370977259,0.0,6.490721649484536,8.035714285714286,3.0,27.284021977056327,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.80; detectability=0.81,-5.687732832598735,-4.935799384263986,0.7519332741954518,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,-0.33373939293602345,True,False,True,False,True,True,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision|sads_sensitive
-1:115738223:C:T,CASQ2,VCV001746831,1746831,NM_001232.4(CASQ2):c.532+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.006952298070145e-07,1.0,1427154.0,1.168688497767805e-05,1.0,sas,16.678962267139422,1.168688497767805e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,1.5232231551520896,4.55340497393906,6.110845130886591,0.0,6.490721649484536,5.125,3.0,26.80319490946228,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,-6.1544708390863345,-4.932301230265192,1.2221690261773182,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.9323012302651916,False,False,True,False,True,True,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision|sads_sensitive
-1:115744914:T:C,CASQ2,VCV000408869,408869,NM_001232.4(CASQ2):c.235-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.372949328559131e-06,2.0,1456718.0,1.162385214460072e-05,1.0,sas,8.466331886019208,1.162385214460072e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,1.4703775753869388,4.55340497393906,4.63847644556688,0.0,6.490721649484536,5.125,3.0,25.27798064437741,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,-5.862345490973913,-4.934649922900711,0.9276952891133761,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.9346499229007108,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-21:34449622:T:TA,KCNE1,VCV000430060,430060,NM_000219.6(KCNE1):c.12dup (p.Asn5Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,2.628017292353784e-06,2.0,761030.0,3.923091710114907e-06,2.0,nfe,1.4927950545584636,3.923091710114907e-06,popmax,0.0,False,False,False,False,False,0.4166666666666667,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.42; detectability=0.38,-5.580371781445164,-5.406371539249691,0.17400018764202313,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,-0.8043115479217289,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary
-4:113358978:A:AG,ANK2,VCV001208780,1208780,NM_001148.6(ANK2):c.10367dup (p.Thr3457fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,3.420660515862971e-06,,,3.420660515862971e-06,,,2.923411145366478e-07,3.420660515862971e-06,global,0.0,False,False,False,False,True,0.6136363636363636,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.61; detectability=0.38,-5.465890025318979,-5.465890025318979,-6.534110101643173,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-0.8638300339910164,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision
-7:150947376:C:CG,KCNH2,VCV000857501,857501,NM_000238.4(KCNH2):c.3103dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.4431722079668878e-06,2.0,1385836.0,1.8602055527135749e-06,2.0,nfe,1.2889697109428708,1.8602055527135749e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.83; detectability=0.38,-5.840681843191019,-5.730439063590216,0.11024271213623696,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1283790722622535,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-11:2588804:C:CA,KCNQ1,VCV001068919,1068919,NM_000218.3(KCNQ1):c.1344dup (p.Glu449fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.3687567582364937e-06,2.0,1461180.0,1.7986646713479913e-06,2.0,nfe,1.3140861927718974,1.7986646713479913e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.64; detectability=0.38,-5.863673723481508,-5.745049795496874,0.11862385214731218,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1429898041689115,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150948455:C:CGCCT,KCNH2,VCV000519280,519280,NM_000238.4(KCNH2):c.2677_2680dup (p.Arg894fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,8.697558073595258e-07,1.0,1149748.0,1.1272305073664514e-06,1.0,nfe,1.2960306810228792,1.1272305073664514e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.83; detectability=0.38,-6.060602662786437,-5.947987265993787,0.11261528273921749,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.3459272746658248,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:82443436:G:GGCCAGCAGGCA,CACNA2D1,VCV001802180,1802180,NM_000722.4(CACNA2D1):c.13_23dup (p.Leu9fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,duplication,LOF,6.870028675499691e-07,1.0,1455598.0,9.019003039404024e-07,1.0,nfe,1.3128038232984225,9.019003039404024e-07,popmax,0.0,False,False,False,False,True,0.75,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.75; detectability=0.38,-6.163041450191499,-6.0448414667169414,0.11819983284926416,anchored_exact,1.0,Brugada,gene_context_fallback,1,-0.0,Brugada,provocation_dependent,0.8,limited,0.25,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.442781475388979,False,False,False,False,False,False,False,False,False,unknown_or_insufficient,unknown_or_insufficient
-3:38581146:T:TGCAGCTGG,SCN5A,VCV002104041,2104041,NM_000335.5(SCN5A):c.3005_3012dup (p.Ile1005fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.846370191451896e-07,1.0,1460628.0,8.996883479562679e-07,1.0,nfe,1.314109533501488,8.996883479562679e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.66; detectability=0.38,-6.164539621739457,-6.0459079041190815,0.1186315659944688,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4438479127911195,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-11:2445314:G:GC,KCNQ1,VCV001787905,1787905,NM_000218.3(KCNQ1):c.221dup (p.Val75fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1325352.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.64; detectability=0.38,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-11:2847842:A:AC,KCNQ1,VCV001306529,1306529,NM_000218.3(KCNQ1):c.1875dup (p.Gly626fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1417300.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.64; detectability=0.38,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150958081:C:CG,KCNH2,VCV003645049,3645049,NM_000238.4(KCNH2):c.893dup (p.Pro299fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1121302.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.83; detectability=0.38,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150947472:T:TC,KCNH2,VCV000864600,864600,NM_000238.4(KCNH2):c.3007dup (p.Asp1003fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1424464.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.83; detectability=0.38,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-6:123512339:T:TC,TRDN,VCV000532312,532312,NM_006073.4(TRDN):c.573dup (p.Lys192fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1354634.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-7:150947795:GC:G,KCNH2,VCV001074305,1074305,NM_000238.4(KCNH2):c.2775del (p.Pro926fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,7.97089897247866e-06,,,7.97089897247866e-06,,,1.2545634789706644e-07,7.97089897247866e-06,global,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,-5.098492695320329,-5.098492695320329,-6.9015073591646745,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-0.49643270399236605,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary
-6:123503830:CCT:C,TRDN,VCV003592999,3592999,NM_006073.4(TRDN):c.680_681del (p.Gln227fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,4.12401745284186e-06,6.0,1454892.0,5.414810589925564e-06,6.0,nfe,1.3129940255709134,5.414810589925564e-06,popmax,0.0,False,False,False,False,True,0.390625,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,-5.384679505450385,-5.266416730393942,0.11826274995277866,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-2.2664167303939426,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38613790:C:CTGAAT,SCN5A,VCV002861576,2861576,NM_000335.5(SCN5A):c.655_656insATTCA (p.Arg219fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,4.113674539782661e-06,6.0,1458550.0,5.403010557482629e-06,6.0,nfe,1.3134267652446132,5.403010557482629e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.5866666666666666,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=insertion; gene_constraint=0.66; detectability=0.59,-5.385770071213905,-5.267364183848557,0.11840586217207445,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-0.6653041925205951,True,False,True,False,True,True,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision|sads_sensitive
-7:150947387:AC:A,KCNH2,VCV000917819,917819,NM_000238.4(KCNH2):c.3092del (p.Gly1031fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.604154292403596e-06,5.0,1387288.0,4.655415458586356e-06,5.0,nfe,1.2916803192133486,4.655415458586356e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,-5.443196625321954,-5.332041555644992,0.11115504246668188,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-0.7299815643170293,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary
-11:2570664:GTGGTCCGCCTC:G,KCNQ1,VCV000519537,519537,NM_000218.3(KCNQ1):c.524_534del (p.Leu175fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.0543273721318167e-06,3.0,1460332.0,2.6979242171073577e-06,3.0,nfe,1.3132882034373443,2.6979242171073577e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,-5.687330347213235,-5.568970253535253,0.11836004324685971,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-0.9669102622072909,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary
-7:150947472:TC:T,KCNH2,VCV000837649,837649,NM_000238.4(KCNH2):c.3007del (p.Asp1003fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.404040829507322e-06,2.0,1424460.0,1.8277793212358715e-06,2.0,nfe,1.3017990510134867,1.8277793212358715e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,-5.8526202627390465,-5.738076240415614,0.11454395061364096,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.136016249087652,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150950047:GCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGC:G,KCNH2,VCV004537402,4537402,NM_000238.4(KCNH2):c.2398+86_2398+120del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,1.3735848641936646e-06,2.0,1456044.0,1.802292155162936e-06,2.0,nfe,1.3121081121644589,1.802292155162936e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,-5.862144503398529,-5.744174807646243,0.11796962054425542,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1421148163182806,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-3:38587442:CA:C,SCN5A,VCV003385945,3385945,NM_000335.5(SCN5A):c.2393del (p.Leu798fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3683877792024215e-06,2.0,1461574.0,1.7988749835852655e-06,2.0,nfe,1.3145942227279572,1.7988749835852655e-06,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.66; detectability=0.60,-5.863790813066815,-5.744999017769321,0.11879171934638616,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.1429390264413588,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:115702951:CCTGAATAGGT:C,CASQ2,VCV002988469,2988469,NM_001232.4(CASQ2):c.974_983del (p.Asp325fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3685694343702527e-06,2.0,1461380.0,1.7988458604959058e-06,2.0,nfe,1.3143984520779486,1.7988458604959058e-06,popmax,0.0,False,False,False,False,False,0.5125,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.51; detectability=0.60,-5.863733163764354,-5.745006048885716,0.11872703897356557,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-2.745006048885716,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-11:2572033:TC:T,KCNQ1,VCV000656121,656121,NM_000218.3(KCNQ1):c.706del (p.Ile235_Leu236insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3692440403653143e-06,2.0,1460660.0,1.798784381514972e-06,2.0,nfe,1.3137059682429495,1.798784381514972e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,-5.863519140661796,-5.745020891979852,0.11849817294146892,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.14296090065189,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-11:2445114:TC:T,KCNQ1,VCV000523933,523933,NM_000218.3(KCNQ1):c.20del (p.Pro7fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.0542451288603822e-06,1.0,948546.0,1.1995470510335298e-06,1.0,nfe,1.1378254263358936,1.1995470510335298e-06,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,-5.977058396966116,-5.920982712595298,0.05607563447129593,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.3189227212673353,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150948442:AC:A,KCNH2,VCV003076027,3076027,NM_000238.4(KCNH2):c.2692+1del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,8.761063032344092e-07,1.0,1141414.0,1.1032048099729716e-06,1.0,nfe,1.2592131191010063,1.1032048099729716e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,-6.057443195079471,-5.957343853304137,0.10009923973186871,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.3552838619761753,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-11:2445294:TCCCCGGCCGCG:T,KCNQ1,VCV000449221,449221,NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,8.033277046838826e-07,1.0,1244822.0,9.895679744137304e-07,1.0,nfe,1.2318356964514732,9.895679744137304e-07,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,-6.095107255090803,-6.004554368310682,0.09055278503372446,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.40249437698272,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-3:38581308:CAG:C,SCN5A,VCV001332487,1332487,NM_000335.5(SCN5A):c.2849_2850del (p.Pro950fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.857957974433533e-07,1.0,1458160.0,9.016856110813556e-07,1.0,nfe,1.314801431623534,9.016856110813556e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,-6.163805180569505,-6.044944860654155,0.11886016829204983,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4428848693261924,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-7:150947652:CA:C,KCNH2,VCV000858435,858435,NM_000238.4(KCNH2):c.2918del (p.Leu973fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.85348348858758e-07,1.0,1459112.0,9.000819074535783e-07,1.0,nfe,1.3133198549796452,9.000819074535783e-07,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,-6.164088629189619,-6.045717967964516,0.11837051004651916,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4436579766365543,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-12:2584592:GAGA:G,CACNA1C,VCV000411734,411734,NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,missense,6.845132973553145e-07,1.0,1460892.0,8.998033029979646e-07,1.0,nfe,1.3145149874508737,8.998033029979646e-07,popmax,0.0,False,False,False,False,False,0.7307692307692307,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.73; detectability=0.60,-6.16461811084344,-6.045852416959342,0.11876554208186885,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-1.4437924256313794,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
-3:38557229:AC:A,SCN5A,VCV001327132,1327132,NM_000335.5(SCN5A):c.4296+1del,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,6.843736954126432e-07,1.0,1461190.0,8.99647877820621e-07,1.0,nfe,1.314556022966598,8.99647877820621e-07,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.66; detectability=0.60,-6.164706691352855,-6.045927440163924,0.11877909934066631,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4438674488359615,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38604874:CG:C,SCN5A,VCV003629463,3629463,NM_000335.5(SCN5A):c.1372del (p.Arg458fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.843924306197174e-07,1.0,1461150.0,8.99566948471006e-07,1.0,nfe,1.3144017873702387,8.99566948471006e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,-6.164694802401345,-6.045966509617412,0.11872814099646971,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4439065182894497,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-6:123570976:CACGTGATTATCAGGGCA:C,TRDN,VCV001677487,1677487,NM_006073.4(TRDN):c.162_178del (p.Ile54fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.84147080675992e-07,1.0,1461674.0,8.994148407046376e-07,1.0,nfe,1.314650827955176,8.994148407046376e-07,popmax,0.0,False,False,False,False,True,0.390625,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,-6.16485052187741,-6.046039950676286,0.11881041926773844,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.0460399506762856,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-11:2768851:GAACACCATCGGGCCACCATT:G,KCNQ1,VCV002009452,2009452,NM_000218.3(KCNQ1):c.1525_1544del (p.His509fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.841161902937595e-07,1.0,1461740.0,8.99363071073066e-07,1.0,nfe,1.3146345155964867,8.99363071073066e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,-6.16487013144062,-6.046064949054553,0.11880503045181316,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440049577265899,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-4:113359097:ACAGT:A,ANK2,VCV000570614,570614,NM_001148.6(ANK2):c.10483_10486del (p.Ser3495fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.841218065194071e-07,1.0,1461728.0,8.993468942853699e-07,1.0,nfe,1.3146000772302235,8.993468942853699e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.61; detectability=0.60,-6.164866566131348,-6.0460727607526765,0.11879365345831436,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4440127694247145,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
-4:113358978:AG:A,ANK2,VCV001342783,1342783,NM_001148.6(ANK2):c.10367del (p.Gly3456fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.84114318239035e-07,1.0,1461744.0,8.993291004910337e-07,1.0,nfe,1.3145884568203765,8.993291004910337e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.61; detectability=0.60,-6.16487131987054,-6.046081353458328,0.11878981449446016,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4440213621303657,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
-7:150951697:AG:A,KCNH2,VCV000405341,405341,NM_000238.4(KCNH2):c.1695del (p.Cys566fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840890465030052e-07,1.0,1461798.0,8.992999848917603e-07,1.0,nfe,1.3145944594412535,8.992999848917603e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,-6.164887363356165,-6.0460954138826875,0.11879179754790824,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440354225547252,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150949032:CA:C,KCNH2,VCV000418689,418689,NM_000238.4(KCNH2):c.2415del (p.Phe805fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840675202005138e-07,1.0,1461844.0,8.992918975598614e-07,1.0,nfe,1.3146240047652844,8.992918975598614e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,-6.16490102956165,-6.046099319475336,0.11880155814511069,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440393281473738,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150951021:TC:T,KCNH2,VCV000810745,810745,NM_000238.4(KCNH2):c.2044del (p.Glu682fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840656484121468e-07,1.0,1461848.0,8.992789581313703e-07,1.0,nfe,1.3146086864763482,8.992789581313703e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,-6.164902217907022,-6.046105568350519,0.11879649762051017,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.444045577022557,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150948956:TGTAGGTCACA:T,KCNH2,VCV000503760,503760,NM_000238.4(KCNH2):c.2482_2491del (p.Cys828fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840478669335365e-07,1.0,1461886.0,8.992757233324281e-07,1.0,nfe,1.3146381301144725,8.992757233324281e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,-6.164913507025877,-6.046107130555266,0.11880622451985212,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440471392273042,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-3:38551026:GCT:G,SCN5A,VCV002428920,2428920,NM_000335.5(SCN5A):c.5341_5342del (p.Ser1781fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840441235821475e-07,1.0,1461894.0,8.992708711776492e-07,1.0,nfe,1.3146382309816362,8.992708711776492e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,-6.164915883645086,-6.046109473851851,0.11880625784160807,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4440494825238885,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-11:2445203:CT:C,KCNQ1,VCV003862980,3862980,NM_000218.3(KCNQ1):c.107del (p.Phe36fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,998778.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-11:2445284:GC:G,KCNQ1,VCV003076068,3076068,NM_000218.3(KCNQ1):c.191del (p.Pro64fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1165068.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-11:2572978:TG:T,KCNQ1,VCV001457672,1457672,NM_000218.3(KCNQ1):c.919del (p.Val307fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1460810.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-11:2445270:GC:G,KCNQ1,VCV000635221,635221,NM_000218.3(KCNQ1):c.176del (p.Pro59fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1083286.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-11:2445294:TC:T,KCNQ1,VCV000405258,405258,NM_000218.3(KCNQ1):c.200del (p.Pro67fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1244822.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150958217:GC:G,KCNH2,VCV004727450,4727450,NM_000238.4(KCNH2):c.757del (p.Ala253fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1219196.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150977840:TG:T,KCNH2,VCV004528252,4528252,NM_000238.4(KCNH2):c.73del (p.Gln25fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,982894.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150958426:GC:G,KCNH2,VCV003720792,3720792,NM_000238.4(KCNH2):c.548del (p.Gly183fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1297264.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150958200:CG:C,KCNH2,VCV003644294,3644294,NM_000238.4(KCNH2):c.774del (p.Asp259fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1212186.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150948519:CG:C,KCNH2,VCV003376533,3376533,NM_000238.4(KCNH2):c.2616del (p.Gly873fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1461446.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150947431:C:CGGGGGGGGGGGGG,KCNH2,VCV003076044,3076044,NM_000238.4(KCNH2):c.3048_3049insCCCCCCCCCCCCC (p.Ala1017fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,0.0,0.0,1294084.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.5866666666666666,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=insertion; gene_constraint=0.83; detectability=0.59,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150947425:T:TGGGGGGG,KCNH2,VCV003076029,3076029,NM_000238.4(KCNH2):c.3054_3055insCCCCCCC (p.Thr1019fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,0.0,0.0,1287706.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.5866666666666666,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=insertion; gene_constraint=0.83; detectability=0.59,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150958228:TG:T,KCNH2,VCV002584422,2584422,NM_000238.4(KCNH2):c.746del (p.Pro249fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1225122.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150974709:AC:A,KCNH2,VCV001382290,1382290,NM_000238.4(KCNH2):c.307+1del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,0.0,0.0,1438648.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150958305:CT:C,KCNH2,VCV001070517,1070517,NM_000238.4(KCNH2):c.669del (p.Leu225fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1328332.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150947808:GC:G,KCNH2,VCV000653333,653333,NM_000238.4(KCNH2):c.2762del (p.Gly921fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1378096.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150977867:TC:T,KCNH2,VCV000638156,638156,NM_000238.4(KCNH2):c.46del (p.Asp16fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1392070.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150947425:TG:T,KCNH2,VCV000523705,523705,NM_000238.4(KCNH2):c.3054del (p.Thr1019fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1287714.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150947678:CG:C,KCNH2,VCV000418247,418247,NM_000238.4(KCNH2):c.2892del (p.Gly965fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1451776.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-3:38603785:GC:G,SCN5A,VCV001254662,1254662,NM_000335.5(SCN5A):c.1816del (p.Ala606fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1413208.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.66; detectability=0.60,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-12:2585484:AC:A,CACNA1C,VCV001334090,1334090,NM_000719.7(CACNA1C):c.2451del (p.Ala818fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1402792.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.73; detectability=0.60,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
-1:115705187:C:G,CASQ2,VCV001455253,1455253,NM_001232.4(CASQ2):c.939+5G>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,3.47015940524244e-06,5.0,1440856.0,4.575293779613589e-06,5.0,nfe,1.3184678070505331,4.575293779613589e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,-5.459650574999586,-5.33958101465353,0.12006953011656153,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-2.33958101465353,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:115726991:C:T,CASQ2,VCV002202832,2202832,NM_001232.4(CASQ2):c.737+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.4284758230741907e-06,5.0,1458374.0,4.505194489246101e-06,5.0,nfe,1.3140516100110182,4.505194489246101e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,-5.464898908745636,-5.346286455787436,0.11861242268405969,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-2.3462864557874368,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:115744903:G:A,CASQ2,VCV002914975,2914975,NM_001232.4(CASQ2):c.244C>T (p.Gln82Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.423808617315433e-06,5.0,1460362.0,4.501244143881369e-06,5.0,nfe,1.3146890881773796,4.501244143881369e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-5.465490519335655,-5.346667430637412,0.11882305833602977,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-2.3466674306374116,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:115702947:G:A,CASQ2,VCV001425730,1425730,NM_001232.4(CASQ2):c.988C>T (p.Gln330Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.4213767620090325e-06,5.0,1461400.0,4.497138920218957e-06,5.0,nfe,1.314423671701846,4.497138920218957e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-5.4657990986731795,-5.347063696520862,0.11873537178801932,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-2.3470636965208613,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:115725508:C:T,CASQ2,VCV000427947,427947,NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.738473082178839e-06,4.0,1460668.0,3.598442594045297e-06,4.0,nfe,1.3140323720654798,3.598442594045297e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,-5.5624915236118255,-5.443885421221095,0.11860606449029754,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-2.443885421221095,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:115738281:C:A,CASQ2,VCV000654552,654552,NM_001232.4(CASQ2):c.475G>T (p.Glu159Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.7365508786380734e-06,4.0,1461694.0,3.597652891253746e-06,4.0,nfe,1.314666796320421,3.597652891253746e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-5.562796472934832,-5.443980740569425,0.11881569438006946,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-2.443980740569425,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:237388137:G:T,RYR2,VCV002626900,2626900,NM_001035.3(RYR2):c.727G>T (p.Glu243Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052595712538076e-06,3.0,1461564.0,2.698200839680101e-06,3.0,nfe,1.3145309174463802,2.698200839680101e-06,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,-5.68769658258466,-5.568925726895951,0.11877080506273381,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,-0.9668657355679884,True,False,True,False,True,True,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision|sads_sensitive
-7:150959571:C:T,KCNH2,VCV000419715,419715,NM_000238.4(KCNH2):c.472+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.0523569951851703e-06,3.0,1461734.0,2.698021271199702e-06,3.0,nfe,1.3145963216598953,2.698021271199702e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,-5.68774709406998,-5.568954630672922,0.11879241275718556,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-0.9668946393449595,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary
-17:70175754:G:T,KCNJ2,VCV000463523,463523,NM_000891.3(KCNJ2):c.715G>T (p.Glu239Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052146408333356e-06,3.0,1461884.0,2.6978320221869704e-06,3.0,nfe,1.3146390026523511,2.6978320221869704e-06,popmax,0.0,False,False,False,False,True,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,-5.687791658149379,-5.568985094733933,0.11880651276515058,anchored_exact,1.0,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-0.9669251034059707,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision
-15:73343471:G:A,HCN4,VCV000571947,571947,NM_005477.3(HCN4):c.1123C>T (p.Arg375Cys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0521492158737845e-06,3.0,1461882.0,2.6978320221869704e-06,3.0,nfe,1.314637204098756,2.6978320221869704e-06,popmax,0.0,False,False,False,False,False,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.50; detectability=0.81,-5.687791063991733,-5.568985094733933,0.11880591860779292,anchored_exact,1.0,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,-0.9669251034059707,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision
-3:38585690:C:A,SCN5A,VCV000406420,406420,NM_000335.5(SCN5A):c.2787+1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.5024444771643463e-06,1.0,665582.0,2.0315788618282585e-06,1.0,nfe,1.3521820876073176,2.0315788618282585e-06,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,-5.823201568381257,-5.6921663145671575,0.13103517852745789,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.0901063232391948,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:115726990:A:T,CASQ2,VCV001033372,1033372,NM_001232.4(CASQ2):c.737+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.5389374252653512e-06,2.0,1299598.0,1.9958008350430693e-06,2.0,nfe,1.296869193904846,1.9958008350430693e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-5.812779038657447,-5.699882800001281,0.11289617405620116,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-2.6998828000012813,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-7:150958430:G:T,KCNH2,VCV000372376,372376,NM_000238.4(KCNH2):c.545C>A (p.Ser182Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.5324754535744223e-06,2.0,1305078.0,1.915719822144572e-06,2.0,nfe,1.2500817338343122,1.915719822144572e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,-5.814606473065701,-5.717668007049792,0.09693840932227195,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.115608015721829,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-1:115740727:C:T,CASQ2,VCV002997913,2997913,NM_001232.4(CASQ2):c.420+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3897903223340694e-06,2.0,1439066.0,1.832653113586008e-06,2.0,nfe,1.318654163495695,1.832653113586008e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,-5.857050716812234,-5.7369197309527955,0.12013091034609931,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-2.736919730952795,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-12:2566466:G:A,CACNA1C,VCV000372313,372313,NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.385381180704965e-06,2.0,1443646.0,1.8129572051451725e-06,2.0,nfe,1.3086339859103944,1.8129572051451725e-06,popmax,0.0,False,False,False,False,False,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.73; detectability=0.81,-5.858430716202212,-5.741612447304745,0.11681819496408928,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-1.1395524559767827,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
-3:38575391:C:T,SCN5A,VCV004757644,4757644,NM_000335.5(SCN5A):c.3569G>A (p.Trp1190Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3728588550082577e-06,2.0,1456814.0,1.802120013984452e-06,2.0,nfe,1.3126766052705447,1.802120013984452e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-5.862374110718113,-5.744216290118542,0.11815774524735485,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.1421562987905798,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38557230:C:T,SCN5A,VCV001739478,1739478,NM_000335.5(SCN5A):c.4296+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3704318367760864e-06,2.0,1459394.0,1.8015648392193456e-06,2.0,nfe,1.3145962289239144,1.8015648392193456e-06,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,-5.863142560743384,-5.744350102784581,0.11879238212061255,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.1422901114566184,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38579405:C:A,SCN5A,VCV003376789,3376789,NM_000335.5(SCN5A):c.3316G>T (p.Glu1106Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.370383008347003e-06,2.0,1459446.0,1.8000990054452994e-06,2.0,nfe,1.313573417728825,1.8000990054452994e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-5.863158034913302,-5.744703608043295,0.1184543512168256,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.1426436167153324,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38554314:A:G,SCN5A,VCV002505148,2505148,NM_000335.5(SCN5A):c.4775T>C (p.Ile1592Thr),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,1.3689291414897782e-06,2.0,1460996.0,1.7997555931904448e-06,2.0,nfe,1.3147176314138331,1.7997555931904448e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-5.863619031235198,-5.744786468083148,0.11883248720832675,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.1427264767551852,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-11:2445453:G:A,KCNQ1,VCV002801649,2801649,NM_000218.3(KCNQ1):c.355G>A (p.Gly119Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.3843723740186531e-06,2.0,1444698.0,1.7994155498294154e-06,2.0,nfe,1.299805806439304,1.7994155498294154e-06,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,-5.858747075898401,-5.744868530841418,0.11387847269792188,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.142808539513456,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-1:115768427:C:A,CASQ2,VCV000488772,488772,NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.368531975749613e-06,2.0,1461420.0,1.7992245342257486e-06,2.0,nfe,1.3147111294415277,1.7992245342257486e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,-5.863745050844741,-5.744914635492492,0.1188303393876778,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-2.744914635492492,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38606149:C:T,SCN5A,VCV000463294,463294,NM_000335.5(SCN5A):c.1141-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3687398969886353e-06,2.0,1461198.0,1.7989623585116103e-06,2.0,nfe,1.314319870524441,1.7989623585116103e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-5.86367907344012,-5.744977923737119,0.11870107382181504,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.142917932409157,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38585786:C:A,SCN5A,VCV002844180,2844180,NM_000335.5(SCN5A):c.2692G>T (p.Glu898Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.368183708762943e-06,2.0,1461792.0,1.7986646713479913e-06,2.0,nfe,1.314636583662941,1.7986646713479913e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-5.863855585111937,-5.745049795496874,0.11880571364484684,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.1429898041689115,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-11:2776984:A:C,KCNQ1,VCV003384908,3384908,NM_000218.3(KCNQ1):c.1686-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3682061722516842e-06,2.0,1461768.0,1.7986582009820674e-06,2.0,nfe,1.3146102706229643,1.7986582009820674e-06,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,-5.863848454717783,-5.745051357794347,0.11879702095930023,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1429913664663844,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-4:113355864:C:T,ANK2,VCV002499833,2499833,NM_001148.6(ANK2):c.7246C>T (p.Arg2416Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681743491936664e-06,2.0,1461802.0,1.7986290849114804e-06,2.0,nfe,1.31461956683513,1.7986290849114804e-06,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-5.863858556074949,-5.745058388063428,0.1188000920439111,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.1429983967354658,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
-4:113311389:C:T,ANK2,VCV003337797,3337797,NM_001148.6(ANK2):c.2683C>T (p.Arg895Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681537585920056e-06,2.0,1461824.0,1.7985837951197228e-06,2.0,nfe,1.3146062489090642,1.7985837951197228e-06,popmax,0.0,False,False,False,False,False,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.61; detectability=0.81,-5.863865092122038,-5.745069323811355,0.11879569234437509,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.1430093324833928,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
-7:150952811:G:A,KCNH2,VCV003340202,3340202,NM_000238.4(KCNH2):c.1171C>T (p.Gln391Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681780930060105e-06,2.0,1461798.0,1.7985611510791366e-06,2.0,nfe,1.3145663168463837,1.7985611510791366e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,-5.863857367692184,-5.7450747915820575,0.11878250015250426,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1430148002540952,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-11:2662047:G:T,KCNQ1,VCV002773480,2773480,NM_000218.3(KCNQ1):c.1480G>T (p.Glu494Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3680994772491897e-06,2.0,1461882.0,1.7985417423552984e-06,2.0,nfe,1.3146276697246606,1.7985417423552984e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.64; detectability=0.81,-5.863882323047414,-5.745079478187869,0.11880276888628769,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1430194868599073,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-4:113373351:C:T,ANK2,VCV000985692,985692,NM_001148.6(ANK2):c.11761C>T (p.Gln3921Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681575022916638e-06,,,1.3681575022916638e-06,,,7.309094657709624e-07,1.3681575022916638e-06,global,0.0,False,False,False,False,False,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.61; detectability=0.81,-5.8638639037571565,-5.8638639037571565,-6.136136413672907,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.261803912429194,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
-1:237491910:G:A,RYR2,VCV004800056,4800056,NM_001035.3(RYR2):c.1813G>A (p.Gly605Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,8.828400611631594e-07,1.0,1132708.0,1.188591424075157e-06,1.0,nfe,1.346326622494387,1.188591424075157e-06,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,-6.054117967821953,-5.924967407588051,0.12915043369103862,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,-1.3229074162600885,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-6:123265339:C:A,TRDN,VCV003780743,3780743,NM_006073.4(TRDN):c.1784-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.908301660585183e-07,1.0,1264494.0,1.009801129765504e-06,1.0,nfe,1.2768871196595997,1.009801129765504e-06,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,-6.101916772966249,-5.995764147751594,0.10615250613124208,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-2.9957641477515944,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-6:123547339:C:A,TRDN,VCV002434223,2434223,NM_006073.4(TRDN):c.424+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.672194738715736e-07,1.0,1303408.0,9.723786131158318e-07,1.0,nfe,1.2674057148253322,9.723786131158318e-07,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,-6.115080382261232,-6.01216460177021,0.10291566105931012,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.0121646017702104,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-7:150948443:C:T,KCNH2,VCV003253477,3253477,NM_000238.4(KCNH2):c.2692+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.140001142400183e-07,1.0,1400560.0,9.379947922529134e-07,1.0,nfe,1.3137175468574929,9.379947922529134e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,-6.146301718736703,-6.027799572817206,0.11850200066728123,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4257395814892433,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150947870:G:A,KCNH2,VCV000927383,927383,NM_000238.4(KCNH2):c.2701C>T (p.Gln901Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.256662341695911e-07,1.0,1378044.0,9.289001265161972e-07,1.0,nfe,1.2800648600031863,9.289001265161972e-07,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,-6.139263084518002,-6.032030977970395,0.10723197560711273,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4299709866424328,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-1:115740830:T:C,CASQ2,VCV003236407,3236407,NM_001232.4(CASQ2):c.320-2A>G,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.904131984910329e-07,1.0,1448408.0,9.091454578183782e-07,1.0,nfe,1.3168130953931796,9.091454578183782e-07,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,-6.160890914892737,-6.04136662670755,0.11952413684504527,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.0413666267075494,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38622399:C:G,SCN5A,VCV001743359,1743359,NM_000335.5(SCN5A):c.482+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.915447588514272e-07,1.0,1446038.0,9.088017448993502e-07,1.0,nfe,1.3141614033014393,9.088017448993502e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-6.160179705803235,-6.04153084778685,0.11864870788618453,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4394708564588883,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-7:150947500:C:T,KCNH2,VCV003544410,3544410,NM_000238.4(KCNH2):c.2980G>A (p.Val994Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.956705638131652e-07,1.0,1437462.0,9.081860255599876e-07,1.0,nfe,1.3054824615540808,9.081860255599876e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,-6.1575963727297065,-6.041825184959691,0.11577104168830236,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.439765193631729,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-3:38609733:C:T,SCN5A,VCV001072847,1072847,NM_000335.5(SCN5A):c.934+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.89303389994072e-07,1.0,1450740.0,9.06547630919076e-07,1.0,nfe,1.315164452857862,9.06547630919076e-07,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,-6.161589585640299,-6.042609372702631,0.11898006195364752,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4405493813746684,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38556452:G:A,SCN5A,VCV002506125,2506125,NM_000335.5(SCN5A):c.4423C>T (p.Gln1475Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.918940461133544e-07,1.0,1445308.0,9.058397678151508e-07,1.0,nfe,1.3092170162275525,9.058397678151508e-07,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,-6.159960406571302,-6.042948617011904,0.11701164130882298,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4408886256839415,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:115768539:C:T,CASQ2,VCV002811031,2811031,NM_001232.4(CASQ2):c.3G>A (p.Met1Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.879301283127276e-07,1.0,1453636.0,9.052477210388624e-07,1.0,nfe,1.3159002170161198,9.052477210388624e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-6.162455669946475,-6.043232559845933,0.11922295854672765,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.0432325598459324,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-12:2448979:C:T,CACNA1C,VCV001208559,1208559,NM_000719.7(CACNA1C):c.481C>T (p.Arg161Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.877020984541832e-07,1.0,1454118.0,9.03404389099884e-07,1.0,nfe,1.3136561273761245,9.03404389099884e-07,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,-6.162599650449773,-6.044117803793188,0.11848169587234009,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-1.442057812465226,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
-3:38620870:C:T,SCN5A,VCV004614939,4614939,NM_000335.5(SCN5A):c.584G>A (p.Trp195Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.886388364758219e-07,1.0,1452140.0,9.031253556056088e-07,1.0,nfe,1.3114640015997934,9.031253556056088e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-6.16200848846908,-6.044251964559872,0.11775637413252348,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4421919732319097,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38556580:T:G,SCN5A,VCV004723996,4723996,NM_000335.5(SCN5A):c.4297-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.868782892884078e-07,1.0,1455862.0,9.02880731261162e-07,1.0,nfe,1.3144692893514494,9.02880731261162e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-6.163120210499755,-6.044369615330105,0.11875044390681275,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4423096240021422,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:115732900:C:A,CASQ2,VCV003485292,3485292,NM_001232.4(CASQ2):c.606+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.861675483919663e-07,1.0,1457370.0,9.025515131276118e-07,1.0,nfe,1.3153510391036438,9.025515131276118e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-6.163569825317389,-6.044528001357354,0.11904167221773877,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.044528001357354,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:115705285:G:T,CASQ2,VCV002794330,2794330,NM_001232.4(CASQ2):c.846C>A (p.Tyr282Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.86050803434096e-07,1.0,1457618.0,9.023935085420568e-07,1.0,nfe,1.3153445614821466,9.023935085420568e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-6.163643722727445,-6.044604037490281,0.1190395334714152,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.044604037490281,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38556579:C:T,SCN5A,VCV002203336,2203336,NM_000335.5(SCN5A):c.4297-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.857092702407663e-07,1.0,1458344.0,9.01297146853752e-07,1.0,nfe,1.3144008278267272,9.01297146853752e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-6.163859979180978,-6.045132003733958,0.11872782395140151,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4430720124059953,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:115732970:G:T,CASQ2,VCV002865838,2865838,NM_001232.4(CASQ2):c.537C>A (p.Tyr179Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.853596219008038e-07,1.0,1459088.0,9.012305401795612e-07,1.0,nfe,1.31497420683443,9.012305401795612e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-6.164081485698723,-6.045164099674874,0.11891723424072807,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.045164099674875,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-6:123636754:C:G,TRDN,VCV003225249,3225249,NM_006073.4(TRDN):c.22G>C (p.Gly8Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.851398644519292e-07,1.0,1459556.0,9.005195998090898e-07,1.0,nfe,1.3143583261953748,9.005195998090898e-07,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,-6.1642207625816,-6.045506830322182,0.11871378065348921,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.0455068303221817,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38609765:C:T,SCN5A,VCV003338801,3338801,NM_000335.5(SCN5A):c.903G>A (p.Trp301Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.850206533726992e-07,1.0,1459810.0,9.004985159784457e-07,1.0,nfe,1.3145562794180925,9.004985159784457e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-6.164296334331549,-6.0455169985611645,0.11877918406543736,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4434570072332018,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38562434:G:C,SCN5A,VCV003367171,3367171,NM_000335.5(SCN5A):c.3941C>G (p.Ser1314Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,LOF,6.854404228893233e-07,1.0,1458916.0,9.002407243696964e-07,1.0,nfe,1.313375139446535,9.002407243696964e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-6.164030287241851,-6.0456413446868185,0.11838879137644873,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4435813533588564,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38622461:T:C,SCN5A,VCV002734486,2734486,NM_000335.5(SCN5A):c.421A>G (p.Ile141Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.851135781289822e-07,1.0,1459612.0,9.00009000090001e-07,1.0,nfe,1.3136634788123889,9.00009000090001e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-6.164237425199845,-6.045753147594141,0.1184841262490603,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4436931562661788,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-7:150974870:C:A,KCNH2,VCV003720794,3720794,NM_000238.4(KCNH2):c.148G>T (p.Glu50Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.851408032864834e-07,1.0,1459554.0,8.998972317361358e-07,1.0,nfe,1.3134481466749075,8.998972317361358e-07,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,-6.164220167476267,-6.045807084158768,0.11841293204597676,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4437470928308056,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-11:2572011:A:C,KCNQ1,VCV000573008,573008,NM_000218.3(KCNQ1):c.684-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.850675819169561e-07,1.0,1459710.0,8.997595842390913e-07,1.0,nfe,1.3133876052546227,8.997595842390913e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,-6.164266583243557,-6.045873518545591,0.11839291343252398,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4438135272176287,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-4:113345930:C:T,ANK2,VCV003338732,3338732,NM_001148.6(ANK2):c.4279C>T (p.Arg1427Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.843043840644669e-07,1.0,1461338.0,8.996155043334479e-07,1.0,nfe,1.3146418620735227,8.996155043334479e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-6.164750677643749,-6.045943068367087,0.11880745738149259,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4438830770391253,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
-11:2572021:G:T,KCNQ1,VCV000519257,519257,NM_000218.3(KCNQ1):c.692G>T (p.Arg231Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.8483018950621e-07,1.0,1460216.0,8.9957989618848e-07,1.0,nfe,1.3135804997974945,8.9957989618848e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,-6.164417102818398,-6.045960258741038,0.11845669268857806,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4439002674130756,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-3:38606682:C:A,SCN5A,VCV003338339,3338339,NM_000335.5(SCN5A):c.1127G>T (p.Arg376Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.845236057965459e-07,1.0,1460870.0,8.995620931730434e-07,1.0,nfe,1.314142816131888,8.995620931730434e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-6.164611570626542,-6.045968853672857,0.11864256529042963,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4439088623448948,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:237445485:A:T,RYR2,VCV003720290,3720290,NM_001035.3(RYR2):c.1255A>T (p.Ile419Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842641150001642e-07,1.0,1461424.0,8.995378174693842e-07,1.0,nfe,1.3146056955850631,8.995378174693842e-07,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,-6.1647762351988655,-6.04598057376031,0.11879550954773074,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,-1.443920582432347,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:237441382:G:A,RYR2,VCV000519533,519533,NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842332140486764e-07,1.0,1461490.0,8.995167795860064e-07,1.0,nfe,1.3146343183622424,8.995167795860064e-07,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,-6.16479584811653,-6.045990730913602,0.11880496529473009,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,-1.44393073958564,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:115768343:G:A,CASQ2,VCV001784131,1784131,NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842023158879988e-07,1.0,1461556.0,8.995151613280442e-07,1.0,nfe,1.3146913211909823,8.995151613280442e-07,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,-6.164815460148506,-6.045991512223247,0.11882379598926718,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.0459915122232473,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38557231:C:A,SCN5A,VCV001527872,1527872,NM_000335.5(SCN5A):c.4296G>T (p.Gly1432=),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,other_or_unresolved,6.842828442079563e-07,1.0,1461384.0,8.995119248295874e-07,1.0,nfe,1.314531875103312,8.995119248295874e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-6.164764348151015,-6.04599307483832,0.11877112145313894,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4439330835103572,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:115701358:C:T,CASQ2,VCV002574853,2574853,NM_001232.4(CASQ2):c.1083G>A (p.Trp361Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.841751652625111e-07,1.0,1461614.0,8.994730886646602e-07,1.0,nfe,1.3146819990718934,8.994730886646602e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-6.164832694233389,-6.046011825780659,0.11882071651413235,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.046011825780659,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-4:113317711:C:T,ANK2,VCV002631072,2631072,NM_001148.6(ANK2):c.2698C>T (p.Arg900Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842659878748067e-07,1.0,1461420.0,8.994682343798347e-07,1.0,nfe,1.3145004074701925,8.994682343798347e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-6.164775046508722,-6.046014169591529,0.11876072506545396,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4439541782635663,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
-3:38585767:C:T,SCN5A,VCV004747274,4747274,NM_000335.5(SCN5A):c.2711G>A (p.Trp904Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.841536335399477e-07,1.0,1461660.0,8.994035155884617e-07,1.0,nfe,1.3146216827251025,8.994035155884617e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-6.164846362159262,-6.046045419194488,0.11880079104354802,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4439854278665258,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:237784136:G:A,RYR2,VCV001009997,1009997,NM_001035.3(RYR2):c.12424G>A (p.Ala4142Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.841424001357339e-07,1.0,1461684.0,8.993986620545503e-07,1.0,nfe,1.3146361740478818,8.993986620545503e-07,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,-6.164853493080266,-6.046047762824068,0.11880557832715535,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,-1.4439877714961054,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-4:113353464:T:C,ANK2,VCV004689790,4689790,NM_001148.6(ANK2):c.4846T>C (p.Cys1616Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840993421700726e-07,1.0,1461776.0,8.993210126354602e-07,1.0,nfe,1.314605412683571,8.993210126354602e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-6.164880827192824,-6.046085259177423,0.11879541608809442,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4440252678494607,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
-11:2585278:C:T,KCNQ1,VCV001791538,1791538,NM_000218.3(KCNQ1):c.1099C>T (p.Gln367Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.841676758139885e-07,1.0,1461630.0,8.993096898820465e-07,1.0,nfe,1.3144575624016888,8.993096898820465e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,-6.164837448343351,-6.046090727125146,0.1187465693603854,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440307357971842,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-4:113341707:C:T,ANK2,VCV003376712,3376712,NM_001148.6(ANK2):c.3913C>T (p.Arg1305Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840834308152222e-07,1.0,1461810.0,8.992999848917603e-07,1.0,nfe,1.3146052510215225,8.992999848917603e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-6.1648909284947075,-6.0460954138826875,0.11879536268124002,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4440354225547252,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
-11:2777974:A:G,KCNQ1,VCV001415094,1415094,NM_000218.3(KCNQ1):c.1733-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842163601605445e-07,1.0,1461526.0,8.992951324751659e-07,1.0,nfe,1.3143427583657852,8.992951324751659e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,-6.164806545698307,-6.046097757242491,0.11870863665098107,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440377659145291,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-4:113330289:C:T,ANK2,VCV000809661,809661,NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840693919991244e-07,1.0,1461840.0,8.992935150146045e-07,1.0,nfe,1.3146227720607964,8.992935150146045e-07,popmax,0.0,False,False,False,False,False,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.61; detectability=0.81,-6.164899841213027,-6.046098538359616,0.11880115091307626,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.444038547031654,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
-17:70176216:G:T,KCNJ2,VCV000638351,638351,NM_000891.3(KCNJ2):c.1177G>T (p.Gly393Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840750074564176e-07,1.0,1461828.0,8.992886626678298e-07,1.0,nfe,1.314604887272155,8.992886626678298e-07,popmax,0.0,False,False,False,False,True,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,-6.1648962761476485,-6.046100881702562,0.11879524251256973,anchored_exact,1.0,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-1.444040890374599,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
-15:73329725:C:T,HCN4,VCV000970883,970883,NM_005477.3(HCN4):c.1438G>A (p.Gly480Ser),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840675202005138e-07,1.0,1461844.0,8.992870452305412e-07,1.0,nfe,1.314616911427151,8.992870452305412e-07,popmax,0.0,False,False,False,False,False,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.50; detectability=0.81,-6.16490102956165,-6.046101662814067,0.1187992148089861,anchored_exact,1.0,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,-1.4440416714861042,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
-11:2572904:T:C,KCNQ1,VCV002735505,2735505,NM_000218.3(KCNQ1):c.839T>C (p.Val280Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842322776997754e-07,1.0,1461492.0,8.992854277990709e-07,1.0,nfe,1.3142979991009085,8.992854277990709e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,-6.164796442433541,-6.046102443924167,0.11869384672451685,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440424525962046,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-15:73329721:T:C,HCN4,VCV001504964,1504964,NM_005477.3(HCN4):c.1442A>G (p.Tyr481Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840656484121468e-07,1.0,1461848.0,8.992838103734187e-07,1.0,nfe,1.314615779706313,8.992838103734187e-07,popmax,0.0,False,False,False,False,True,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,-6.164902217907022,-6.046103225032862,0.11879884093556156,anchored_exact,1.0,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,-1.4440432337049,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
-7:150950951:C:T,KCNH2,VCV001405357,1405357,NM_000238.4(KCNH2):c.2115G>A (p.Trp705Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840506744739651e-07,1.0,1461880.0,8.992741059416839e-07,1.0,nfe,1.3146303700421835,8.992741059416839e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,-6.164911724552935,-6.0461079116555325,0.1188036609501185,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440479203275705,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-17:70175958:A:G,KCNJ2,VCV000519476,519476,NM_000891.3(KCNJ2):c.919A>G (p.Met307Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840478669335365e-07,1.0,1461886.0,8.992741059416839e-07,1.0,nfe,1.3146357656770435,8.992741059416839e-07,popmax,0.0,False,False,False,False,False,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.50; detectability=0.81,-6.164913507025877,-6.0461079116555325,0.11880544342045442,anchored_exact,1.0,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-1.4440479203275705,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
-7:150951556:T:C,KCNH2,VCV002049671,2049671,NM_000238.4(KCNH2):c.1837A>G (p.Thr613Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840488027777854e-07,1.0,1461884.0,8.992708711776492e-07,1.0,nfe,1.314629238289217,8.992708711776492e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,-6.164912912869042,-6.046109473851851,0.11880328706990778,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440494825238885,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150958158:G:A,KCNH2,VCV001076382,1076382,NM_000238.4(KCNH2):c.817C>T (p.Arg273Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,8.45374281009174e-07,,,8.45374281009174e-07,,,1.1829066007303187e-06,8.45374281009174e-07,global,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,-6.072950968933901,-6.072950968933901,-5.927049544796213,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4708909776059382,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-11:2571404:G:T,KCNQ1,VCV004614411,4614411,NM_000218.3(KCNQ1):c.683+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1457628.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-11:2445143:G:A,KCNQ1,VCV004531894,4531894,NM_000218.3(KCNQ1):c.45G>A (p.Trp15Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,978626.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-11:2571378:C:T,KCNQ1,VCV004081467,4081467,NM_000218.3(KCNQ1):c.658C>T (p.Gln220Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1460484.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-11:2572057:G:T,KCNQ1,VCV002904944,2904944,NM_000218.3(KCNQ1):c.728G>T (p.Arg243Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1460642.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-11:2445447:C:A,KCNQ1,VCV001489978,1489978,NM_000218.3(KCNQ1):c.349C>A (p.Pro117Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1445140.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-11:2775960:C:T,KCNQ1,VCV000965523,965523,NM_000218.3(KCNQ1):c.1591C>T (p.Gln531Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1404394.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-11:2445251:C:A,KCNQ1,VCV000933168,933168,NM_000218.3(KCNQ1):c.153C>A (p.Tyr51Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1046344.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-11:2570756:T:C,KCNQ1,VCV000869440,869440,NM_000218.3(KCNQ1):c.604+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1458098.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-11:2445149:G:A,KCNQ1,VCV000663623,663623,NM_000218.3(KCNQ1):c.51G>A (p.Trp17Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,983778.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-11:2776056:T:C,KCNQ1,VCV000637975,637975,NM_000218.3(KCNQ1):c.1685+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1402144.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-11:2445100:T:A,KCNQ1,VCV000488859,488859,NM_000218.3(KCNQ1):c.2T>A (p.Met1Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,936200.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-11:2445222:G:T,KCNQ1,VCV000488698,488698,NM_000218.3(KCNQ1):c.124G>T (p.Glu42Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,987170.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-11:2572089:G:A,KCNQ1,VCV000444879,444879,NM_000218.2(KCNQ1):c.[1249G>A;760G>A],Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,other_or_unresolved,0.0,0.0,1460076.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-11:2445103:C:G,KCNQ1,VCV000431053,431053,NM_000218.3(KCNQ1):c.5C>G (p.Ala2Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,940006.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-11:2445213:G:T,KCNQ1,VCV000375455,375455,NM_000218.3(KCNQ1):c.115G>T (p.Glu39Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,992758.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150958504:T:G,KCNH2,VCV004730168,4730168,NM_000238.4(KCNH2):c.473-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1323936.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150974834:G:A,KCNH2,VCV004725502,4725502,NM_000238.4(KCNH2):c.184C>T (p.Arg62Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1456028.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150947786:C:A,KCNH2,VCV003895444,3895444,NM_000238.4(KCNH2):c.2785G>T (p.Glu929Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1381744.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150958442:G:T,KCNH2,VCV003730888,3730888,NM_000238.4(KCNH2):c.533C>A (p.Ser178Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1311954.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150950422:T:C,KCNH2,VCV003720789,3720789,NM_000238.4(KCNH2):c.2146-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1458974.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150948486:G:A,KCNH2,VCV003720786,3720786,NM_000238.4(KCNH2):c.2650C>T (p.Gln884Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1373460.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150948443:C:A,KCNH2,VCV003544414,3544414,NM_000238.4(KCNH2):c.2692+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1400560.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150958110:C:A,KCNH2,VCV003338695,3338695,NM_000238.4(KCNH2):c.865G>T (p.Glu289Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1144896.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150945490:C:A,KCNH2,VCV003254535,3254535,NM_000238.4(KCNH2):c.3355G>T (p.Glu1119Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1407476.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150958287:C:A,KCNH2,VCV002831712,2831712,NM_000238.4(KCNH2):c.688G>T (p.Glu230Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1311050.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150958446:C:A,KCNH2,VCV002136630,2136630,NM_000238.4(KCNH2):c.529G>T (p.Glu177Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1314472.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150947458:G:A,KCNH2,VCV001968021,1968021,NM_000238.4(KCNH2):c.3022C>T (p.Gln1008Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1416682.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150958335:C:A,KCNH2,VCV001810619,1810619,NM_000238.4(KCNH2):c.640G>T (p.Glu214Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1337032.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150974768:G:A,KCNH2,VCV001792370,1792370,NM_000238.4(KCNH2):c.250C>T (p.Gln84Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1453842.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150947344:G:A,KCNH2,VCV001728012,1728012,NM_000238.4(KCNH2):c.3136C>T (p.Gln1046Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1391714.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150958504:T:C,KCNH2,VCV001466419,1466419,NM_000238.4(KCNH2):c.473-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1323936.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150974786:C:T,KCNH2,VCV001197726,1197726,NM_000238.4(KCNH2):c.232G>A (p.Ala78Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1452442.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150974942:C:A,KCNH2,VCV001171507,1171507,NM_000238.4(KCNH2):c.77-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1440802.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150977837:C:T,KCNH2,VCV001066606,1066606,NM_000238.4(KCNH2):c.76+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1395200.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150950166:A:T,KCNH2,VCV000560686,560686,NM_000238.4(KCNH2):c.2398+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,550050.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-7:150947327:C:A,KCNH2,VCV000373026,373026,NM_000238.4(KCNH2):c.3152+1G>T,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1388730.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-3:38550937:G:T,SCN5A,VCV004756584,4756584,NM_000335.5(SCN5A):c.5432C>A (p.Ser1811Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461814.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38613754:G:C,SCN5A,VCV003950971,3950971,NM_000335.5(SCN5A):c.692C>G (p.Ser231Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1450430.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38597755:C:A,SCN5A,VCV003717482,3717482,NM_000335.5(SCN5A):c.2236G>T (p.Glu746Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1456158.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38581200:G:A,SCN5A,VCV003662749,3662749,NM_000335.5(SCN5A):c.2959C>T (p.Gln987Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1458838.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38560152:G:A,SCN5A,VCV003662441,3662441,NM_000335.5(SCN5A):c.4237C>T (p.Gln1413Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1459868.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38606687:C:T,SCN5A,VCV002910169,2910169,NM_000335.5(SCN5A):c.1122G>A (p.Trp374Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461218.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38579496:C:T,SCN5A,VCV001965471,1965471,NM_001099404.2(SCN5A):c.3229-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1455140.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38613808:C:T,SCN5A,VCV001684121,1684121,NM_000335.5(SCN5A):c.638G>A (p.Gly213Asp),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1457634.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38556559:C:T,SCN5A,VCV001375303,1375303,NM_000335.5(SCN5A):c.4316G>A (p.Trp1439Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461152.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38566558:C:A,SCN5A,VCV000979202,979202,NM_000335.5(SCN5A):c.3688G>T (p.Glu1230Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461610.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-3:38613824:C:A,SCN5A,VCV000858096,858096,NM_000335.5(SCN5A):c.622G>T (p.Glu208Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1455108.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-21:34449585:C:T,KCNE1,VCV000547163,547163,NM_000219.6(KCNE1):c.50G>A (p.Trp17Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,LOF,0.0,0.0,908958.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.4166666666666667,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.42; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
-1:237828429:T:C,RYR2,VCV004746934,4746934,NM_001035.3(RYR2):c.14639T>C (p.Val4880Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1413372.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:237795313:C:A,RYR2,VCV002828493,2828493,NM_001035.3(RYR2):c.13938C>A (p.Asp4646Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1276004.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:237491911:G:T,RYR2,VCV002737123,2737123,NM_001035.3(RYR2):c.1814G>T (p.Gly605Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1129636.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:237772037:G:T,RYR2,VCV002203008,2203008,NM_001035.3(RYR2):c.11583G>T (p.Gln3861His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1394334.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:237778753:C:A,RYR2,VCV001804987,1804987,NM_001035.3(RYR2):c.11863C>A (p.Gln3955Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1448574.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:237042549:G:T,RYR2,VCV001678118,1678118,NM_001035.3(RYR2):c.28G>T (p.Glu10Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1108862.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:237772077:G:T,RYR2,VCV001480581,1480581,NM_001035.3(RYR2):c.11623G>T (p.Val3875Leu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1386722.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:237828428:G:A,RYR2,VCV001439521,1439521,NM_001035.3(RYR2):c.14638G>A (p.Val4880Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1413512.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:237772075:C:T,RYR2,VCV001328938,1328938,NM_001035.3(RYR2):c.11621C>T (p.Thr3874Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,,,0.0,,,1.0,0.0,global,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:237772033:C:T,RYR2,VCV001035886,1035886,NM_001035.3(RYR2):c.11579C>T (p.Thr3860Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,,,0.0,,,1.0,0.0,global,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:237784046:G:A,RYR2,VCV001021015,1021015,NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1461680.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:237783718:G:A,RYR2,VCV000869430,869430,NM_001035.3(RYR2):c.12006G>A (p.Met4002Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1459208.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:237772044:A:G,RYR2,VCV000656670,656670,NM_001035.3(RYR2):c.11590A>G (p.Asn3864Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1400372.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:237772078:T:C,RYR2,VCV000581079,581079,NM_001035.3(RYR2):c.11624T>C (p.Val3875Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1384914.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:237369568:A:G,RYR2,VCV000572162,572162,NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1412948.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:237042565:G:C,RYR2,VCV000463600,463600,NM_001035.3(RYR2):c.44G>C (p.Arg15Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1109590.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:237772077:G:A,RYR2,VCV000404183,404183,NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1386722.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:115705191:C:T,CASQ2,VCV002754358,2754358,NM_001232.4(CASQ2):c.939+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1449556.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:115726993:T:A,CASQ2,VCV002505552,2505552,NM_001232.4(CASQ2):c.736A>T (p.Arg246Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1209268.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-1:115702920:C:T,CASQ2,VCV001457736,1457736,NM_001232.4(CASQ2):c.1014+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1459946.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-6:123512333:C:A,TRDN,VCV003894738,3894738,NM_006073.4(TRDN):c.580G>T (p.Glu194Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1350466.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-6:123438943:C:T,TRDN,VCV003717909,3717909,NM_006073.4(TRDN):c.991+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1406010.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-6:123547340:C:A,TRDN,VCV002762883,2762883,NM_006073.4(TRDN):c.424G>T (p.Glu142Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1302576.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-6:123278327:C:A,TRDN,VCV002434224,2434224,NM_006073.4(TRDN):c.1558G>T (p.Glu520Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1144364.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-6:123548540:C:T,TRDN,VCV001799347,1799347,NM_006073.4(TRDN):c.305G>A (p.Trp102Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1423754.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-6:123548453:C:T,TRDN,VCV001517713,1517713,NM_006073.4(TRDN):c.391+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1401032.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.39; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-2:47160803:C:G,CALM2,VCV001467722,1467722,NM_001743.6(CALM2):c.423G>C (p.Glu141Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1220958.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.75,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.75; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
-4:113264996:G:A,ANK2,VCV003721367,3721367,NM_001148.6(ANK2):c.1485+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1405178.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
-4:113264927:C:T,ANK2,VCV002446019,2446019,NM_001148.6(ANK2):c.1417C>T (p.Arg473Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1415518.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
-12:2595878:C:T,CACNA1C,VCV003899523,3899523,NM_000719.7(CACNA1C):c.2668C>T (p.Arg890Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1461100.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
-12:2566430:G:A,CACNA1C,VCV003601972,3601972,NM_000719.7(CACNA1C):c.1517G>A (p.Trp506Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1440630.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
-12:2566465:C:A,CACNA1C,VCV003233417,3233417,NM_000719.7(CACNA1C):c.1552C>A (p.Arg518Ser),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,0.0,0.0,1443586.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
-12:2581622:C:T,CACNA1C,VCV001707563,1707563,NM_000719.7(CACNA1C):c.1928C>T (p.Ser643Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1426284.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
-12:2666684:A:G,CACNA1C,VCV001218634,1218634,NM_000719.7(CACNA1C):c.4527-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1427552.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
-11:2571331:T:TC,KCNQ1,VCV004811016,4811016,NM_000218.3(KCNQ1):c.612dup (p.Val205fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2585246:A:AGCAGAAGCAGAG,KCNQ1,VCV004750132,4750132,NM_000218.3(KCNQ1):c.1077_1088dup (p.Lys362_His363insGlnArgGlnLys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2445473:C:G,KCNQ1,VCV004732891,4732891,NM_000218.3(KCNQ1):c.375C>G (p.Tyr125Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2778034:C:CA,KCNQ1,VCV004719475,4719475,NM_000218.3(KCNQ1):c.1793dup (p.Val599fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2527967:GT:G,KCNQ1,VCV004714005,4714005,NM_000218.3(KCNQ1):c.427del (p.Ser143fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583471:C:A,KCNQ1,VCV004709530,4709530,NM_000218.3(KCNQ1):c.958C>A (p.Pro320Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2777975:G:A,KCNQ1,VCV004688928,4688928,NM_000218.3(KCNQ1):c.1733-1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572936:TC:T,KCNQ1,VCV004278376,4278376,NM_000218.3(KCNQ1):c.872del (p.Glu290_Ser291insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2768837:ACTGCAGG:A,KCNQ1,VCV004090692,4090692,NM_000218.3(KCNQ1):c.1515-2_1519del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2778007:C:CA,KCNQ1,VCV004084700,4084700,NM_000218.3(KCNQ1):c.1764_1765insA (p.Gly589fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2777984:AAGGATCGCGGC:A,KCNQ1,VCV004084699,4084699,NM_000218.3(KCNQ1):c.1744_1754del (p.Asp582fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2775999:CAGTAC:GTGAG,KCNQ1,VCV004076475,4076475,NM_000218.3(KCNQ1):c.1630_1635delinsGTGAG (p.Gln544fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572977:G:A,KCNQ1,VCV004070996,4070996,NM_000218.3(KCNQ1):c.912G>A (p.Trp304Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2778014:C:G,KCNQ1,VCV003901502,3901502,NM_000218.3(KCNQ1):c.1771C>G (p.Arg591Gly),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2585274:C:G,KCNQ1,VCV003898708,3898708,NM_000218.3(KCNQ1):c.1095C>G (p.Asn365Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2585218:C:T,KCNQ1,VCV003895224,3895224,NM_000218.3(KCNQ1):c.1039C>T (p.Leu347Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2768895:C:G,KCNQ1,VCV003895223,3895223,NM_000218.3(KCNQ1):c.1566C>G (p.Tyr522Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2775970:AG:A,KCNQ1,VCV003894930,3894930,NM_000218.3(KCNQ1):c.1602del (p.Lys534fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2775959:G:C,KCNQ1,VCV003894017,3894017,NM_000218.3(KCNQ1):c.1591-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2662020:TTCGCC:T,KCNQ1,VCV003893245,3893245,NM_000218.3(KCNQ1):c.1454_1458del (p.Ser484_Phe485insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2662017:AGC:A,KCNQ1,VCV003893242,3893242,NM_000218.3(KCNQ1):c.1451_1452del (p.Ser484fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2571344:C:TT,KCNQ1,VCV003862988,3862988,NM_000218.3(KCNQ1):c.624delinsTT (p.Ser209fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2571394:C:A,KCNQ1,VCV003774956,3774956,NM_000218.3(KCNQ1):c.674C>A (p.Ser225Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583446:CACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGGTCGGGAAG:C,KCNQ1,VCV003769591,3769591,NM_000218.3(KCNQ1):c.941_985del (p.Gly314_Ile328del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2768920:G:C,KCNQ1,VCV003726879,3726879,NM_000218.3(KCNQ1):c.1590+1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2527959:A:C,KCNQ1,VCV003719869,3719869,NM_000218.3(KCNQ1):c.418A>C (p.Ser140Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2570713:G:A,KCNQ1,VCV003693769,3693769,NM_000218.3(KCNQ1):c.563G>A (p.Trp188Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2587651:ACT:A,KCNQ1,VCV003669101,3669101,NM_000218.3(KCNQ1):c.1213_1214del (p.Leu405fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572945:GTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTG:CAC,KCNQ1,VCV003660922,3660922,NM_000218.3(KCNQ1):c.880_921+630delinsCAC,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2768890:C:T,KCNQ1,VCV003659274,3659274,NM_000218.3(KCNQ1):c.1561C>T (p.Gln521Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2528014:G:A,KCNQ1,VCV003659247,3659247,NM_000218.3(KCNQ1):c.473G>A (p.Trp158Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2445162:G:GGC,KCNQ1,VCV003648787,3648787,NM_000218.3(KCNQ1):c.67_68dup (p.Arg24fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572032:A:C,KCNQ1,VCV003641656,3641656,NM_000218.3(KCNQ1):c.703A>C (p.Ile235Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572026:C:A,KCNQ1,VCV003603667,3603667,NM_000218.3(KCNQ1):c.697C>A (p.Leu233Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2570626:A:G,KCNQ1,VCV003601179,3601179,NM_000218.3(KCNQ1):c.478-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2776985:G:T,KCNQ1,VCV003392793,3392793,NM_000218.3(KCNQ1):c.1686-1G>T,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2661995:GC:G,KCNQ1,VCV003383201,3383201,NM_000218.3(KCNQ1):c.1432del (p.His478fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2588714:TAAAG:T,KCNQ1,VCV003383071,3383071,NM_000218.3(KCNQ1):c.1257_1260del (p.Lys421fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572073:G:A,KCNQ1,VCV003382790,3382790,NM_000218.3(KCNQ1):c.744G>A (p.Trp248Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583540:C:G,KCNQ1,VCV003376696,3376696,NM_000218.3(KCNQ1):c.1027C>G (p.Pro343Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2585209:CA:C,KCNQ1,VCV003376665,3376665,NM_000218.3(KCNQ1):c.1033-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2445419:G:C,KCNQ1,VCV003376650,3376650,NM_000218.3(KCNQ1):c.321G>C (p.Gln107His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2585213:G:T,KCNQ1,VCV003338779,3338779,NM_000218.3(KCNQ1):c.1034G>T (p.Gly345Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2570658:G:A,KCNQ1,VCV003338330,3338330,NM_000218.3(KCNQ1):c.508G>A (p.Glu170Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2445320:AG:A,KCNQ1,VCV003337204,3337204,NM_000218.3(KCNQ1):c.223del (p.Val75fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2445305:GC:G,KCNQ1,VCV003335922,3335922,NM_000218.3(KCNQ1):c.210del (p.Ala71fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2778014:C:A,KCNQ1,VCV003235934,3235934,NM_000218.3(KCNQ1):c.1771C>A (p.Arg591Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2847776:CTGGACCAGAGGCTGGCACTCATCACCGACATGCTTCACCAGCTGCTCTCCTTGCACGGTGGCAGCACCCCCGGCAGCGGCGGCCCCCCCAGAGAGGGCGGGGCCCACATCACCCAGCCCTGCGGCAGTGGCGGCTCCGTCGACCCTGAGCTCTTCCTGCCCAGCAACACCCTGCCCACCTACGAGCAGCTGACCGTGCCCAGGAGGGGCCCCGATGAGGGGTCCTGAGGAGGGGATGGGGCTGGGGGATGGGCCTGAGTGAGAGGGGAGGCCAAGAGTGGCCCCACCTGGCCCTCTCTGAAGGAGGCCACCTCCTAAAAGGCCCAGAGAGAAGAGCCCCACTCTCAGAGGCCCCAATACCCCA:C,KCNQ1,VCV003235891,3235891,NM_000218.3(KCNQ1):c.1812_*143del (p.Gln604_Ter677delinsXaa),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2777033:G:T,KCNQ1,VCV003075923,3075923,NM_000218.3(KCNQ1):c.1732+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572976:G:T,KCNQ1,VCV002982293,2982293,NM_000218.3(KCNQ1):c.911G>T (p.Trp304Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2587564:CCTCAGACCGCATGGAGGTGCTATGCTG:C,KCNQ1,VCV002971269,2971269,NM_000218.3(KCNQ1):c.1129-4_1151del,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572980:G:C,KCNQ1,VCV002837284,2837284,NM_000218.3(KCNQ1):c.915G>C (p.Trp305Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572047:CACGTCG:C,KCNQ1,VCV002836375,2836375,NM_000218.3(KCNQ1):c.721_726del (p.Val241_Asp242del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2570735:G:GA,KCNQ1,VCV002828480,2828480,NM_000218.3(KCNQ1):c.587dup (p.Pro197fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2571383:GT:G,KCNQ1,VCV002814371,2814371,NM_000218.3(KCNQ1):c.666del (p.Phe222fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2585274:CC:AT,KCNQ1,VCV002811762,2811762,NM_000218.3(KCNQ1):c.1095_1096delinsAT (p.Asn365_Arg366delinsLysTrp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2585215:AT:A,KCNQ1,VCV002807267,2807267,NM_000218.3(KCNQ1):c.1038del (p.Gly348fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2777020:AT:A,KCNQ1,VCV002773484,2773484,NM_000218.3(KCNQ1):c.1721del (p.Ile574fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2588712:G:A,KCNQ1,VCV002773474,2773474,NM_000218.3(KCNQ1):c.1252-1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2776003:A:T,KCNQ1,VCV002770494,2770494,NM_000218.3(KCNQ1):c.1634A>T (p.Tyr545Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2445486:T:G,KCNQ1,VCV002748943,2748943,NM_000218.3(KCNQ1):c.386+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2570677:G:C,KCNQ1,VCV002747611,2747611,NM_000218.3(KCNQ1):c.527G>C (p.Trp176Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2662041:GA:G,KCNQ1,VCV002725492,2725492,NM_000218.3(KCNQ1):c.1476del (p.Glu494fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2528019:G:C,KCNQ1,VCV002724418,2724418,NM_000218.3(KCNQ1):c.477+1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572854:AAC:A,KCNQ1,VCV002723186,2723186,NM_000218.3(KCNQ1):c.790_791del (p.Thr264fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572978:T:A,KCNQ1,VCV002719407,2719407,NM_000218.3(KCNQ1):c.913T>A (p.Trp305Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2768884:CGCAT:C,KCNQ1,VCV002708573,2708573,NM_000218.3(KCNQ1):c.1559_1562del (p.Met520fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2585300:TC:T,KCNQ1,VCV002692770,2692770,NM_000218.3(KCNQ1):c.1122del (p.Ile375fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2778039:T:C,KCNQ1,VCV002587406,2587406,NM_000218.3(KCNQ1):c.1794+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572976:G:A,KCNQ1,VCV002587403,2587403,NM_000218.3(KCNQ1):c.911G>A (p.Trp304Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2445453:G:GC,KCNQ1,VCV002577445,2577445,NM_000218.3(KCNQ1):c.355_356insC (p.Gly119fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2587660:T:TG,KCNQ1,VCV002575074,2575074,NM_000218.3(KCNQ1):c.1219_1220insG (p.Ser407fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2585246:AGCAGAAGCAGAG:A,KCNQ1,VCV002575071,2575071,NM_000218.3(KCNQ1):c.1077_1088del (p.Gln359_Lys362del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2527927:G:C,KCNQ1,VCV002575070,2575070,NM_000218.3(KCNQ1):c.387-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2662053:CT:C,KCNQ1,VCV002575068,2575068,NM_000218.3(KCNQ1):c.1487del (p.Leu496fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2527938:GT:G,KCNQ1,VCV002575067,2575067,NM_000218.3(KCNQ1):c.398del (p.Val133fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2778038:G:A,KCNQ1,VCV002575066,2575066,NM_000218.3(KCNQ1):c.1794+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572850:T:A,KCNQ1,VCV002575065,2575065,NM_000218.3(KCNQ1):c.785T>A (p.Leu262Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583533:T:G,KCNQ1,VCV002575064,2575064,NM_000218.3(KCNQ1):c.1020T>G (p.Phe340Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572975:T:G,KCNQ1,VCV002575063,2575063,NM_000218.3(KCNQ1):c.910T>G (p.Trp304Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572852:AT:A,KCNQ1,VCV002574107,2574107,NM_000218.3(KCNQ1):c.788del (p.Ile263fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2585297:C:A,KCNQ1,VCV002574106,2574106,NM_000218.3(KCNQ1):c.1118C>A (p.Ser373Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572882:C:A,KCNQ1,VCV002574013,2574013,NM_000218.3(KCNQ1):c.817C>A (p.Leu273Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2768908:A:G,KCNQ1,VCV002574002,2574002,NM_000218.3(KCNQ1):c.1579A>G (p.Lys527Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572040:GATGCTAC:G,KCNQ1,VCV002567545,2567545,NM_000218.3(KCNQ1):c.713_719del (p.Met238fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2778024:G:T,KCNQ1,VCV002502702,2502702,NM_000218.3(KCNQ1):c.1781G>T (p.Arg594Leu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2445344:GC:G,KCNQ1,VCV002502315,2502315,NM_000218.3(KCNQ1):c.248del (p.Pro83fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572862:T:A,KCNQ1,VCV002498480,2498480,NM_000218.3(KCNQ1):c.797T>A (p.Leu266Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583443:CA:C,KCNQ1,VCV002453279,2453279,NM_000218.3(KCNQ1):c.931del (p.Thr311fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2570685:G:C,KCNQ1,VCV002446426,2446426,NM_000218.3(KCNQ1):c.535G>C (p.Gly179Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583546:G:T,KCNQ1,VCV002136962,2136962,NM_000218.3(KCNQ1):c.1032+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572104:C:G,KCNQ1,VCV002136957,2136957,NM_000218.3(KCNQ1):c.775C>G (p.Arg259Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583460:G:C,KCNQ1,VCV002130527,2130527,NM_000218.3(KCNQ1):c.947G>C (p.Gly316Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2768911:A:AAT,KCNQ1,VCV002129901,2129901,NM_000218.3(KCNQ1):c.1583_1584insTA (p.Lys528fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583470:GC:TT,KCNQ1,VCV002129108,2129108,NM_000218.3(KCNQ1):c.957_958delinsTT (p.Pro320Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2570701:ACGTGGGCCTCTGGGGGCGGCTG:A,KCNQ1,VCV002102490,2102490,NM_000218.3(KCNQ1):c.554_575del (p.Val185fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2445430:A:C,KCNQ1,VCV002035007,2035007,NM_000218.3(KCNQ1):c.332A>C (p.Tyr111Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2588739:C:CA,KCNQ1,VCV002028871,2028871,NM_000218.3(KCNQ1):c.1281dup (p.Asp428fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2776027:TG:T,KCNQ1,VCV002023188,2023188,NM_000218.3(KCNQ1):c.1660del (p.Val554fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2587681:A:T,KCNQ1,VCV002017757,2017757,NM_000218.3(KCNQ1):c.1240A>T (p.Lys414Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583546:G:C,KCNQ1,VCV002017498,2017498,NM_000218.3(KCNQ1):c.1032+1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2571346:C:CA,KCNQ1,VCV002004187,2004187,NM_000218.3(KCNQ1):c.626_627insA (p.Met210fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2768888:T:A,KCNQ1,VCV002000331,2000331,NM_000218.3(KCNQ1):c.1559T>A (p.Met520Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2587665:CA:C,KCNQ1,VCV001879152,1879152,NM_000218.3(KCNQ1):c.1225del (p.Ser409fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2571364:TG:T,KCNQ1,VCV001802109,1802109,NM_000218.3(KCNQ1):c.647del (p.Gly216fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2445203:C:CT,KCNQ1,VCV001786030,1786030,NM_000218.3(KCNQ1):c.107dup (p.Ser37fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2776986:G:C,KCNQ1,VCV001778018,1778018,NM_000218.3(KCNQ1):c.1686G>C (p.Arg562Ser),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2585210:A:AGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCT,KCNQ1,VCV001771701,1771701,NM_000218.3(KCNQ1):c.1033-1_1117dup,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2588779:G:GTCCCCCATATCACGTGCGA,KCNQ1,VCV001769838,1769838,NM_000218.3(KCNQ1):c.1319_1337dup (p.Glu449fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583481:G:A,KCNQ1,VCV001723453,1723453,NM_000218.3(KCNQ1):c.968G>A (p.Trp323Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572886:T:A,KCNQ1,VCV001711271,1711271,NM_000218.3(KCNQ1):c.821T>A (p.Ile274Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2570663:C:CGTGGTCCGCCT,KCNQ1,VCV001709048,1709048,NM_000218.3(KCNQ1):c.514_524dup (p.Gly179fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2662026:G:T,KCNQ1,VCV001708065,1708065,NM_000218.3(KCNQ1):c.1459G>T (p.Glu487Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2445485:G:T,KCNQ1,VCV001522663,1522663,NM_000218.3(KCNQ1):c.386+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2661959:A:G,KCNQ1,VCV001500718,1500718,NM_000218.3(KCNQ1):c.1394-2A>G,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2585309:T:A,KCNQ1,VCV001500707,1500707,NM_000218.3(KCNQ1):c.1128+2T>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2571324:G:A,KCNQ1,VCV001493047,1493047,NM_000218.3(KCNQ1):c.605-1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583531:T:C,KCNQ1,VCV001488375,1488375,NM_000218.3(KCNQ1):c.1018T>C (p.Phe340Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2445400:T:A,KCNQ1,VCV001457098,1457098,NM_000218.3(KCNQ1):c.302T>A (p.Leu101Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2587588:G:GC,KCNQ1,VCV001454915,1454915,NM_000218.3(KCNQ1):c.1148dup (p.Ala384fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572899:C:CT,KCNQ1,VCV001454509,1454509,NM_000218.3(KCNQ1):c.837dup (p.Val280fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2445457:GGAAATGCTTC:G,KCNQ1,VCV001454382,1454382,NM_000218.3(KCNQ1):c.361_370del (p.Lys121fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572099:T:TCCACC,KCNQ1,VCV001452627,1452627,NM_000218.3(KCNQ1):c.771_775dup (p.Arg259fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572975:T:TGGTG,KCNQ1,VCV001451451,1451451,NM_000218.3(KCNQ1):c.913_916dup (p.Gly306fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583486:G:T,KCNQ1,VCV001449449,1449449,NM_000218.3(KCNQ1):c.973G>T (p.Gly325Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2587647:CCACACTCTGCTGT:C,KCNQ1,VCV001445000,1445000,NM_000218.3(KCNQ1):c.1210_1222del (p.Thr404fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583456:T:A,KCNQ1,VCV001439097,1439097,NM_000218.3(KCNQ1):c.943T>A (p.Tyr315Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2571394:C:G,KCNQ1,VCV001438413,1438413,NM_000218.3(KCNQ1):c.674C>G (p.Ser225Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572096:TCATC:T,KCNQ1,VCV001437397,1437397,NM_000218.3(KCNQ1):c.770_773del (p.Ile257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2588814:GC:G,KCNQ1,VCV001426804,1426804,NM_000218.3(KCNQ1):c.1354del (p.Arg452fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583446:C:CACCATCGG,KCNQ1,VCV001416082,1416082,NM_000218.3(KCNQ1):c.934_941dup (p.Tyr315fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572029:C:T,KCNQ1,VCV001414164,1414164,NM_000218.3(KCNQ1):c.700C>T (p.Gln234Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583472:C:T,KCNQ1,VCV001411474,1411474,NM_000218.3(KCNQ1):c.959C>T (p.Pro320Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572987:G:A,KCNQ1,VCV001384067,1384067,NM_000218.3(KCNQ1):c.921+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2528020:T:C,KCNQ1,VCV001350731,1350731,NM_000218.3(KCNQ1):c.477+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2570625:CAGG:C,KCNQ1,VCV001343361,1343361,NM_000218.2(KCNQ1):c.478_480del,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2588712:G:C,KCNQ1,VCV001342782,1342782,NM_000218.3(KCNQ1):c.1252-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2571323:A:G,KCNQ1,VCV001342708,1342708,NM_000218.3(KCNQ1):c.605-2A>G,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2768921:T:A,KCNQ1,VCV001331817,1331817,NM_000218.3(KCNQ1):c.1590+2T>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572976:G:C,KCNQ1,VCV001212402,1212402,NM_000218.3(KCNQ1):c.911G>C (p.Trp304Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2585276:G:T,KCNQ1,VCV001185948,1185948,NM_000218.3(KCNQ1):c.1097G>T (p.Arg366Leu),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2587690:G:GT,KCNQ1,VCV001179766,1179766,NM_000218.3(KCNQ1):c.1250dup (p.Val418fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2778034:CAA:C,KCNQ1,VCV001171410,1171410,NM_000218.3(KCNQ1):c.1792_1793del (p.Lys598fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2587622:TC:T,KCNQ1,VCV001076090,1076090,NM_000218.3(KCNQ1):c.1182del (p.Tyr395fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2445482:CG:C,KCNQ1,VCV001075209,1075209,NM_000218.3(KCNQ1):c.385del (p.Val129fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2445457:G:A,KCNQ1,VCV001074347,1074347,NM_000218.3(KCNQ1):c.359G>A (p.Trp120Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2445251:CGCGCCCATCGCGCCCG:C,KCNQ1,VCV001072801,1072801,NM_000218.3(KCNQ1):c.160_175del (p.Ile54fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2777030:C:G,KCNQ1,VCV001069232,1069232,NM_000218.3(KCNQ1):c.1730C>G (p.Ser577Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2588711:A:C,KCNQ1,VCV001067022,1067022,NM_000218.3(KCNQ1):c.1252-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2661960:G:C,KCNQ1,VCV001066272,1066272,NM_000218.3(KCNQ1):c.1394-1G>C,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583463:A:C,KCNQ1,VCV001056776,1056776,NM_000218.3(KCNQ1):c.950A>C (p.Asp317Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2585291:C:A,KCNQ1,VCV001038475,1038475,NM_000218.3(KCNQ1):c.1112C>A (p.Ala371Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2778003:C:G,KCNQ1,VCV001037124,1037124,NM_000218.3(KCNQ1):c.1760C>G (p.Thr587Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2768888:T:C,KCNQ1,VCV001018501,1018501,NM_000218.3(KCNQ1):c.1559T>C (p.Met520Thr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572081:T:A,KCNQ1,VCV001004846,1004846,NM_000218.3(KCNQ1):c.752T>A (p.Leu251Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2587654:CTG:C,KCNQ1,VCV000992394,992394,NM_000218.3(KCNQ1):c.1214_1215del (p.Leu405fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2776977:T:C,KCNQ1,VCV000983505,983505,NM_000218.3(KCNQ1):c.1686-9T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2588738:AC:A,KCNQ1,VCV000983047,983047,NM_000218.3(KCNQ1):c.1278del (p.Asp426fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2570701:AC:A,KCNQ1,VCV000983022,983022,NM_000218.3(KCNQ1):c.552del (p.Lys183_Tyr184insTer),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2699443:GCACTGAGGAGCCGCCGGGAGAGTGCCGCGCTGAGGAGCCCCCGGGGAGAGTGCCGCGCTGAGGAGCCCCCAGGAGAGTGCCGCGCTGAGGAGGCCCAGGGAGGACCGCGCGGAGGAGAACCATGCTGAGGAGCCCCCGGGGAGAACAGAACCGCGGCGAGAGGCCCCCGGAGAGAACCGCGCCGAAGAACCCCCGGGGACAACCGCGCCGAAGAACCCCCGGGGAGAACCGCGCCGAAAAGCCCCGGGTGCCCCGAGGAGAACGGCGCCGAGGAGTCCCCGGGGAGAACTGCGCCGAGGAGCCCCCAGAAGAGCGCCGCGCTGAGGAGCCCCGAGGAGAACCGCGCCGAGGGGCGCGCCGGGGAGAACCACGATGACTGACGCACCGAGGAGGACCGCGCTGAGGGGCGCACCGGGAGAATCGTGCTGAGGAGCCCCGGGGAGGACCACGCTGAGAGGCACCCCGGCAGAATCGCGCTGAGGGGCGCCCTGGCAGGATCTTGCTGAGGAGCTCCCTGGAGGTCCGTGCTGAGGCGACGCGGCGACCGTTCTGCCTGGAGACTGCGGCAGCGCTCCGACTGCCCCCGCCGCTGCCGACGTGGCGACCGCCCCCCACCTGCTGATTGGGCGGCAGCAGGGGAAGGCTTGCGGCGGGCTGCTGCACGGATTGGCTGGGTGCGGAAAGTGATGTGCCGTGTCCTGTCATTGGCCGAAAGAGTCTCGTTTTGATGCCACCCGGGCTCAGATTGGCCCAGCGGGTCCAGCGCCGCATGAGGCACTGGCTGGGTGTGAGGTGGCGCGAGCCGCCGCCCTCCCTGCCCCCACCCGTCGTCCCTGAGCACCACCGGGGGCCGGGGCCAGCGCCAGCCTCAGCGTTGGCATCGCCGGGGTGAGCTGGAGACACGGGCCAGTTCTCTGCGTGATGTGTTCACCACCCCGGGGTGACCGCGTGAGGACAGCGGCCGCACCCCGACACTGCTGTGGGCCCTCGGTGTGGAGGCCTGTGGGCGTCCAGGCCACGCCCGAGACCAGCCCCTCCGCCGGCGCCGCTGCAGCGACCCTCGAACCCGGGCAAGGTCTCCACCGCCGTGGCACCGGGTGCGGGAGGCGTTTTCCCCCCTCCCAGCGGGTCCATGCAGGGGATCGGGATGTTCTGAAGCCCCCACTGCTGTGCCTGGAACACCCGTGTCTGCCGCTCACCCCTGAGGACTTGGGACCTCAGGGGGTGAGTGGCAGGGGTGGCCGGGACATGCCAGGCCACCCACCTGGCAAAGGGCAGCGCCGAGGGCGCCCCGCGCCTGCCAGCGCCCGGCCGGGCCCGCCCTGCCCACCTCCCATCCCCCATCCGGGCGTGACACTTGACCGCGTCTGCCGGCCCCTCC:G,KCNQ1,VCV000977320,977320,NM_000218.3(KCNQ1):c.1514+37364_1514+38744del,Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583544:CGGTAGGTGCCCCGTGGGTGCGTTTTCCCTGGCTCCTTGGACAGCTGGGGTCCTGGGGTGGCTGCACGCCCCTCCCTGTGAGCAGACCCACTTACGTTCAGAACCAAGAGGGTGCTTCCCTTCTAGAAGGTGCTATACTCCAGAGCCCCACCTGCCCTCCCTGGGGCCCTGGATGCAGACTTCCCGTTTGCAGTCCCCACTGGGGTCCTTGCAGGCAGTGTGGGAGGCAGCCTGGAGTGGCTGTGCATGGGCGCAGTGTGGGGCAGGCCTGCTCACTCAGCCCTGGGTGGGTGGGCAATGCTGCTACCACGCCCCATGGAGGCAGAATCTTGTGCCTGGAGAGGGCACTTCCACGCTGTGGCTGGGGGGGTTTTGTTCCATGTCCTTTCCAGAAACCACAGATTGTAAGGTGATGTGTCTAGTTCACAATGCCTGTATGTGGGTGTGTGTGTGTGTGTTATGTGCGTATGTGCATAATATGTGTTTGTGTTGTGTGTGTATAATTTTATGTTACCTGTATACTATGGGTATGTGTATATGTATCACATGGGTGTGTATGTACTGTATGTGTGCGTGCATACTGTGTATACATATTGTATGTGCATATGTTGTATTTAGTATGTGTGCTGTGTTGTGTGCACATGTATGCATTATACATGTATATCAGTATGTTTGCATATGTGTATTTATGTATCTGTGTCACAGGTATGTATCCTATACATCTATGTGCGTATATGTGTGTGCACATGACATGTAGACATGTGTTAGTATGTGCTTGTGTTAGTGTTTGTGTGTTAGTGTGGGTTAGTGTATGTTTTAGTGTATGTTAGTGTGTTTGTGTGTTAGTGTGTGGGTTTGTGTTTGTGTTTCTGTGTTAGTGTGTGTGTTAGTGTGCGTTAGTTTGTGTTTGTGTGTGTATGTTAGTGTATGTTAGTGTTAGTGTGTGTTAGTATGTGGGTTAGTGTGTGTGTTTGTGTGTTAGTGTGTGTGTTAGTATGTGTTTGTGTTAGTGTGTATTTGTGTGTGTTAGTGTTTGTGTGTGTTTGTGGGTTAGTGTGTGTTAGTGTGGGTTACTGTGTGTTAGTGTTTGTGTGTTAGTGTGTTTTTGTGTGTGTTAGTGTGTGGGTTAGTGTTTGTGTGTGTGTCAGTGTGTGTGTGTTAGTGTGCATATCTATTGTGTGTGTGTGTGCATCACACATGCACGTGCACCACGTGATCTCCTCTGTAGACACGGAGTTCCCTAGCTTCAGGGTGGGTCCTTTGCATCCCATCAACCGTCCTTGGGCGAGGCAGCAGCAGGGTCCTCCTCAGCTGAGGACTGCCTTCTCACTTGCGACCCCAATCCCAGTGCCCAGTATGACCCCTTCCTGGGCACATACAGATGGACCAGCCCACCTGGCCCCCAGAATGGTCCCTGGGAATGGGTTAGAGCGGCTGCAGCCCTGCCCCATGGGACTGGGCCCCTTGCTGGATAAGACCTGGGGTATAAGTTCTGCCCCCCATGCTGGCCCAGGACAGGCAGGCTGGGCCCGAGGTGGGACTTGGGGGGGCTTCCAGCACTGACCATACCTGGCCTTCCCACAACGGTGACCGGTAACCACGTCCTGAGGCTGCACCCAGCTGGCAGTGGCCTGTGTGGACGGGAGCCTCCTGTCCATTCCTTCCCAGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCTCACTCATTCAGGTGCGGTGCCTGCAAGGCCCTGGTCACTGTCATTTTGGTCACTGTTATTGTTGCATCCAGCCCTCACGGCCACCTGTCAGAACCATCATTGGCCCCTGCATCAGCTTGGCTGGCCTGTGGGGCATACTCTGCTTGTGGAAGCCTTGGCTGCTGTGGTGATGGGGTGAGCACGGGGCATTGGAGCCTGTCTTCCTCCAAAGCTGCTCCCATCAAGGGCCATGCCCTGTGGGCTGGAGAGGAGGCACGGCCGTGGCCATGCCAGGAGTGGACGTGGTTGGCTCTGAGGCTCCCTTGTGCTCCCATTCTCCCTCCCACTGCACAACAACCTGAGGGCTGAGTCTGGGAGTGGGGTGGCCAGGTGATTGTCCCCAAGGGAGGTAGGACCCAGCTGTGCAGTTGGTGCCTTCTGGAGGGCCTGGCATCCCTCAGGGCTCGGGAGGCCCTGGTGCCTGGAGGTGAGGACTGGCGATGGATGGCATGGGCCTCCCTCTGGGCTCACAAGGCCAGTGGGCTGGGAAAGGCAGAGCCCTGGAGCAACAGGGGCAGGAAGGTTCTGGAGGCAGGTGGGGAGGCAGGCAGTACCAAGCTCTGGGATGCTGGGCTCTGGCTCTGTCACTCCAGGCTCTCCAGGACCCACCAGAGAATGGGACTGCTCTGTTAACGTAAGCAAGGACTTGGCACAGGAGTCACTTGAGAATTGCGTCCCTGTGGGTCTCTCTTGTTGGCCACTGCAGGGCCAGGGCTGCCCTGAGGAACAGCCGCTGAGGTGCCCAGAGGGTGGGCGTTGCCGGGTTGAATGACAAGTGCCCACTGGGGATAGGGCCTCCGCCCAGTGCAGTGGCTGGGAGCACAGTGTCAGTTCCTCTGGGCACACTGGGCCTGATGTCCCCCAGGAAGGCCCAGGACCTGGGCAGCCCCCGCTGGCTGGCGTCCCCCCTGCAGTCCTCGTGAGCTCGCTGCCCCAGGCAAGGCCCAGGCTGTCAGGGGCCAGTCGCAGTCCTCCTGCACTCCTGGCTCAGCCATCGGGGGGGCTGTGTGCTCCCACCCTTAGCCTGGTTTTATGGCTTCACAGTTTCTCCTTCCTGGGAGACCATAAATCAGGCCCGTAAACCCGCCTTGGTCCCAGCATGAGCATGCTGGCCGCCCACGCCTGGCAGGGGACCACATTGGATTCCTGGTCCCACTCCCTGGGAACCACAGGTCCTTTGAAAGGGGTTCCCTCGGAAGCTGCACACACTGTGGGAGGACTGGAGTAGGGGCCCCAGGTGGCAGGTGTGCACAGGAGCAGGGCAGGGGTCATGGGGTTTGCCAGGGTTGGGGGACCACGTGGAGTGCTCAGCCTGTGTGTGTAACACTCGGGCCTTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCA:C,KCNQ1,VCV000977170,977170,NM_000218.3(KCNQ1):c.1032+1_1129-1del,Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2587646:GC:G,KCNQ1,VCV000966649,966649,NM_000218.3(KCNQ1):c.1207del (p.His403fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583477:A:C,KCNQ1,VCV000960695,960695,NM_000218.3(KCNQ1):c.964A>C (p.Thr322Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2777033:G:A,KCNQ1,VCV000956049,956049,NM_000218.3(KCNQ1):c.1732+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583547:T:C,KCNQ1,VCV000939724,939724,NM_000218.3(KCNQ1):c.1032+2T>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2588718:GAAAA:G,KCNQ1,VCV000930315,930315,NM_000218.3(KCNQ1):c.1262_1265del (p.Lys421fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2662006:T:TGAGAACCAACAGCTTCGCC,KCNQ1,VCV000926196,926196,NM_000218.3(KCNQ1):c.1443_1461dup (p.Asp488fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2588790:CA:C,KCNQ1,VCV000925351,925351,NM_000218.3(KCNQ1):c.1330del (p.Thr444fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2588815:CG:C,KCNQ1,VCV000922607,922607,NM_000218.3(KCNQ1):c.1356del (p.Leu453fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2585222:GCTCGGGGTTTG:CA,KCNQ1,VCV000919956,919956,NM_000218.3(KCNQ1):c.1043_1054delinsCA (p.Gly348fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572105:G:C,KCNQ1,VCV000869436,869436,NM_000218.3(KCNQ1):c.776G>C (p.Arg259Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2585288:C:A,KCNQ1,VCV000869435,869435,NM_000218.3(KCNQ1):c.1109C>A (p.Ala370Glu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2570626:AG:A,KCNQ1,VCV000869434,869434,NM_000218.2(KCNQ1):c.478_478del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2768869:ATTAAGGTCAT:A,KCNQ1,VCV000869433,869433,NM_000218.3(KCNQ1):c.1542_1551del (p.Lys515fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572874:TCCTGGG:T,KCNQ1,VCV000861314,861314,NM_000218.3(KCNQ1):c.813_818del (p.Gly272_Leu273del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572072:G:A,KCNQ1,VCV000855976,855976,NM_000218.3(KCNQ1):c.743G>A (p.Trp248Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2587671:CA:C,KCNQ1,VCV000844409,844409,NM_000218.3(KCNQ1):c.1233del (p.Lys411fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572107:C:T,KCNQ1,VCV000842276,842276,NM_000218.3(KCNQ1):c.778C>T (p.Gln260Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2570712:TGG:T,KCNQ1,VCV000817323,817323,NM_000218.3(KCNQ1):c.566_567del (p.Gly189fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2570662:AC:A,KCNQ1,VCV000817016,817016,NM_000218.3(KCNQ1):c.513del (p.Glu170_Tyr171insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2587693:G:A,KCNQ1,VCV000812675,812675,NM_000218.3(KCNQ1):c.1251+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2445471:T:A,KCNQ1,VCV000684802,684802,NM_000218.3(KCNQ1):c.373T>A (p.Tyr125Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2528008:T:C,KCNQ1,VCV000684787,684787,NM_000218.3(KCNQ1):c.467T>C (p.Leu156Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2776056:T:G,KCNQ1,VCV000667007,667007,NM_000218.3(KCNQ1):c.1685+2T>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572055:C:A,KCNQ1,VCV000665471,665471,NM_000218.3(KCNQ1):c.726C>A (p.Asp242Glu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583486:G:C,KCNQ1,VCV000660595,660595,NM_000218.3(KCNQ1):c.973G>C (p.Gly325Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2571404:G:A,KCNQ1,VCV000651458,651458,NM_000218.3(KCNQ1):c.683+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583550:G:T,KCNQ1,VCV000641597,641597,NM_000218.3(KCNQ1):c.1032+5G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2585305:C:T,KCNQ1,VCV000620198,620198,NM_000218.3(KCNQ1):c.1126C>T (p.Gln376Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572846:G:T,KCNQ1,VCV000620103,620103,NM_000218.3(KCNQ1):c.781G>T (p.Glu261Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2768851:GA:G,KCNQ1,VCV000587644,587644,NM_000218.3(KCNQ1):c.1524del (p.Glu508fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583433:A:G,KCNQ1,VCV000582668,582668,NM_000218.3(KCNQ1):c.922-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583442:TCAC:T,KCNQ1,VCV000581345,581345,NM_000218.3(KCNQ1):c.932CCA[1] (p.Thr312del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2587579:A:T,KCNQ1,VCV000581004,581004,NM_000218.3(KCNQ1):c.1138A>T (p.Arg380Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2768841:CAG:C,KCNQ1,VCV000576205,576205,NM_000218.3(KCNQ1):c.1515-2_1515-1del,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2571324:G:C,KCNQ1,VCV000573523,573523,NM_000218.3(KCNQ1):c.605-1G>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572061:GGGAGGCACCT:G,KCNQ1,VCV000570590,570590,NM_000218.3(KCNQ1):c.739_748del (p.Thr247fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2777002:G:C,KCNQ1,VCV000570319,570319,NM_000218.3(KCNQ1):c.1702G>C (p.Gly568Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583545:G:T,KCNQ1,VCV000560649,560649,NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572850:T:C,KCNQ1,VCV000560359,560359,NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2588717:AG:A,KCNQ1,VCV000526930,526930,NM_000218.3(KCNQ1):c.1257del (p.Lys422fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2445192:A:T,KCNQ1,VCV000523769,523769,NM_000218.3(KCNQ1):c.94A>T (p.Lys32Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583447:A:T,KCNQ1,VCV000522585,522585,NM_000218.3(KCNQ1):c.934A>T (p.Thr312Ser),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572059:C:T,KCNQ1,VCV000519369,519369,NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2570659:AG:A,KCNQ1,VCV000519357,519357,NM_000218.3(KCNQ1):c.510del (p.Glu170fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2777034:TG:T,KCNQ1,VCV000517664,517664,NM_000218.3(KCNQ1):c.1732+5del,Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2661990:AGCAT:A,KCNQ1,VCV000496690,496690,NM_000218.3(KCNQ1):c.1426_1429del (p.Met476fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2445473:C:A,KCNQ1,VCV000489011,489011,NM_000218.3(KCNQ1):c.375C>A (p.Tyr125Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572899:C:G,KCNQ1,VCV000456869,456869,NM_000218.3(KCNQ1):c.834C>G (p.Tyr278Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583456:T:C,KCNQ1,VCV000449302,449302,NM_000218.3(KCNQ1):c.943T>C (p.Tyr315His),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2571373:A:AG,KCNQ1,VCV000449283,449283,NM_000218.3(KCNQ1):c.657dup (p.Gln220fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2775977:C:CGATGT,KCNQ1,VCV000448975,448975,NM_000218.3(KCNQ1):c.1610_1614dup (p.Arg539fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572060:AGG:A,KCNQ1,VCV000438610,438610,NM_000218.3(KCNQ1):c.733_734del (p.Gly245fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2570706:G:T,KCNQ1,VCV000432149,432149,NM_000218.3(KCNQ1):c.556G>T (p.Gly186Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2588785:CA:C,KCNQ1,VCV000431370,431370,NM_000218.3(KCNQ1):c.1325del (p.His442fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2768860:CG:C,KCNQ1,VCV000430941,430941,NM_000218.3(KCNQ1):c.1534del (p.Ala512fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2528004:ACT:A,KCNQ1,VCV000421737,421737,NM_000218.3(KCNQ1):c.468_469del (p.Phe157fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2445231:C:CCGGCGGG,KCNQ1,VCV000420658,420658,NM_000218.3(KCNQ1):c.139_145dup (p.Ala49fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2571340:TG:T,KCNQ1,VCV000420529,420529,NM_000218.3(KCNQ1):c.622del (p.Ala208fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2445478:T:TCG,KCNQ1,VCV000419579,419579,NM_000218.3(KCNQ1):c.382_383dup (p.Val129fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2587616:G:A,KCNQ1,VCV000405268,405268,NM_000218.3(KCNQ1):c.1175G>A (p.Trp392Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2778025:AG:A,KCNQ1,VCV000405264,405264,NM_000218.3(KCNQ1):c.1783del (p.Arg594_Val595insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572912:G:C,KCNQ1,VCV000405263,405263,NM_000218.3(KCNQ1):c.847G>C (p.Ala283Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572068:ACCTGGAGGCT:A,KCNQ1,VCV000405262,405262,NM_000218.3(KCNQ1):c.745_754del (p.Arg249fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2585225:C:A,KCNQ1,VCV000405261,405261,NM_000218.3(KCNQ1):c.1046C>A (p.Ser349Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572050:G:T,KCNQ1,VCV000405255,405255,NM_000218.3(KCNQ1):c.721G>T (p.Val241Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572883:T:C,KCNQ1,VCV000405254,405254,NM_000218.3(KCNQ1):c.818T>C (p.Leu273Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572846:GA:TT,KCNQ1,VCV000405253,405253,NM_000218.3(KCNQ1):c.781_782delinsTT (p.Glu261Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,MNV_or_substitution,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2572908:C:A,KCNQ1,VCV000379504,379504,NM_000218.3(KCNQ1):c.843C>A (p.Tyr281Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-11:2583434:G:A,KCNQ1,VCV000372568,372568,NM_000218.3(KCNQ1):c.922-1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958401:CCGGGGCGCCCGCGCCGCCCGCG:C,KCNH2,VCV004804554,4804554,NM_000238.4(KCNH2):c.552_573del (p.Ala185fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150957304:TCA:T,KCNH2,VCV004763986,4763986,NM_000238.4(KCNH2):c.1113_1114del (p.Lys373fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974776:TG:T,KCNH2,VCV004758983,4758983,NM_000238.4(KCNH2):c.241del (p.Gln81fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952789:CA:C,KCNH2,VCV004758579,4758579,NM_000238.4(KCNH2):c.1192del (p.Trp398fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947810:C:CCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCT,KCNH2,VCV004757905,4757905,NM_000238.4(KCNH2):c.2699_2760dup (p.Gly921fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974714:CT:C,KCNH2,VCV004733133,4733133,NM_000238.4(KCNH2):c.303del (p.Asp102fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948451:C:CGT,KCNH2,VCV004728357,4728357,NM_000238.4(KCNH2):c.2683_2684dup (p.Asp896fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974927:TG:T,KCNH2,VCV004727073,4727073,NM_000238.4(KCNH2):c.90del (p.Ile31fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950996:GGGGATCT:G,KCNH2,VCV004726900,4726900,NM_000238.4(KCNH2):c.2063_2069del (p.Gln688fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951619:G:A,KCNH2,VCV004724072,4724072,NM_000238.4(KCNH2):c.1774C>T (p.Gln592Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947659:TC:T,KCNH2,VCV004722731,4722731,NM_000238.4(KCNH2):c.2911del (p.Glu971fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948935:AG:A,KCNH2,VCV004721201,4721201,NM_000238.4(KCNH2):c.2512del (p.Leu838fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958060:G:GGT,KCNH2,VCV004720344,4720344,NM_000238.4(KCNH2):c.913_914dup (p.Gly306fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950985:C:CT,KCNH2,VCV004720342,4720342,NM_000238.4(KCNH2):c.2080_2081insA (p.Arg694fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948873:TG:T,KCNH2,VCV004719590,4719590,NM_000238.4(KCNH2):c.2574del (p.Thr859fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951653:GT:G,KCNH2,VCV004715748,4715748,NM_000238.4(KCNH2):c.1739del (p.Asp580fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950398:CACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCA:C,KCNH2,VCV004715444,4715444,NM_000238.4(KCNH2):c.2146-50_2167del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947816:T:TC,KCNH2,VCV004714508,4714508,NM_000238.4(KCNH2):c.2754_2755insG (p.Ser919fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947516:T:C,KCNH2,VCV004710895,4710895,NM_000238.4(KCNH2):c.2966-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947452:G:A,KCNH2,VCV004710749,4710749,NM_000238.4(KCNH2):c.3028C>T (p.Gln1010Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951022:C:A,KCNH2,VCV004709557,4709557,NM_000238.4(KCNH2):c.2044G>T (p.Glu682Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950393:G:A,KCNH2,VCV004709556,4709556,NM_000238.4(KCNH2):c.2173C>T (p.Gln725Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974868:CTCGCAGAAGCCGTCG:C,KCNH2,VCV004686179,4686179,NM_000238.4(KCNH2):c.135_149del (p.Asn45_Glu50delinsLys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974766:C:CTGCGCGATCTGCGCGGCAGCGCGGCGCTGCG,KCNH2,VCV004681926,4681926,NM_000238.4(KCNH2):c.221_251dup (p.Gln84fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947386:GACCC:CCG,KCNH2,VCV004614356,4614356,NM_000238.4(KCNH2):c.3090_3094delinsCGG (p.Arg1032fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958125:ACGAGGCGCGGCGCACG:A,KCNH2,VCV004614351,4614351,NM_000238.4(KCNH2):c.834_849del (p.Val279fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150977911:CAT:C,KCNH2,VCV004614346,4614346,NM_000238.4(KCNH2):c.1_2del (p.Met1fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950421:CTGGGGGCAGGG:C,KCNH2,VCV004614344,4614344,NM_000238.4(KCNH2):c.2146-12_2146-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958115:T:TCGTCGGC,KCNH2,VCV004529668,4529668,NM_000238.4(KCNH2):c.853_859dup (p.Asp287fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947398:A:AGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATC,KCNH2,VCV004281328,4281328,NM_000238.4(KCNH2):c.3041_3081dup (p.Ser1028fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951686:G:T,KCNH2,VCV004280330,4280330,NM_000238.4(KCNH2):c.1707C>A (p.Tyr569Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952518:G:GCGGC,KCNH2,VCV004090314,4090314,NM_000238.4(KCNH2):c.1460_1463dup (p.Ile489fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951522:C:A,KCNH2,VCV004074744,4074744,NM_000238.4(KCNH2):c.1871G>T (p.Ser624Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974883:G:GGAC,KCNH2,VCV004074721,4074721,NM_000238.4(KCNH2):c.134_135insGTC (p.Asn45delinsLysSer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150949002:CA:C,KCNH2,VCV004071954,4071954,NM_000238.4(KCNH2):c.2445del (p.Gly816fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948455:CGCCT:C,KCNH2,VCV003911914,3911914,NM_000238.4(KCNH2):c.2677_2680del (p.Arg893fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950971:C:A,KCNH2,VCV003911046,3911046,NM_000238.4(KCNH2):c.2095G>T (p.Glu699Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951627:A:G,KCNH2,VCV003900638,3900638,NM_000238.4(KCNH2):c.1766T>C (p.Leu589Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950199:G:C,KCNH2,VCV003895127,3895127,NM_000238.4(KCNH2):c.2367C>G (p.Ile789Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948472:CTTGCGCTTGCG:C,KCNH2,VCV003895051,3895051,NM_000238.4(KCNH2):c.2653_2663del (p.Arg885fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150977847:C:T,KCNH2,VCV003895040,3895040,NM_000238.4(KCNH2):c.67G>A (p.Glu23Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952746:C:T,KCNH2,VCV003894984,3894984,NM_000238.4(KCNH2):c.1236G>A (p.Trp412Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948465:AG:A,KCNH2,VCV003894466,3894466,NM_000238.4(KCNH2):c.2670del (p.Phe891fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947792:ACGGCCCCCCCGGC:A,KCNH2,VCV003893973,3893973,NM_000238.4(KCNH2):c.2766_2778del (p.Pro923fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958239:C:CGG,KCNH2,VCV003862757,3862757,NM_000238.4(KCNH2):c.734_735dup (p.Gly246fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947802:C:CG,KCNH2,VCV003775096,3775096,NM_000238.4(KCNH2):c.2768dup (p.Pro926fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947833:GC:G,KCNH2,VCV003773804,3773804,NM_000238.4(KCNH2):c.2737del (p.Ala913fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947606:CT:C,KCNH2,VCV003764662,3764662,NM_000238.4(KCNH2):c.2964del (p.Gly989fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150977853:T:TG,KCNH2,VCV003728256,3728256,NM_000238.4(KCNH2):c.60dup (p.Lys21fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974851:CG:C,KCNH2,VCV003724054,3724054,NM_000238.4(KCNH2):c.166del (p.Arg56fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948466:G:GGACAACTT,KCNH2,VCV003721525,3721525,NM_000238.4(KCNH2):c.2662_2669dup (p.Phe891fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974776:T:TGCGCGGCA,KCNH2,VCV003720793,3720793,NM_000238.4(KCNH2):c.234_241dup (p.Gln81fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951583:C:A,KCNH2,VCV003720791,3720791,NM_000238.4(KCNH2):c.1810G>T (p.Gly604Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950211:GC:G,KCNH2,VCV003720787,3720787,NM_000238.4(KCNH2):c.2354del (p.Gly785fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947804:GCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGC:G,KCNH2,VCV003712259,3712259,NM_000238.4(KCNH2):c.2732_2766del (p.Gly911fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952480:T:G,KCNH2,VCV003657287,3657287,NM_000238.4(KCNH2):c.1502A>C (p.Asp501Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974794:TGC:T,KCNH2,VCV003655448,3655448,NM_000238.4(KCNH2):c.222_223del (p.Gln75fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951069:AG:A,KCNH2,VCV003651645,3651645,NM_000238.4(KCNH2):c.1996del (p.Leu666fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958119:CG:C,KCNH2,VCV003651113,3651113,NM_000238.4(KCNH2):c.855del (p.Asp286fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950175:GGCCACGACGACGTC:G,KCNH2,VCV003602222,3602222,NM_000238.4(KCNH2):c.2377_2390del (p.Asp793fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974842:A:G,KCNH2,VCV003544416,3544416,NM_000238.4(KCNH2):c.176T>C (p.Val59Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951076:G:A,KCNH2,VCV003386898,3386898,NM_000238.4(KCNH2):c.1990C>T (p.Gln664Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974852:G:A,KCNH2,VCV003383250,3383250,NM_000238.4(KCNH2):c.166C>T (p.Arg56Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951102:A:T,KCNH2,VCV003382540,3382540,NM_000238.4(KCNH2):c.1964T>A (p.Ile655Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951462:A:AC,KCNH2,VCV003376960,3376960,NM_000238.4(KCNH2):c.1930dup (p.Val644fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947807:GGCCCCGGCTACTCGGCCCT:G,KCNH2,VCV003376939,3376939,NM_000238.4(KCNH2):c.2745_2763del (p.Pro917fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951801:C:G,KCNH2,VCV003370336,3370336,NM_000238.4(KCNH2):c.1592G>C (p.Arg531Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974774:T:TCTGCGCGG,KCNH2,VCV003341931,3341931,NM_000238.4(KCNH2):c.236_243dup (p.Ile82fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952717:G:T,KCNH2,VCV003338328,3338328,NM_000238.4(KCNH2):c.1265C>A (p.Ala422Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947400:AG:A,KCNH2,VCV003255227,3255227,NM_000238.4(KCNH2):c.3079del (p.Leu1027fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951576:GAGGGGCCGCCCAG:ATACATACTT,KCNH2,VCV003254651,3254651,NM_000238.4(KCNH2):c.1804_1817delinsAAGTATGTAT (p.Leu602fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958109:TCGATGTCGTCGGCCGA:T,KCNH2,VCV003254536,3254536,NM_000238.4(KCNH2):c.850_865del (p.Ser284fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950944:TGTAGG:T,KCNH2,VCV003252026,3252026,NM_000238.4(KCNH2):c.2117_2121del (p.Ser706fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150977842:G:GGC,KCNH2,VCV003236854,3236854,NM_000238.4(KCNH2):c.71_72insGC (p.Gln25fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947367:ACGTCGCCC:A,KCNH2,VCV003230731,3230731,NM_000238.4(KCNH2):c.3105_3112del (p.Asp1037fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974721:G:C,KCNH2,VCV003230730,3230730,NM_000238.4(KCNH2):c.297C>G (p.Tyr99Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950843:TGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGG:T,KCNH2,VCV003230725,3230725,NM_000238.4(KCNH2):c.2013_2145+77del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952852:A:AC,KCNH2,VCV003076042,3076042,NC_000007.14:g.150952854dup,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952817:TG:T,KCNH2,VCV003076025,3076025,NM_000238.4(KCNH2):c.1164del (p.Glu387_Tyr388insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947857:A:ACCTC,KCNH2,VCV003075307,3075307,NM_000238.4(KCNH2):c.2710_2713dup (p.Val905fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950920:CCG:C,KCNH2,VCV003074111,3074111,NM_000238.4(KCNH2):c.2144_2145del (p.Ala715fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951479:CT:C,KCNH2,VCV003068475,3068475,NM_000238.4(KCNH2):c.1913del (p.Lys638fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951530:G:T,KCNH2,VCV003066169,3066169,NM_000238.4(KCNH2):c.1863C>A (p.Ser621Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951730:A:G,KCNH2,VCV003064233,3064233,NM_000238.4(KCNH2):c.1663T>C (p.Cys555Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958303:CCCTG:C,KCNH2,VCV002918473,2918473,NM_000238.4(KCNH2):c.668_671del (p.Ala223fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150946999:G:A,KCNH2,VCV002906537,2906537,NM_000238.4(KCNH2):c.3208C>T (p.Gln1070Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974750:C:A,KCNH2,VCV002880265,2880265,NM_000238.4(KCNH2):c.268G>T (p.Glu90Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958139:AC:A,KCNH2,VCV002858211,2858211,NM_000238.4(KCNH2):c.835del (p.Val279fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150946925:C:CA,KCNH2,VCV002832789,2832789,NM_000238.4(KCNH2):c.3281dup (p.Leu1095fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948906:ACTCAGGGT:A,KCNH2,VCV002821739,2821739,NM_000238.4(KCNH2):c.2534_2541del (p.Tyr845fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952722:G:C,KCNH2,VCV002814358,2814358,NM_000238.4(KCNH2):c.1260C>G (p.Tyr420Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150957440:AG:A,KCNH2,VCV002813131,2813131,NM_000238.4(KCNH2):c.978del (p.Tyr327fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958217:G:GC,KCNH2,VCV002790199,2790199,NM_000238.4(KCNH2):c.757dup (p.Ala253fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948995:G:C,KCNH2,VCV002773436,2773436,NM_000238.4(KCNH2):c.2453C>G (p.Ser818Trp),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947795:GCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCC:G,KCNH2,VCV002773424,2773424,NM_000238.4(KCNH2):c.2742_2775del (p.Ala915fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952632:C:CTGGCAGGCGTAGCCACACTCGG,KCNH2,VCV002772506,2772506,NM_000238.4(KCNH2):c.1328_1349dup (p.Gln450fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950146:GTGCCCGCCCCCCACCCCATACC:G,KCNH2,VCV002770983,2770983,NM_000238.4(KCNH2):c.2398_2398+21del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947384:C:CCG,KCNH2,VCV002763043,2763043,NM_000238.4(KCNH2):c.3094_3095dup (p.Arg1033fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952800:GC:G,KCNH2,VCV002760013,2760013,NM_000238.4(KCNH2):c.1181del (p.Arg394fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951768:TA:T,KCNH2,VCV002758800,2758800,NM_000238.4(KCNH2):c.1624del (p.Tyr542fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150946808:AGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCT:A,KCNH2,VCV002758297,2758297,NM_000238.4(KCNH2):c.3194_3330+68del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958207:G:GA,KCNH2,VCV002754986,2754986,NM_000238.4(KCNH2):c.767dup (p.Asn257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958315:GT:G,KCNH2,VCV002753718,2753718,NM_000238.4(KCNH2):c.659del (p.Asn220fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948483:G:GTTGCC,KCNH2,VCV002748964,2748964,NM_000238.4(KCNH2):c.2648_2652dup (p.Arg885fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951767:G:T,KCNH2,VCV002748626,2748626,NM_000238.4(KCNH2):c.1626C>A (p.Tyr542Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974846:C:A,KCNH2,VCV002746100,2746100,NM_000238.4(KCNH2):c.172G>T (p.Glu58Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947378:G:GGGCC,KCNH2,VCV002745936,2745936,NM_000238.4(KCNH2):c.3098_3101dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947055:C:G,KCNH2,VCV002744101,2744101,NM_000238.4(KCNH2):c.3153-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951515:GC:G,KCNH2,VCV002735100,2735100,NM_000238.4(KCNH2):c.1877del (p.Gly626fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951109:CA:C,KCNH2,VCV002735098,2735098,NM_000238.4(KCNH2):c.1956del (p.Met651_Tyr652insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150949051:T:C,KCNH2,VCV002735096,2735096,NM_000238.4(KCNH2):c.2399-2A>G,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958121:GCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTT:ACGCCTCGGGCTC,KCNH2,VCV002727880,2727880,NM_000238.4(KCNH2):c.769_854delinsGAGCCCGAGGCGT (p.Asn257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950402:CAG:C,KCNH2,VCV002725070,2725070,NM_000238.4(KCNH2):c.2162_2163del (p.Pro721fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950409:G:GC,KCNH2,VCV002698764,2698764,NM_000238.4(KCNH2):c.2156dup (p.Phe720fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947804:GCCGGCCCCGGCTACTCGGC:G,KCNH2,VCV002694065,2694065,NM_000238.4(KCNH2):c.2748_2766del (p.Pro917fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150946949:A:AC,KCNH2,VCV002687478,2687478,NM_000238.4(KCNH2):c.3257_3258insG (p.Gly1087fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951639:C:T,KCNH2,VCV002665002,2665002,NM_000238.4(KCNH2):c.1754G>A (p.Trp585Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947853:CG:C,KCNH2,VCV002664629,2664629,NM_000238.4(KCNH2):c.2717del (p.Ser906fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947683:G:GGCCT,KCNH2,VCV002637626,2637626,NM_000238.4(KCNH2):c.2884_2887dup (p.Pro963fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150957325:TC:T,KCNH2,VCV002579645,2579645,NM_000238.4(KCNH2):c.1093del (p.Glu365fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948983:A:G,KCNH2,VCV002575020,2575020,NM_000238.4(KCNH2):c.2465T>C (p.Val822Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951699:G:C,KCNH2,VCV002574032,2574032,NM_000238.4(KCNH2):c.1694C>G (p.Ala565Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947360:GCTCTCCACGTCGCCCCG:CCGCCGACCC,KCNH2,VCV002571299,2571299,NM_000238.4(KCNH2):c.3103_3120delinsGGGTCGGCGG (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947643:GT:G,KCNH2,VCV002567296,2567296,NM_000238.4(KCNH2):c.2927del (p.Asp976fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951447:C:G,KCNH2,VCV002452993,2452993,NM_000238.4(KCNH2):c.1945+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150957427:CT:C,KCNH2,VCV002442075,2442075,NM_000238.4(KCNH2):c.991del (p.Ser331fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150946928:CGG:C,KCNH2,VCV002429379,2429379,NM_000238.4(KCNH2):c.3277_3278del (p.Pro1093fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947713:A:AG,KCNH2,VCV002227986,2227986,NM_000238.4(KCNH2):c.2857dup (p.Leu953fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951459:A:C,KCNH2,VCV002136626,2136626,NM_000238.4(KCNH2):c.1934T>G (p.Met645Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947034:G:GC,KCNH2,VCV002136623,2136623,NM_000238.4(KCNH2):c.3172dup (p.Ala1058fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952634:GGCAGGCGTAGCCACACTCGGTA:G,KCNH2,VCV002133333,2133333,NM_000238.4(KCNH2):c.1326_1347del (p.Thr443fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150945474:G:GC,KCNH2,VCV002130516,2130516,NM_000238.4(KCNH2):c.3370dup (p.Ala1124fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948544:C:G,KCNH2,VCV002128179,2128179,NM_000238.4(KCNH2):c.2593-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951045:TGGTA:T,KCNH2,VCV002125899,2125899,NM_000238.4(KCNH2):c.2017_2020del (p.Tyr673fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951488:G:T,KCNH2,VCV002121024,2121024,NM_000238.4(KCNH2):c.1905C>A (p.Asn635Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951710:CGCGATGA:C,KCNH2,VCV002120904,2120904,NM_000238.4(KCNH2):c.1676_1682del (p.Leu559fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951812:CG:C,KCNH2,VCV002095758,2095758,NM_000238.4(KCNH2):c.1580del (p.Ala527fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951469:TGGA:T,KCNH2,VCV002088283,2088283,NM_000238.4(KCNH2):c.1921_1923del (p.Ser641del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947872:T:TC,KCNH2,VCV002085464,2085464,NM_000238.4(KCNH2):c.2698dup (p.Glu900fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950260:A:AGT,KCNH2,VCV002078663,2078663,NM_000238.4(KCNH2):c.2304_2305dup (p.Leu769fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950406:G:GA,KCNH2,VCV002071298,2071298,NM_000238.4(KCNH2):c.2159dup (p.Pro721_Glu722insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950961:TG:T,KCNH2,VCV002062924,2062924,NM_000238.4(KCNH2):c.2104del (p.Gln702fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951769:A:G,KCNH2,VCV002055725,2055725,NM_000238.4(KCNH2):c.1624T>C (p.Tyr542His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951690:C:T,KCNH2,VCV002042701,2042701,NM_000238.4(KCNH2):c.1703G>A (p.Trp568Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150946955:C:CGGGGTGG,KCNH2,VCV002033107,2033107,NM_000238.4(KCNH2):c.3245_3251dup (p.Gly1085fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951345:AGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCAT:A,KCNH2,VCV002032030,2032030,NM_000238.4(KCNH2):c.1720_1945+102del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958414:GCCGCCCGCGCCGC:G,KCNH2,VCV002023450,2023450,NM_000238.4(KCNH2):c.548_560del (p.Gly183fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951627:A:AGGTT,KCNH2,VCV002016168,2016168,NM_000238.4(KCNH2):c.1762_1765dup (p.Leu589fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947376:C:CGGGG,KCNH2,VCV002012895,2012895,NM_000238.4(KCNH2):c.3100_3103dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947718:GCTGGAGCTGCGGC:G,KCNH2,VCV002002742,2002742,NM_000238.4(KCNH2):c.2840_2852del (p.Gly947fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958414:GCCGCCCGC:G,KCNH2,VCV001994302,1994302,NM_000238.4(KCNH2):c.553_560del (p.Ala185fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950275:G:GGT,KCNH2,VCV001994292,1994292,NM_000238.4(KCNH2):c.2289_2290dup (p.Pro764fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958488:AG:A,KCNH2,VCV001968946,1968946,NM_000238.4(KCNH2):c.486del (p.Phe163fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150957404:T:A,KCNH2,VCV001805233,1805233,NM_000238.4(KCNH2):c.1015A>T (p.Asn339Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947380:G:GC,KCNH2,VCV001804945,1804945,NM_000238.4(KCNH2):c.3099dup (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150957290:C:G,KCNH2,VCV001799488,1799488,NM_000238.4(KCNH2):c.1128+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947667:C:CGGCG,KCNH2,VCV001797445,1797445,NM_000238.4(KCNH2):c.2900_2903dup (p.Gly969fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947676:TC:T,KCNH2,VCV001797337,1797337,NM_000238.4(KCNH2):c.2894del (p.Gly965fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947808:G:GC,KCNH2,VCV001795706,1795706,NM_000238.4(KCNH2):c.2762dup (p.Arg922fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947819:TCGGCCCTGCCCCCGCC:T,KCNH2,VCV001795334,1795334,NM_000238.4(KCNH2):c.2736_2751del (p.Ala913fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947836:C:CG,KCNH2,VCV001795320,1795320,NM_000238.4(KCNH2):c.2734dup (p.Arg912fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947826:TGCCCCCGCCCGGCCCG:T,KCNH2,VCV001795256,1795256,NM_000238.4(KCNH2):c.2729_2744del (p.Pro910fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948488:CG:C,KCNH2,VCV001794263,1794263,NM_000238.4(KCNH2):c.2647del (p.Arg883fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948880:C:CA,KCNH2,VCV001793177,1793177,NM_000238.4(KCNH2):c.2567dup (p.Glu857fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950189:C:CG,KCNH2,VCV001790360,1790360,NM_000238.4(KCNH2):c.2376dup (p.Asp793fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974788:CG:A,KCNH2,VCV001789092,1789092,NM_000238.4(KCNH2):c.229_230delinsT (p.Arg77fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950421:C:G,KCNH2,VCV001786650,1786650,NM_000238.4(KCNH2):c.2146-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974746:TCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAG:T,KCNH2,VCV001785054,1785054,NM_000238.4(KCNH2):c.205_271del (p.Leu69fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951106:TAGCAT:A,KCNH2,VCV001783287,1783287,NM_000238.4(KCNH2):c.1955_1960delinsT (p.Tyr652fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951650:TG:T,KCNH2,VCV001779222,1779222,NM_000238.4(KCNH2):c.1742del (p.Ser581fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951731:CAT:C,KCNH2,VCV001777473,1777473,NM_000238.4(KCNH2):c.1660_1661del (p.Met554fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952596:C:CA,KCNH2,VCV001771379,1771379,NM_000238.4(KCNH2):c.1385dup (p.Met462fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150957503:C:A,KCNH2,VCV001766052,1766052,NM_000238.4(KCNH2):c.917-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958070:TGGCGCGGTGGCGG:T,KCNH2,VCV001765131,1765131,NM_000238.4(KCNH2):c.892_904del (p.Pro298fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974931:G:C,KCNH2,VCV001764714,1764714,NM_000238.4(KCNH2):c.87C>G (p.Phe29Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958047:CGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCT:C,KCNH2,VCV001762927,1762927,NM_000238.4(KCNH2):c.832_916+11del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958239:C:CG,KCNH2,VCV001758500,1758500,NM_000238.4(KCNH2):c.735dup (p.Gly246fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958417:G:GC,KCNH2,VCV001748411,1748411,NM_000238.4(KCNH2):c.557dup (p.Gly187fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150959576:GGCCA:G,KCNH2,VCV001742104,1742104,NM_000238.4(KCNH2):c.464_467del (p.Leu155fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150959582:C:T,KCNH2,VCV001742024,1742024,NM_000238.4(KCNH2):c.462G>A (p.Trp154Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150959646:AT:A,KCNH2,VCV001736686,1736686,NM_000238.4(KCNH2):c.397del (p.Met133fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947385:CGA:C,KCNH2,VCV001727478,1727478,NM_000238.4(KCNH2):c.3093_3094del (p.Arg1032fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950163:C:T,KCNH2,VCV001713142,1713142,NM_000238.4(KCNH2):c.2398+5G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958105:G:GGCCTC,KCNH2,VCV001711664,1711664,NM_000238.4(KCNH2):c.865_869dup (p.Met291fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947667:C:CG,KCNH2,VCV001711663,1711663,NM_000238.4(KCNH2):c.2903dup (p.Gly970fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950365:C:CGGCT,KCNH2,VCV001701539,1701539,NM_000238.4(KCNH2):c.2200_2201insAGCC (p.Arg734fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951573:AT:A,KCNH2,VCV001698966,1698966,NM_000238.4(KCNH2):c.1819del (p.Ile607fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974937:AC:A,KCNH2,VCV001683771,1683771,NM_000238.4(KCNH2):c.80del (p.Arg27fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150959644:C:A,KCNH2,VCV001683770,1683770,NM_000238.4(KCNH2):c.400G>T (p.Glu134Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951528:A:T,KCNH2,VCV001676088,1676088,NM_000238.4(KCNH2):c.1865T>A (p.Leu622His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951789:ACGCGCACCAGCCGCAGCAGCCG:A,KCNH2,VCV001675096,1675096,NM_000238.4(KCNH2):c.1582_1603del (p.Arg528fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947814:G:GCTACTCGGCCCTGCCCCCGCCCGGCC,KCNH2,VCV001527874,1527874,NM_000238.4(KCNH2):c.2731_2756dup (p.Ser919fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952585:T:G,KCNH2,VCV001527873,1527873,NM_000238.4(KCNH2):c.1397A>C (p.Asp466Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150977911:C:T,KCNH2,VCV001524546,1524546,NM_000238.4(KCNH2):c.3G>A (p.Met1Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951121:C:G,KCNH2,VCV001521307,1521307,NM_000238.4(KCNH2):c.1946-1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948959:AGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTG:A,KCNH2,VCV001499958,1499958,NM_000238.4(KCNH2):c.2399-108_2488del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150957504:T:C,KCNH2,VCV001488212,1488212,NM_000238.4(KCNH2):c.917-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951836:C:G,KCNH2,VCV001473108,1473108,NM_000238.4(KCNH2):c.1558-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952693:G:T,KCNH2,VCV001467197,1467197,NM_000238.4(KCNH2):c.1289C>A (p.Ala430Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974784:AGCGCGGCGCTGCGT:A,KCNH2,VCV001458718,1458718,NM_000238.4(KCNH2):c.220_233del (p.Thr74fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150959621:C:CG,KCNH2,VCV001458716,1458716,NM_000238.4(KCNH2):c.422dup (p.Ala142fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952677:CTCCTTCA:C,KCNH2,VCV001457690,1457690,NM_000238.4(KCNH2):c.1298_1304del (p.Leu433fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950952:C:T,KCNH2,VCV001456278,1456278,NM_000238.4(KCNH2):c.2114G>A (p.Trp705Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974807:C:CGTGCAGGAAGTCGCAG,KCNH2,VCV001456173,1456173,NM_000238.4(KCNH2):c.195_210dup (p.Gly71fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150949012:A:T,KCNH2,VCV001455507,1455507,NM_000238.4(KCNH2):c.2436T>A (p.Tyr812Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948451:CG:C,KCNH2,VCV001455493,1455493,NM_000238.4(KCNH2):c.2684del (p.Thr895fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150959579:CA:C,KCNH2,VCV001453664,1453664,NM_000238.4(KCNH2):c.464del (p.Leu155fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958153:TTCTCGGGAGCGCG:T,KCNH2,VCV001452777,1452777,NM_000238.4(KCNH2):c.809_821del (p.Thr270fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950944:T:TGTAG,KCNH2,VCV001452601,1452601,NM_000238.4(KCNH2):c.2118_2121dup (p.Thr708fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947392:G:GGC,KCNH2,VCV001452025,1452025,NM_000238.4(KCNH2):c.3086_3087dup (p.Pro1030fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948910:AGG:A,KCNH2,VCV001439179,1439179,NM_000238.4(KCNH2):c.2536_2537del (p.Tyr845_Pro846insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150945386:G:GT,KCNH2,VCV001434518,1434518,NM_000238.4(KCNH2):c.3458dup (p.His1153fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951471:G:T,KCNH2,VCV001424837,1424837,NM_000238.4(KCNH2):c.1922C>A (p.Ser641Tyr),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947440:GA:G,KCNH2,VCV001422891,1422891,NM_000238.4(KCNH2):c.3039del (p.Arg1014fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947370:T:TCGCCC,KCNH2,VCV001414553,1414553,NM_000238.4(KCNH2):c.3105_3109dup (p.Asp1037fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958169:CG:C,KCNH2,VCV001410227,1410227,NM_000238.4(KCNH2):c.805del (p.Arg269fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948889:C:T,KCNH2,VCV001406991,1406991,NM_000238.4(KCNH2):c.2559G>A (p.Trp853Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947629:C:CTGCTCTTCTCG,KCNH2,VCV001398420,1398420,NM_000238.4(KCNH2):c.2931_2941dup (p.Ser981fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951763:C:CT,KCNH2,VCV001397577,1397577,NM_000238.4(KCNH2):c.1629dup (p.Glu544fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150959625:GA:G,KCNH2,VCV001338861,1338861,NM_000238.4(KCNH2):c.418del (p.Ser140fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150977872:GA:G,KCNH2,VCV001335697,1335697,NM_000238.4(KCNH2):c.41del (p.Phe14fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150957290:C:T,KCNH2,VCV001334904,1334904,NM_000238.4(KCNH2):c.1128+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150977836:A:T,KCNH2,VCV001331098,1331098,NM_000238.4(KCNH2):c.76+2T>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958185:TGGAGCCCGAGGCGTCG:T,KCNH2,VCV001323136,1323136,NM_000238.4(KCNH2):c.774_789del (p.Asp259fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951685:C:A,KCNH2,VCV001284270,1284270,NM_000238.4(KCNH2):c.1708G>T (p.Ala570Ser),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947796:CC:A,KCNH2,VCV001219815,1219815,NM_000238.4(KCNH2):c.2774_2775delinsT (p.Gly925fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150957460:G:T,KCNH2,VCV001215035,1215035,NM_000238.4(KCNH2):c.959C>A (p.Ser320Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951592:CG:C,KCNH2,VCV001213540,1213540,NM_000238.4(KCNH2):c.1800del (p.Ser600fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150977836:A:AC,KCNH2,VCV001211558,1211558,NM_000238.4(KCNH2):c.76+1dup,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958394:ACGGCCCCCGGGGCGCCCGCGCCGCCCGC:CCCGGT,KCNH2,VCV001202184,1202184,NM_000238.4(KCNH2):c.553_581delinsACCGGG (p.Ala185fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950957:GT:G,KCNH2,VCV001201653,1201653,NM_000238.4(KCNH2):c.2108del (p.His703fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947447:CT:C,KCNH2,VCV001191999,1191999,NM_000238.4(KCNH2):c.3032del (p.Glu1011fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951535:T:C,KCNH2,VCV001189275,1189275,NM_000238.4(KCNH2):c.1858A>G (p.Ser620Gly),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952557:G:T,KCNH2,VCV001178326,1178326,NM_000238.4(KCNH2):c.1425C>A (p.Tyr475Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950421:C:T,KCNH2,VCV001163877,1163877,NM_000238.4(KCNH2):c.2146-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947611:A:AG,KCNH2,VCV001098796,1098796,NM_000238.4(KCNH2):c.2959dup (p.Leu987fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948450:C:CCGTG,KCNH2,VCV001076538,1076538,NM_000238.4(KCNH2):c.2682_2685dup (p.Asp896fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150946951:G:GC,KCNH2,VCV001076264,1076264,NM_000238.4(KCNH2):c.3255dup (p.Pro1086fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947371:CGCCCCGGG:C,KCNH2,VCV001074304,1074304,NM_000238.4(KCNH2):c.3101_3108del (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947639:C:CGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCCTCCAG,KCNH2,VCV001073738,1073738,NM_000238.4(KCNH2):c.2931_2932insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu978fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150957462:GGT:G,KCNH2,VCV001072804,1072804,NM_000238.4(KCNH2):c.955_956del (p.Thr319fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948455:C:CGCCTG,KCNH2,VCV001072580,1072580,NM_000238.4(KCNH2):c.2676_2680dup (p.Arg894fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947373:C:CCCCGGGGCCG,KCNH2,VCV001072040,1072040,NM_000238.4(KCNH2):c.3097_3106dup (p.Gly1036fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951681:A:ATGGCG,KCNH2,VCV001070567,1070567,NM_000238.4(KCNH2):c.1707_1711dup (p.Ile571fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947380:GCCGCCGACCCGGGC:G,KCNH2,VCV001070541,1070541,NM_000238.4(KCNH2):c.3086_3099del (p.Ser1029fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974775:CTGCGCGGCAGCGCGGCGCTGCG:C,KCNH2,VCV001070208,1070208,NM_000238.4(KCNH2):c.221_242del (p.Thr74fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958418:CCCGCGCCGCCCGA:C,KCNH2,VCV001069329,1069329,NM_000238.4(KCNH2):c.544_556del (p.Ser182fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952509:GACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGT:G,KCNH2,VCV001069284,1069284,NM_000238.4(KCNH2):c.1420_1472del (p.Thr474fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948892:GA:G,KCNH2,VCV001068978,1068978,NM_000238.4(KCNH2):c.2555del (p.Phe852fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951565:T:C,KCNH2,VCV001066309,1066309,NM_000238.4(KCNH2):c.1828A>G (p.Lys610Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150957276:CCGCTGGGCGC:GT,KCNH2,VCV001064627,1064627,NM_000238.4(KCNH2):c.1128+5_1128+15delinsAC,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150949076:CT:C,KCNH2,VCV001064605,1064605,NM_000238.4(KCNH2):c.2399-28del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951562:ACTTGTC:A,KCNH2,VCV001058879,1058879,NM_000238.4(KCNH2):c.1825_1830del (p.Asp609_Lys610del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951496:T:G,KCNH2,VCV001001814,1001814,NM_000238.4(KCNH2):c.1897A>C (p.Asn633His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947162:GGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCC:G,KCNH2,VCV000992792,992792,NM_000238.4(KCNH2):c.2692+167_3153-109del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948459:TG:T,KCNH2,VCV000983076,983076,NM_000238.4(KCNH2):c.2676del (p.Arg893fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951098:GA:G,KCNH2,VCV000979201,979201,NM_000238.4(KCNH2):c.1967del (p.Phe656fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950221:A:G,KCNH2,VCV000977169,977169,NM_000238.4(KCNH2):c.2345T>C (p.Ile782Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951484:C:A,KCNH2,VCV000977166,977166,NM_000238.4(KCNH2):c.1909G>T (p.Glu637Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952753:C:T,KCNH2,VCV000972695,972695,NM_000238.4(KCNH2):c.1229G>A (p.Trp410Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974872:C:A,KCNH2,VCV000972694,972694,NM_000238.4(KCNH2):c.146G>T (p.Cys49Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150957416:G:A,KCNH2,VCV000968402,968402,NM_000238.4(KCNH2):c.1003C>T (p.Gln335Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958161:AGC:A,KCNH2,VCV000960485,960485,NM_000238.4(KCNH2):c.812_813del (p.Arg271fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951646:T:TGC,KCNH2,VCV000958799,958799,NM_000238.4(KCNH2):c.1745_1746dup (p.Ile583fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150957391:AG:A,KCNH2,VCV000956361,956361,NM_000238.4(KCNH2):c.1027del (p.Leu343fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958266:GAC:G,KCNH2,VCV000955885,955885,NM_000238.4(KCNH2):c.707_708del (p.Gly236fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947800:C:CCCGG,KCNH2,VCV000949692,949692,NM_000238.4(KCNH2):c.2767_2770dup (p.Gly924fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947367:A:ACGTCG,KCNH2,VCV000947666,947666,NM_000238.4(KCNH2):c.3108_3112dup (p.Val1038fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947610:CA:C,KCNH2,VCV000943648,943648,NM_000238.4(KCNH2):c.2960del (p.Leu987fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951705:C:T,KCNH2,VCV000943351,943351,NM_000238.4(KCNH2):c.1688G>A (p.Trp563Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951097:CG:AA,KCNH2,VCV000943187,943187,NM_000238.4(KCNH2):c.1968_1969delinsTT (p.Gly657Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,MNV_or_substitution,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951076:GGATGATGGCCGACACGTTGCCGAA:G,KCNH2,VCV000941189,941189,NM_000238.4(KCNH2):c.1966_1989del (p.Phe656_Ile663del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952784:TG:T,KCNH2,VCV000939419,939419,NM_000238.4(KCNH2):c.1197del (p.Ile400fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948478:CTTGCG:C,KCNH2,VCV000937320,937320,NM_000238.4(KCNH2):c.2653_2657del (p.Arg885fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950279:CAT:C,KCNH2,VCV000937182,937182,NM_000238.4(KCNH2):c.2285_2286del (p.His762fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951117:AGGGCTGG:A,KCNH2,VCV000936138,936138,NM_000238.4(KCNH2):c.1946-4_1948del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958070:TG:T,KCNH2,VCV000934348,934348,NM_000238.4(KCNH2):c.904del (p.His302fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947373:CCCCGGGG:GCC,KCNH2,VCV000928528,928528,NM_000238.4(KCNH2):c.3100_3107delinsGGC (p.Pro1034fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947517:G:C,KCNH2,VCV000871784,871784,NM_000238.4(KCNH2):c.2966-3C>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974923:G:A,KCNH2,VCV000869439,869439,NM_000238.4(KCNH2):c.95C>T (p.Ala32Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951460:T:G,KCNH2,VCV000869431,869431,NM_000238.4(KCNH2):c.1933A>C (p.Met645Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974820:G:T,KCNH2,VCV000863419,863419,NM_000238.4(KCNH2):c.198C>A (p.Cys66Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150957305:C:CAG,KCNH2,VCV000858246,858246,NM_000238.4(KCNH2):c.1112_1113dup (p.Glu372fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974807:C:A,KCNH2,VCV000853484,853484,NM_000238.4(KCNH2):c.211G>T (p.Gly71Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951814:CA:C,KCNH2,VCV000851169,851169,NM_000238.4(KCNH2):c.1578del (p.Ala527fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958467:G:GC,KCNH2,VCV000850821,850821,NM_000238.4(KCNH2):c.507dup (p.Leu170fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948492:TGAAGCCACCC:T,KCNH2,VCV000846538,846538,NM_000238.4(KCNH2):c.2634_2643del (p.Gly879fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958194:AGGCGTCG:A,KCNH2,VCV000835590,835590,NM_000238.4(KCNH2):c.774_780del (p.Asp259fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150957316:TG:T,KCNH2,VCV000818076,818076,NM_000238.4(KCNH2):c.1102del (p.His368fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947784:C:CTCCCCCCA,KCNH2,VCV000817961,817961,NM_000238.4(KCNH2):c.2779_2786dup (p.Glu929fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947343:TGGAG:T,KCNH2,VCV000817602,817602,NM_000238.4(KCNH2):c.3133_3136del (p.Leu1045fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952564:G:A,KCNH2,VCV000811073,811073,NM_000238.4(KCNH2):c.1418C>T (p.Thr473Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952423:A:G,KCNH2,VCV000695023,695023,NM_000238.4(KCNH2):c.1557+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974767:TGCGCGATCTGCGCGGCAGC:T,KCNH2,VCV000692260,692260,NM_000238.4(KCNH2):c.232_250del (p.Ala78fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948519:C:CG,KCNH2,VCV000692259,692259,NM_000238.4(KCNH2):c.2616dup (p.Gly873fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947377:G:GGGGC,KCNH2,VCV000692257,692257,NM_000238.4(KCNH2):c.3099_3102dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951082:TG:T,KCNH2,VCV000667408,667408,NM_000238.4(KCNH2):c.1983del (p.Ile662fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948446:T:GTGTCG,KCNH2,VCV000663923,663923,NM_000238.4(KCNH2):c.2690delinsCGACAC (p.Lys897fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974871:GC:TT,KCNH2,VCV000663471,663471,NM_000238.4(KCNH2):c.146_147delinsAA (p.Cys49Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947039:C:CA,KCNH2,VCV000660047,660047,NM_000238.4(KCNH2):c.3167dup (p.Ser1057fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150946975:AGGCGGGC:A,KCNH2,VCV000657779,657779,NM_000238.4(KCNH2):c.3225_3231del (p.Pro1076fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952602:GT:G,KCNH2,VCV000652241,652241,NM_000238.4(KCNH2):c.1379del (p.Asp460fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951738:A:T,KCNH2,VCV000648088,648088,NM_000238.4(KCNH2):c.1655T>A (p.Leu552Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974933:AC:A,KCNH2,VCV000645394,645394,NM_000238.4(KCNH2):c.84del (p.Lys28fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974767:T:TGCGCGATCTGCGCGGCA,KCNH2,VCV000641517,641517,NM_000238.4(KCNH2):c.234_250dup (p.Gln84fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950308:GC:G,KCNH2,VCV000640022,640022,NM_000238.4(KCNH2):c.2257del (p.Ala753fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947371:C:CG,KCNH2,VCV000637977,637977,NM_000238.4(KCNH2):c.3108dup (p.Asp1037fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952842:CA:C,KCNH2,VCV000632866,632866,NM_000238.4(KCNH2):c.1139del (p.Leu380fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951063:G:T,KCNH2,VCV000620172,620172,NM_000238.4(KCNH2):c.2003C>A (p.Ser668Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952634:G:A,KCNH2,VCV000620154,620154,NM_000238.4(KCNH2):c.1348C>T (p.Gln450Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951520:C:G,KCNH2,VCV000618184,618184,NM_000238.4(KCNH2):c.1873G>C (p.Val625Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947865:TG:T,KCNH2,VCV000598783,598783,NM_000238.4(KCNH2):c.2705del (p.Pro902fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958047:CGGCGCCCTCACCGGTGCT:C,KCNH2,VCV000582292,582292,NM_000238.4(KCNH2):c.910_916+11del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951638:C:G,KCNH2,VCV000581669,581669,NM_000238.4(KCNH2):c.1755G>C (p.Trp585Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150977836:ACT:A,KCNH2,VCV000579489,579489,NM_000238.4(KCNH2):c.76_76+1del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951702:A:T,KCNH2,VCV000572344,572344,NM_000238.4(KCNH2):c.1691T>A (p.Leu564Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947370:T:TCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGG,KCNH2,VCV000570715,570715,NM_000238.4(KCNH2):c.1129-831_3109dup,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951499:GAGAGACGTTG:CTTCA,KCNH2,VCV000570494,570494,NM_000238.4(KCNH2):c.1884_1894delinsTGAAG (p.Asn629_Pro632delinsGluAla),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947640:G:T,KCNH2,VCV000568003,568003,NM_000238.4(KCNH2):c.2931C>A (p.Cys977Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952848:CAG:C,KCNH2,VCV000565724,565724,NM_000238.4(KCNH2):c.1132_1133del (p.Leu378fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951545:G:C,KCNH2,VCV000560696,560696,NM_000238.4(KCNH2):c.1848C>G (p.Tyr616Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947391:GG:CGGGAGACCC,KCNH2,VCV000545950,545950,NM_000238.4(KCNH2):c.3088_3089delinsGGGTCTCCCG (p.Pro1030fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150959573:TG:T,KCNH2,VCV000526969,526969,NM_000238.4(KCNH2):c.470del (p.Pro157fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951704:C:T,KCNH2,VCV000526968,526968,NM_000238.4(KCNH2):c.1689G>A (p.Trp563Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947832:CGCCCG:C,KCNH2,VCV000526939,526939,NM_000238.4(KCNH2):c.2734_2738del (p.Arg912fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150977847:C:CA,KCNH2,VCV000526932,526932,NM_000238.4(KCNH2):c.66dup (p.Glu23Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958438:CGACGACTCCCGGGCCGTCAGCGCCA:C,KCNH2,VCV000526925,526925,NM_000238.4(KCNH2):c.512_536del (p.Leu171fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948478:C:CT,KCNH2,VCV000526908,526908,NM_000238.4(KCNH2):c.2657dup (p.Arg887fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958423:G:GCCGCCCGA,KCNH2,VCV000524038,524038,NM_000238.4(KCNH2):c.544_551dup (p.Ala185fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947372:G:GCCCCGGGGCCGCC,KCNH2,VCV000523953,523953,NM_000238.4(KCNH2):c.3095_3107dup (p.Asp1037fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150945390:CTG:C,KCNH2,VCV000523712,523712,NM_000238.4(KCNH2):c.3453_3454del (p.His1151fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958430:G:GACCGCACC,KCNH2,VCV000523697,523697,NM_000238.4(KCNH2):c.537_544dup (p.Ser182fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974926:A:T,KCNH2,VCV000520423,520423,NM_000238.4(KCNH2):c.92T>A (p.Ile31Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951772:GA:G,KCNH2,VCV000519551,519551,NM_000238.4(KCNH2):c.1620del (p.Arg541fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947014:G:A,KCNH2,VCV000519524,519524,NM_000238.4(KCNH2):c.3193C>T (p.Gln1065Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947798:CCCCCGGCCGG:C,KCNH2,VCV000519509,519509,NM_000238.4(KCNH2):c.2763_2772del (p.Arg922fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974856:G:C,KCNH2,VCV000519501,519501,NM_000238.4(KCNH2):c.162C>G (p.Tyr54Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950329:GC:G,KCNH2,VCV000519473,519473,NM_000238.4(KCNH2):c.2236del (p.Ala746fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952691:A:G,KCNH2,VCV000519399,519399,NM_000238.4(KCNH2):c.1291T>C (p.Phe431Leu),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948449:TCCGTGCG:T,KCNH2,VCV000519378,519378,NM_000238.4(KCNH2):c.2680_2686del (p.Arg894fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947386:G:GACCC,KCNH2,VCV000519348,519348,NM_000238.4(KCNH2):c.3090_3093dup (p.Arg1032fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951504:AC:A,KCNH2,VCV000519330,519330,NM_000238.4(KCNH2):c.1888del (p.Val630fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958163:C:CT,KCNH2,VCV000519329,519329,NM_000238.4(KCNH2):c.811_812insA (p.Arg271fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947377:GGGGCCGCCGACCC:G,KCNH2,VCV000519327,519327,NM_000238.4(KCNH2):c.3090_3102del (p.Arg1032fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958167:TCCG:ACT,KCNH2,VCV000519255,519255,NM_000238.4(KCNH2):c.805_808delinsAGT (p.Arg269fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958064:C:CTGGCG,KCNH2,VCV000519237,519237,NM_000238.4(KCNH2):c.906_910dup (p.Ser304fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948996:ACTTGCCAGGC:A,KCNH2,VCV000519234,519234,NM_000238.4(KCNH2):c.2442_2451del (p.Arg814fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150946876:C:T,KCNH2,VCV000519217,519217,NM_000238.4(KCNH2):c.3330+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974710:CC:AA,KCNH2,VCV000519204,519204,NM_000238.4(KCNH2):c.307_307+1delinsTT,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951537:AAGGTGAAGT:A,KCNH2,VCV000503778,503778,NM_000238.4(KCNH2):c.1847_1855del (p.Tyr616_Thr618del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974766:CTGCGCGATCTGCGCGGCAGCGCGGCGCTGCG:C,KCNH2,VCV000503735,503735,NM_000238.4(KCNH2):c.221_251del (p.Thr74fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950159:ACCCCATAC:A,KCNH2,VCV000503674,503674,NM_000238.4(KCNH2):c.2398+1_2398+8del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947373:CCCCGGGGCCGCCGA:C,KCNH2,VCV000503672,503672,NM_000238.4(KCNH2):c.3093_3106del (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947367:A:ACGTCGCC,KCNH2,VCV000503659,503659,NM_000238.4(KCNH2):c.3106_3112dup (p.Val1038fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947804:GC:G,KCNH2,VCV000495746,495746,NM_000238.4(KCNH2):c.2766del (p.Pro923fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951686:G:C,KCNH2,VCV000489342,489342,NM_000238.4(KCNH2):c.1707C>G (p.Tyr569Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974856:G:T,KCNH2,VCV000488895,488895,NM_000238.4(KCNH2):c.162C>A (p.Tyr54Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948510:C:A,KCNH2,VCV000488692,488692,NM_000238.4(KCNH2):c.2626G>T (p.Glu876Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150959583:C:T,KCNH2,VCV000456935,456935,NM_000238.4(KCNH2):c.461G>A (p.Trp154Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947373:C:CCCCGGGG,KCNH2,VCV000456921,456921,NM_000238.4(KCNH2):c.3100_3106dup (p.Gly1036fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947381:C:CCG,KCNH2,VCV000456919,456919,NM_000238.4(KCNH2):c.3097_3098dup (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947383:G:GCCGAC,KCNH2,VCV000456918,456918,NM_000238.4(KCNH2):c.3092_3096dup (p.Arg1033fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950347:C:CA,KCNH2,VCV000456904,456904,NM_000238.4(KCNH2):c.2218dup (p.Cys740fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950248:CCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGT:C,KCNH2,VCV000456903,456903,NM_000238.4(KCNH2):c.2180_2317del (p.Asp727_Ala772del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950421:CTG:TT,KCNH2,VCV000456902,456902,NM_000238.4(KCNH2):c.2146-3_2146-1delinsAA,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951004:G:A,KCNH2,VCV000456901,456901,NM_000238.4(KCNH2):c.2062C>T (p.Gln688Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952646:C:CA,KCNH2,VCV000456886,456886,NM_000238.4(KCNH2):c.1335dup (p.Gly446fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150957296:TGA:T,KCNH2,VCV000456876,456876,NM_000238.4(KCNH2):c.1121_1122del (p.Val374fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947005:G:A,KCNH2,VCV000446417,446417,NM_000238.4(KCNH2):c.3202C>T (p.Gln1068Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952424:C:G,KCNH2,VCV000439845,439845,NM_000238.4(KCNH2):c.1557+1G>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947389:C:CCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCA,KCNH2,VCV000431374,431374,NM_000238.4(KCNH2):c.2906_3089dup (p.Gly989_Ala990insIleProGlyAspGlyArgAlaArgGluAspArgAlaTrpGlnArgTrpCysValTyrProAlaHisProAlaLeuLeuSerGlyCysArgArgLeuLeuArgSerValGlnHisPheGlnLeuLeuGlyGlyGlnSerGlyProProValProGlyAlaProSerMetProArgProHisProGlnProProGlnHisProProLeuGlnProValGlySerProTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947631:GCTCTT:G,KCNH2,VCV000431036,431036,NM_000238.4(KCNH2):c.2935_2939del (p.Lys979fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948456:G:GCCTGC,KCNH2,VCV000430730,430730,NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951114:A:C,KCNH2,VCV000427945,427945,NM_000238.4(KCNH2):c.1952T>G (p.Met651Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951027:AC:A,KCNH2,VCV000427944,427944,NM_000238.4(KCNH2):c.2038del (p.Val680fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951096:C:A,KCNH2,VCV000427076,427076,NM_000238.4(KCNH2):c.1970G>T (p.Gly657Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150958306:TGCCA:G,KCNH2,VCV000426429,426429,NM_000238.4(KCNH2):c.665_669delinsC (p.Val222fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951473:G:C,KCNH2,VCV000423753,423753,NM_000238.4(KCNH2):c.1920C>G (p.Phe640Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950937:CCG:C,KCNH2,VCV000423696,423696,NM_000238.4(KCNH2):c.2127_2128del (p.Asn709fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947419:T:TG,KCNH2,VCV000423015,423015,NM_000238.4(KCNH2):c.3060dup (p.Ser1021fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947683:GG:T,KCNH2,VCV000421672,421672,NM_000238.4(KCNH2):c.2887_2888delinsA (p.Pro963fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950983:G:A,KCNH2,VCV000420923,420923,NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947367:ACGTCGCCCCGGGGC:A,KCNH2,VCV000420585,420585,NM_000238.4(KCNH2):c.3099_3112del (p.Pro1034fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150959706:A:ACCACATC,KCNH2,VCV000420260,420260,NM_000238.4(KCNH2):c.331_337dup (p.Val113fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951509:GC:G,KCNH2,VCV000419410,419410,NM_000238.4(KCNH2):c.1883del (p.Gly628fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150952468:GC:G,KCNH2,VCV000419379,419379,NM_000238.4(KCNH2):c.1513del (p.Ala505fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951667:G:A,KCNH2,VCV000419311,419311,NM_000238.4(KCNH2):c.1726C>T (p.Gln576Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150957370:GC:G,KCNH2,VCV000418919,418919,NM_000238.4(KCNH2):c.1048del (p.Ala350fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947618:T:TG,KCNH2,VCV000418815,418815,NM_000238.4(KCNH2):c.2952dup (p.Asn985fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948977:GC:G,KCNH2,VCV000418787,418787,NM_000238.4(KCNH2):c.2470del (p.Ala824fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150959587:TGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCA:T,KCNH2,VCV000418670,418670,NM_000238.4(KCNH2):c.395_456del (p.Val132fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974854:G:T,KCNH2,VCV000418597,418597,NM_000238.4(KCNH2):c.164C>A (p.Ser55Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947370:T:TCGCCCCGGGGC,KCNH2,VCV000405358,405358,NM_000238.4(KCNH2):c.3099_3109dup (p.Asp1037fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150959641:TC:T,KCNH2,VCV000405355,405355,NM_000238.4(KCNH2):c.402del (p.Lys135fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951065:G:GT,KCNH2,VCV000405345,405345,NM_000238.4(KCNH2):c.2000dup (p.Tyr667Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950200:A:ATC,KCNH2,VCV000405342,405342,NM_000238.4(KCNH2):c.2364_2365dup (p.Ile789fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951542:G:T,KCNH2,VCV000392690,392690,NM_000238.4(KCNH2):c.1851C>A (p.Phe617Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951464:G:T,KCNH2,VCV000392341,392341,NM_000238.4(KCNH2):c.1929C>A (p.Cys643Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150951678:C:G,KCNH2,VCV000391858,391858,NM_000238.4(KCNH2):c.1715G>C (p.Gly572Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150948439:C:A,KCNH2,VCV000387850,387850,NM_000238.4(KCNH2):c.2692+5G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150959738:T:C,KCNH2,VCV000379451,379451,NM_000238.4(KCNH2):c.308-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947453:G:C,KCNH2,VCV000379293,379293,NM_000238.4(KCNH2):c.3027C>G (p.Tyr1009Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947006:T:TA,KCNH2,VCV000372942,372942,NM_000238.4(KCNH2):c.3200dup (p.Gln1068fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150974897:C:G,KCNH2,VCV000372589,372589,NM_000238.4(KCNH2):c.121G>C (p.Val41Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947372:G:GCC,KCNH2,VCV000372571,372571,NM_000238.4(KCNH2):c.3106_3107dup (p.Asp1037fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150947380:GC:G,KCNH2,VCV000372378,372378,NM_000238.4(KCNH2):c.3099del (p.Arg1035fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:150950167:C:A,KCNH2,VCV000372377,372377,NM_000238.4(KCNH2):c.2398+1G>T,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-3:38557241:T:C,SCN5A,VCV004814196,4814196,NM_000335.5(SCN5A):c.4286A>G (p.Asp1429Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38556563:G:A,SCN5A,VCV004814157,4814157,NM_000335.5(SCN5A):c.4312C>T (p.Gln1438Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38555679:GGGGCTTCTT:G,SCN5A,VCV004814013,4814013,NM_000335.5(SCN5A):c.4507_4515del (p.Lys1503_Pro1505del),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38603729:C:A,SCN5A,VCV004757059,4757059,NM_000335.5(SCN5A):c.1873G>T (p.Glu625Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38551453:GC:G,SCN5A,VCV004733790,4733790,NM_000335.5(SCN5A):c.4915del (p.Ala1639fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38630345:TG:T,SCN5A,VCV004731428,4731428,NM_000335.5(SCN5A):c.357del (p.Ile120fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38630309:A:G,SCN5A,VCV004730817,4730817,NM_000335.5(SCN5A):c.392+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581324:GT:G,SCN5A,VCV004727300,4727300,NM_000335.5(SCN5A):c.2834del (p.Asp945fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38587440:GA:G,SCN5A,VCV004723344,4723344,NM_000335.5(SCN5A):c.2395del (p.Ser799fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38603889:AC:A,SCN5A,VCV004722126,4722126,NM_000335.5(SCN5A):c.1712del (p.Ser571fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38550953:G:A,SCN5A,VCV004721301,4721301,NM_000335.5(SCN5A):c.5416C>T (p.Gln1806Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38613801:GAC:G,SCN5A,VCV004720439,4720439,NM_000335.5(SCN5A):c.643_644del (p.Val215fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581225:C:T,SCN5A,VCV004717480,4717480,NM_000335.5(SCN5A):c.2934G>A (p.Trp978Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38557283:GC:G,SCN5A,VCV004716661,4716661,NM_001099405.2(SCN5A):c.4246-706del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38597930:C:T,SCN5A,VCV004716468,4716468,NM_000335.5(SCN5A):c.2061G>A (p.Trp687Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38557236:TG:T,SCN5A,VCV004714862,4714862,NM_000335.5(SCN5A):c.4290del (p.Arg1431fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38576755:GC:G,SCN5A,VCV004712144,4712144,NM_000335.5(SCN5A):c.3413del (p.Gly1138fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38556493:A:T,SCN5A,VCV004681217,4681217,NM_000335.5(SCN5A):c.4382T>A (p.Leu1461Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38562538:C:G,SCN5A,VCV004614942,4614942,NM_000335.5(SCN5A):c.3838-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38608150:C:G,SCN5A,VCV004614940,4614940,NM_000335.5(SCN5A):c.998+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38599038:C:A,SCN5A,VCV004614936,4614936,NM_000335.5(SCN5A):c.1903G>T (p.Glu635Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38613756:T:TA,SCN5A,VCV004537605,4537605,NM_000335.5(SCN5A):c.689dup (p.Ser231fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38556576:A:C,SCN5A,VCV004536358,4536358,NM_000335.5(SCN5A):c.4299T>G (p.Tyr1433Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38606140:C:A,SCN5A,VCV004531893,4531893,NM_000335.5(SCN5A):c.1149G>T (p.Arg383Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38597749:TCTC:T,SCN5A,VCV004530664,4530664,NM_000335.5(SCN5A):c.2236GAG[1] (p.Glu747del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38585841:C:T,SCN5A,VCV004526988,4526988,NM_000335.5(SCN5A):c.2637G>A (p.Trp879Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38620842:C:A,SCN5A,VCV004160653,4160653,NM_000335.5(SCN5A):c.611+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38609896:CTG:C,SCN5A,VCV004160651,4160651,NM_000335.5(SCN5A):c.770_771del (p.Thr257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38585897:A:AG,SCN5A,VCV004084973,4084973,NM_000335.5(SCN5A):c.2580dup (p.Phe861fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38550472:G:A,SCN5A,VCV004082128,4082128,NM_000335.5(SCN5A):c.5897C>T (p.Ser1966Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38606687:C:G,SCN5A,VCV004071999,4071999,NM_000335.5(SCN5A):c.1122G>C (p.Trp374Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38560422:C:A,SCN5A,VCV003898691,3898691,NM_000335.5(SCN5A):c.3967G>T (p.Val1323Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38551118:AG:A,SCN5A,VCV003895188,3895188,NM_000335.5(SCN5A):c.5250del (p.Phe1751fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38550902:GC:G,SCN5A,VCV003894898,3894898,NM_000335.5(SCN5A):c.5466del (p.Glu1822fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38606698:G:A,SCN5A,VCV003894008,3894008,NM_000335.5(SCN5A):c.1111C>T (p.Gln371Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38556500:A:AG,SCN5A,VCV003893711,3893711,NM_000335.5(SCN5A):c.4374dup (p.Phe1459fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38620885:CG:C,SCN5A,VCV003793221,3793221,NM_000335.5(SCN5A):c.568del (p.Arg190fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38576677:CT:A,SCN5A,VCV003793218,3793218,NM_000335.5(SCN5A):c.3491_3492delinsT (p.Glu1164fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38606773:C:A,SCN5A,VCV003778738,3778738,NM_000335.5(SCN5A):c.1036G>T (p.Glu346Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38585783:A:ACTCTC,SCN5A,VCV003773853,3773853,NM_000335.5(SCN5A):c.2690_2694dup (p.Trp899fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38560424:AC:A,SCN5A,VCV003772281,3772281,NM_000335.5(SCN5A):c.3964del (p.Val1322fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581355:AG:A,SCN5A,VCV003766453,3766453,NM_000335.5(SCN5A):c.2803del (p.Leu935fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38604795:T:TGA,SCN5A,VCV003730868,3730868,NM_000335.5(SCN5A):c.1450_1451dup (p.Gly485fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38580981:C:A,SCN5A,VCV003729291,3729291,NM_000335.5(SCN5A):c.3178G>T (p.Glu1060Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38555654:A:G,SCN5A,VCV003727847,3727847,NM_000335.5(SCN5A):c.4539+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38551375:A:AG,SCN5A,VCV003723601,3723601,NM_000335.5(SCN5A):c.4993dup (p.Leu1665fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38613831:G:C,SCN5A,VCV003723452,3723452,NM_000335.5(SCN5A):c.615C>G (p.Tyr205Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38620958:C:CG,SCN5A,VCV003722844,3722844,NM_000335.5(SCN5A):c.495dup (p.Ala166fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38562511:G:GT,SCN5A,VCV003722003,3722003,NM_000335.5(SCN5A):c.3863dup (p.Asn1288fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38604029:TG:T,SCN5A,VCV003721680,3721680,NM_000335.5(SCN5A):c.1572del (p.Ser525fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38556558:C:T,SCN5A,VCV003720482,3720482,NM_000335.5(SCN5A):c.4317G>A (p.Trp1439Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38579495:G:A,SCN5A,VCV003699241,3699241,NM_001099404.2(SCN5A):c.3229C>T (p.Gln1077Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38622468:CAT:C,SCN5A,VCV003668098,3668098,NM_000335.5(SCN5A):c.412_413del (p.Met138fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38551233:C:T,SCN5A,VCV003663041,3663041,NM_000335.5(SCN5A):c.5136G>A (p.Trp1712Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38562461:CG:C,SCN5A,VCV003662552,3662552,NM_000335.5(SCN5A):c.3913del (p.Arg1305fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38576745:CT:C,SCN5A,VCV003661184,3661184,NM_000335.5(SCN5A):c.3423del (p.Asp1142fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38550653:CCATGGCCGACACCTCTTCGTGCTTGCGCCGGAGTGTGGTGGTGATGGGCTCGTAGGAGATCTTGGATGGGTTGGCTGCCATGAACTTCTCCTCCATCTGGATCTTCAGGGCGTCCATCTCCCCAGACTCCCCCAGGACCCTTTTGGTGAAGGCAAAGAGAATGTCCATGCAATGGATGCGGTCCCCACTCACCATGGGCAGGTCCATGTTGATGAGGCTTATCTGGTTGGGCTTGGCGATACGGAGTGGCTCAGACAGGGCATCGGCAAAGTCAGACAGGACCGAATACTCAATAAACTGAGTGGCCTCTGGGTCAAATTTCTCCCAGATCTCATAGAACATATCGAAGTCGTCCTCACTCAGGGGCTCGGTGCTCTCCTCCGTGGCCACGCTGAAGTTCTCCAGGATGATGGCAATGTACATGTTGACCACGATGAGGAAGGAGATGATGATGTAGGTGGTGAAGAAGAGGATGCCCACGGCTGGGCTCCCGCAGTCCCCCCGAGAGCCATTGCTGTTGGGCAGAGTGGGGTCGCAGTAGGGCGGCCCAGTGTTGAGGATGGGG:C,SCN5A,VCV003660495,3660495,NM_000335.5(SCN5A):c.5151_5715del (p.Ser1717fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38550980:A:AT,SCN5A,VCV003653975,3653975,NM_000335.5(SCN5A):c.5388_5389insA (p.Trp1797fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38633076:C:A,SCN5A,VCV003649069,3649069,NM_000335.5(SCN5A):c.232G>T (p.Glu78Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38550851:G:GC,SCN5A,VCV003645763,3645763,NM_000335.5(SCN5A):c.5517dup (p.Pro1840fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38587574:C:G,SCN5A,VCV003644710,3644710,NM_000335.5(SCN5A):c.2263-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38551094:A:AGGAGATGATGATGTAGGTGGTGAAGAAGAGGAGAT,SCN5A,VCV003642736,3642736,NM_000335.5(SCN5A):c.5274_5275insATCTCCTCTTCTTCACCACCTACATCATCATCTCC (p.Phe1759fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38633069:AG:A,SCN5A,VCV003639026,3639026,NM_000335.5(SCN5A):c.238del (p.Leu80fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38587399:C:G,SCN5A,VCV003633347,3633347,NM_000335.5(SCN5A):c.2436+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38556531:A:C,SCN5A,VCV003600631,3600631,NM_000335.5(SCN5A):c.4344T>G (p.Tyr1448Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38554311:A:C,SCN5A,VCV003544406,3544406,NM_000335.5(SCN5A):c.4778T>G (p.Phe1593Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38604025:CG:C,SCN5A,VCV003438263,3438263,NM_000335.5(SCN5A):c.1576del (p.Arg526fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38587400:C:CAGGCG,SCN5A,VCV003385944,3385944,NM_000335.5(SCN5A):c.2431_2435dup (p.Leu813fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38560288:CTCTG:C,SCN5A,VCV003385918,3385918,NM_000335.5(SCN5A):c.4097_4100del (p.Thr1366fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38566505:A:C,SCN5A,VCV003383167,3383167,NM_000335.5(SCN5A):c.3741T>G (p.Tyr1247Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581086:C:A,SCN5A,VCV003381870,3381870,NM_000335.5(SCN5A):c.3073G>T (p.Glu1025Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38606082:A:G,SCN5A,VCV003376929,3376929,NM_000335.5(SCN5A):c.1207T>C (p.Tyr403His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38603774:CT:C,SCN5A,VCV003367173,3367173,NM_000335.5(SCN5A):c.1827del (p.Glu610fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38598975:GC:G,SCN5A,VCV003345326,3345326,NM_000335.5(SCN5A):c.1965del (p.Glu655fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38598917:C:A,SCN5A,VCV003337556,3337556,NM_000335.5(SCN5A):c.2023+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38566583:C:G,SCN5A,VCV003337555,3337555,NM_000335.5(SCN5A):c.3664-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38557236:T:A,SCN5A,VCV003337551,3337551,NM_000335.5(SCN5A):c.4291A>T (p.Arg1431Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38606784:A:AG,SCN5A,VCV003316598,3316598,NM_000335.5(SCN5A):c.1024dup (p.Leu342fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38576776:TG:T,SCN5A,VCV003316597,3316597,NM_000335.5(SCN5A):c.3392del (p.Pro1131fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38585883:G:C,SCN5A,VCV003316593,3316593,NM_000335.5(SCN5A):c.2595C>G (p.Tyr865Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38620967:TG:T,SCN5A,VCV003252620,3252620,NM_000335.5(SCN5A):c.486del (p.Glu161_Tyr162insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38587409:GGA:G,SCN5A,VCV003252218,3252218,NM_000335.5(SCN5A):c.2425_2426del (p.Ser809fs),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38575395:CCTTCCCTGGG:C,SCN5A,VCV003251141,3251141,NM_000335.5(SCN5A):c.3555_3564del (p.Pro1186fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38613752:CTG:C,SCN5A,VCV003251122,3251122,NM_000335.5(SCN5A):c.692_693del (p.Ser231fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38598963:G:A,SCN5A,VCV003248566,3248566,NM_000335.5(SCN5A):c.1978C>T (p.Gln660Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38604050:TC:T,SCN5A,VCV003238947,3238947,NM_000335.5(SCN5A):c.1551del (p.Thr518fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38585930:CGAT:C,SCN5A,VCV003236392,3236392,NM_000335.5(SCN5A):c.2542ATC[1] (p.Ile849del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38599037:T:TC,SCN5A,VCV003229479,3229479,NM_000335.5(SCN5A):c.1903dup (p.Glu635fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581204:CA:C,SCN5A,VCV003076028,3076028,NM_000335.5(SCN5A):c.2954del (p.Leu985fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581186:CTT:C,SCN5A,VCV003075937,3075937,NM_000335.5(SCN5A):c.2971_2972del (p.Lys991fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38550979:C:T,SCN5A,VCV003075757,3075757,NM_000335.5(SCN5A):c.5390G>A (p.Trp1797Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38556481:AT:A,SCN5A,VCV003075755,3075755,NM_000335.5(SCN5A):c.4393del (p.Ile1465fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38580951:C:A,SCN5A,VCV003075752,3075752,NM_000335.5(SCN5A):c.3208G>T (p.Glu1070Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38579447:TG:T,SCN5A,VCV003074416,3074416,NM_000335.5(SCN5A):c.3273del (p.Arg1092fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38597824:T:TG,SCN5A,VCV003073663,3073663,NM_000335.5(SCN5A):c.2166dup (p.Ile723fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38603902:AG:A,SCN5A,VCV003073053,3073053,NM_000335.5(SCN5A):c.1699del (p.Leu567fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38554469:AT:A,SCN5A,VCV003071701,3071701,NM_000335.5(SCN5A):c.4619del (p.Asn1540fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38560421:A:C,SCN5A,VCV003067128,3067128,NM_000335.5(SCN5A):c.3968T>G (p.Val1323Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38556461:A:T,SCN5A,VCV003062283,3062283,NM_000335.5(SCN5A):c.4414T>A (p.Phe1472Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38603710:A:C,SCN5A,VCV003027437,3027437,NM_000335.5(SCN5A):c.1890+2T>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38606054:AC:A,SCN5A,VCV003024479,3024479,NM_000335.5(SCN5A):c.1234del (p.Val412fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581031:TC:T,SCN5A,VCV003001404,3001404,NM_000335.5(SCN5A):c.3127del (p.Glu1043fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38606764:CG:C,SCN5A,VCV002910170,2910170,NM_000335.5(SCN5A):c.1044del (p.Asp349fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38630309:A:C,SCN5A,VCV002862415,2862415,NM_000335.5(SCN5A):c.392+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581134:A:AG,SCN5A,VCV002861983,2861983,NM_000335.5(SCN5A):c.3024dup (p.Tyr1009fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38579367:C:T,SCN5A,VCV002850091,2850091,NM_000335.5(SCN5A):c.3354G>A (p.Trp1118Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581152:TG:T,SCN5A,VCV002846167,2846167,NM_000335.5(SCN5A):c.3006del (p.Ser1003fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38550951:C:CT,SCN5A,VCV002834047,2834047,NM_000335.5(SCN5A):c.5417dup (p.Phe1807fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38586042:C:G,SCN5A,VCV002831276,2831276,NM_000335.5(SCN5A):c.2437-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38622423:AG:A,SCN5A,VCV002829409,2829409,NM_000335.5(SCN5A):c.458del (p.Pro153fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38551299:CAT:C,SCN5A,VCV002820677,2820677,NM_000335.5(SCN5A):c.5068_5069del (p.Met1690fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38566552:T:A,SCN5A,VCV002818735,2818735,NM_000335.5(SCN5A):c.3694A>T (p.Lys1232Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38555657:A:AG,SCN5A,VCV002817837,2817837,NM_000335.5(SCN5A):c.4537dup (p.Leu1513fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38587499:CT:C,SCN5A,VCV002798618,2798618,NM_000335.5(SCN5A):c.2336del (p.Gln779fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38604785:C:A,SCN5A,VCV002774482,2774482,NM_000335.5(SCN5A):c.1462G>T (p.Glu488Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38604761:TGGGG:CAGA,SCN5A,VCV002774480,2774480,NM_000335.5(SCN5A):c.1482_1486delinsTCTG (p.Pro495fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581002:C:A,SCN5A,VCV002774462,2774462,NM_000335.5(SCN5A):c.3157G>T (p.Glu1053Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38576660:C:A,SCN5A,VCV002774456,2774456,NM_000335.5(SCN5A):c.3508+1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38556549:GT:G,SCN5A,VCV002774447,2774447,NM_000335.5(SCN5A):c.4325del (p.Asn1442fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581271:AG:A,SCN5A,VCV002767841,2767841,NM_000335.5(SCN5A):c.2887del (p.Leu963fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38622407:AC:A,SCN5A,VCV002767035,2767035,NM_000335.5(SCN5A):c.474del (p.Lys158fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38585881:G:T,SCN5A,VCV002764562,2764562,NM_000335.5(SCN5A):c.2597C>A (p.Ser866Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38576660:C:G,SCN5A,VCV002764009,2764009,NM_000335.5(SCN5A):c.3508+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38606062:CAG:C,SCN5A,VCV002754673,2754673,NM_000335.5(SCN5A):c.1225_1226del (p.Leu409fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38554540:G:A,SCN5A,VCV002750658,2750658,NM_000335.5(SCN5A):c.4549C>T (p.Gln1517Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38576675:TC:T,SCN5A,VCV002749678,2749678,NM_000335.5(SCN5A):c.3493del (p.Asp1165fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38566430:C:T,SCN5A,VCV002739542,2739542,NM_000335.5(SCN5A):c.3816G>A (p.Trp1272Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581041:CG:C,SCN5A,VCV002733575,2733575,NM_000335.5(SCN5A):c.3117del (p.Asp1041fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38609952:A:G,SCN5A,VCV002728351,2728351,NM_000335.5(SCN5A):c.716T>C (p.Ile239Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38606750:G:GGTGTAGCC,SCN5A,VCV002719420,2719420,NM_000335.5(SCN5A):c.1051_1058dup (p.Ser354fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38551073:AC:A,SCN5A,VCV002713386,2713386,NM_000335.5(SCN5A):c.5295del (p.Met1765fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38557256:A:AT,SCN5A,VCV002708294,2708294,NM_000335.5(SCN5A):c.4270dup (p.Met1424fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38566436:C:T,SCN5A,VCV002705691,2705691,NM_000335.5(SCN5A):c.3810G>A (p.Trp1270Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38599043:GGCGT:G,SCN5A,VCV002587163,2587163,NM_000335.5(SCN5A):c.1894_1897del (p.Thr632fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38585801:G:T,SCN5A,VCV002582527,2582527,NM_000335.5(SCN5A):c.2677C>A (p.Arg893Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38620950:G:T,SCN5A,VCV002574114,2574114,NM_000335.5(SCN5A):c.504C>A (p.Tyr168Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38576782:C:G,SCN5A,VCV002574113,2574113,NM_000335.5(SCN5A):c.3388-1G>C,Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38576710:GA:G,SCN5A,VCV002567176,2567176,NM_000335.5(SCN5A):c.3458del (p.Ile1153fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38597909:G:T,SCN5A,VCV002567171,2567171,NM_000335.5(SCN5A):c.2082C>A (p.Tyr694Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38560146:C:A,SCN5A,VCV002567167,2567167,NM_000335.5(SCN5A):c.4242+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38560208:C:T,SCN5A,VCV002506126,2506126,NM_000335.5(SCN5A):c.4181G>A (p.Trp1394Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38620925:G:GA,SCN5A,VCV002505150,2505150,NM_000335.5(SCN5A):c.528dup (p.Leu177fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38585891:T:A,SCN5A,VCV002498925,2498925,NM_000335.5(SCN5A):c.2587A>T (p.Lys863Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38609828:G:T,SCN5A,VCV002444515,2444515,NM_000335.5(SCN5A):c.840C>A (p.Cys280Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38613772:C:G,SCN5A,VCV002203341,2203341,NM_000335.5(SCN5A):c.674G>C (p.Arg225Pro),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38604830:C:A,SCN5A,VCV002203340,2203340,NM_000335.5(SCN5A):c.1417G>T (p.Glu473Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38585996:G:A,SCN5A,VCV002203339,2203339,NM_000335.5(SCN5A):c.2482C>T (p.Leu828Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38585936:TG:T,SCN5A,VCV002203338,2203338,NM_000335.5(SCN5A):c.2541del (p.Ile848fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581358:AAG:A,SCN5A,VCV002203337,2203337,NM_000335.5(SCN5A):c.2799_2800del (p.Phe934fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38554319:C:T,SCN5A,VCV002203335,2203335,NM_000335.5(SCN5A):c.4770G>A (p.Trp1590Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38608215:C:T,SCN5A,VCV002126186,2126186,NM_000335.5(SCN5A):c.935-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38551089:GAGGA:G,SCN5A,VCV002124520,2124520,NM_000335.5(SCN5A):c.5276_5279del (p.Phe1759fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38556446:T:A,SCN5A,VCV002114785,2114785,NM_000335.5(SCN5A):c.4429A>T (p.Lys1477Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38603949:CG:C,SCN5A,VCV002113775,2113775,NM_000335.5(SCN5A):c.1652del (p.Ala551fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38562483:T:TG,SCN5A,VCV002107269,2107269,NM_000335.5(SCN5A):c.3891dup (p.Ile1298fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38598994:A:T,SCN5A,VCV002107170,2107170,NM_000335.5(SCN5A):c.1947T>A (p.Cys649Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38551532:TC:T,SCN5A,VCV002106626,2106626,NM_000335.5(SCN5A):c.4836del (p.Lys1613fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38575375:CT:C,SCN5A,VCV002100770,2100770,NM_000335.5(SCN5A):c.3584del (p.Lys1195fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38551234:C:T,SCN5A,VCV002094285,2094285,NM_000335.5(SCN5A):c.5135G>A (p.Trp1712Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38562539:T:A,SCN5A,VCV002088946,2088946,NM_000335.5(SCN5A):c.3838-2A>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38587511:G:C,SCN5A,VCV002069900,2069900,NM_000335.5(SCN5A):c.2325C>G (p.Tyr775Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38608216:T:C,SCN5A,VCV002057896,2057896,NM_000335.5(SCN5A):c.935-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38606042:TA:T,SCN5A,VCV002039747,2039747,NM_000335.5(SCN5A):c.1246del (p.Tyr416fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38620857:AC:A,SCN5A,VCV002036709,2036709,NM_000335.5(SCN5A):c.596del (p.Ser199fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38605976:ATGGCCTCC:A,SCN5A,VCV002031437,2031437,NM_000335.5(SCN5A):c.1305_1312del (p.Gln435fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38551074:C:G,SCN5A,VCV002027600,2027600,NM_000335.5(SCN5A):c.5295G>C (p.Met1765Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38633101:GC:G,SCN5A,VCV002027105,2027105,NM_000335.5(SCN5A):c.206del (p.Gly69fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38562414:C:A,SCN5A,VCV002026498,2026498,NM_000335.5(SCN5A):c.3960+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38585766:C:T,SCN5A,VCV002016715,2016715,NM_000335.5(SCN5A):c.2712G>A (p.Trp904Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38555656:C:CA,SCN5A,VCV002016359,2016359,NM_000335.5(SCN5A):c.4538dup (p.Asn1514fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38630430:CTGGGGACA:C,SCN5A,VCV002011754,2011754,NM_000335.5(SCN5A):c.274-9_274-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38580930:C:G,SCN5A,VCV001937049,1937049,NM_000335.5(SCN5A):c.3228+1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38633203:G:GC,SCN5A,VCV001803812,1803812,NM_000335.5(SCN5A):c.104dup (p.Ser36fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581161:G:A,SCN5A,VCV001798592,1798592,NM_000335.5(SCN5A):c.2998C>T (p.Gln1000Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581372:CT:C,SCN5A,VCV001795999,1795999,NM_000335.5(SCN5A):c.2788-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38585957:TC:T,SCN5A,VCV001792542,1792542,NM_000335.5(SCN5A):c.2520del (p.Asn841fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38597737:C:G,SCN5A,VCV001788496,1788496,NM_000335.5(SCN5A):c.2254G>C (p.Gly752Arg),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38603923:G:C,SCN5A,VCV001777850,1777850,NM_000335.5(SCN5A):c.1679C>G (p.Ser560Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38604785:C:CCT,SCN5A,VCV001773144,1773144,NM_000335.5(SCN5A):c.1460_1461dup (p.Glu488fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38633214:G:A,SCN5A,VCV001767167,1767167,NM_000335.5(SCN5A):c.94C>T (p.Gln32Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38606058:CG:C,SCN5A,VCV001755450,1755450,NM_000335.5(SCN5A):c.1230del (p.Val411fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38633267:CG:C,SCN5A,VCV001737836,1737836,NM_000335.5(SCN5A):c.40del (p.Arg14fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38566552:TC:T,SCN5A,VCV001733997,1733997,NM_000335.5(SCN5A):c.3693del (p.Lys1232fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38579379:C:T,SCN5A,VCV001730458,1730458,NM_000335.5(SCN5A):c.3342G>A (p.Trp1114Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38579440:C:T,SCN5A,VCV001729777,1729777,NM_000335.5(SCN5A):c.3281G>A (p.Trp1094Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38633133:G:A,SCN5A,VCV001691761,1691761,NM_000335.5(SCN5A):c.175C>T (p.Gln59Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38575310:C:A,SCN5A,VCV001691220,1691220,NM_000335.5(SCN5A):c.3650G>T (p.Ser1217Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581062:G:A,SCN5A,VCV001678156,1678156,NM_000335.5(SCN5A):c.3097C>T (p.Gln1033Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38562426:C:A,SCN5A,VCV001678123,1678123,NM_000335.5(SCN5A):c.3949G>T (p.Glu1317Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38585800:C:A,SCN5A,VCV001527869,1527869,NM_000335.5(SCN5A):c.2678G>T (p.Arg893Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38606150:T:C,SCN5A,VCV001521971,1521971,NM_000335.5(SCN5A):c.1141-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38575295:A:G,SCN5A,VCV001510225,1510225,NM_000335.5(SCN5A):c.3663+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38576782:C:T,SCN5A,VCV001502792,1502792,NM_000335.5(SCN5A):c.3388-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38606667:A:C,SCN5A,VCV001502060,1502060,NM_000335.5(SCN5A):c.1140+2T>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38633040:G:A,SCN5A,VCV001460043,1460043,NM_000335.5(SCN5A):c.268C>T (p.Gln90Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38580984:G:A,SCN5A,VCV001458577,1458577,NM_000335.5(SCN5A):c.3175C>T (p.Gln1059Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38575387:C:T,SCN5A,VCV001458575,1458575,NM_000335.5(SCN5A):c.3573G>A (p.Trp1191Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38622396:TCACTCGACATA:T,SCN5A,VCV001455926,1455926,NM_000335.5(SCN5A):c.475_482+3del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581132:G:T,SCN5A,VCV001455755,1455755,NM_000335.5(SCN5A):c.3027C>A (p.Tyr1009Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38604046:GA:G,SCN5A,VCV001455694,1455694,NM_000335.5(SCN5A):c.1555del (p.Ser519fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38597900:C:T,SCN5A,VCV001454071,1454071,NM_000335.5(SCN5A):c.2091G>A (p.Trp697Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38550922:AAGTC:A,SCN5A,VCV001452285,1452285,NM_000335.5(SCN5A):c.5443_5446del (p.Asp1815fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38556501:GA:G,SCN5A,VCV001451878,1451878,NM_000335.5(SCN5A):c.4373del (p.Phe1458fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38555697:GCTT:G,SCN5A,VCV001449654,1449654,NM_000335.5(SCN5A):c.4492AAG[1] (p.Lys1499del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38556451:TGTTG:T,SCN5A,VCV001434817,1434817,NM_000335.5(SCN5A):c.4420_4423del (p.Gln1474fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38633091:G:A,SCN5A,VCV001408176,1408176,NM_000335.5(SCN5A):c.217C>T (p.Gln73Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38604794:CT:C,SCN5A,VCV001406093,1406093,NM_000335.5(SCN5A):c.1452del (p.Gly485fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581116:CTG:C,SCN5A,VCV001392890,1392890,NM_000335.5(SCN5A):c.3041_3042del (p.Pro1014fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38585944:A:AC,SCN5A,VCV001386100,1386100,NM_000335.5(SCN5A):c.2533dup (p.Val845fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38620876:C:T,SCN5A,VCV001374462,1374462,NM_000335.5(SCN5A):c.578G>A (p.Trp193Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38604012:GA:G,SCN5A,VCV001361908,1361908,NM_000335.5(SCN5A):c.1589del (p.Phe530fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38606811:C:T,SCN5A,VCV001348900,1348900,NM_000335.5(SCN5A):c.999-1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38613742:C:G,SCN5A,VCV001345786,1345786,NM_000335.5(SCN5A):c.703+1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38554274:C:T,SCN5A,VCV001326912,1326912,NM_000335.5(SCN5A):c.4810+5G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38608217:G:C,SCN5A,VCV001326908,1326908,NM_000335.5(SCN5A):c.935-3C>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38566425:T:C,SCN5A,VCV001326907,1326907,NM_000335.5(SCN5A):c.3821A>G (p.Asp1274Gly),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38556561:C:CT,SCN5A,VCV001299249,1299249,NM_000335.5(SCN5A):c.4313dup (p.Trp1439fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38587515:TA:T,SCN5A,VCV001285130,1285130,NM_000335.5(SCN5A):c.2320del (p.Tyr774fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38551459:C:A,SCN5A,VCV001188516,1188516,NM_000335.5(SCN5A):c.4910G>T (p.Arg1637Leu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38597761:C:A,SCN5A,VCV001187556,1187556,NM_000335.5(SCN5A):c.2230G>T (p.Glu744Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38566483:GC:G,SCN5A,VCV001185878,1185878,NM_000335.5(SCN5A):c.3762del (p.Leu1255fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38609855:G:GAGCT,SCN5A,VCV001184975,1184975,NM_000335.5(SCN5A):c.809_812dup (p.Phe272fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581004:GC:G,SCN5A,VCV001076640,1076640,NM_000335.5(SCN5A):c.3154del (p.Ala1052fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38576775:C:A,SCN5A,VCV001076635,1076635,NM_000335.5(SCN5A):c.3394G>T (p.Glu1132Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38566487:CA:C,SCN5A,VCV001076515,1076515,NM_000335.5(SCN5A):c.3758del (p.Met1253fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38609766:CA:C,SCN5A,VCV001076513,1076513,NM_000335.5(SCN5A):c.901del (p.Trp301fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38551532:T:A,SCN5A,VCV001075437,1075437,NM_000335.5(SCN5A):c.4837A>T (p.Lys1613Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38560303:GC:G,SCN5A,VCV001073809,1073809,NM_000335.5(SCN5A):c.4085del (p.Cys1362fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38556554:A:AT,SCN5A,VCV001073629,1073629,NM_000335.5(SCN5A):c.4320dup (p.Tyr1441fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38585860:G:C,SCN5A,VCV001072446,1072446,NM_000335.5(SCN5A):c.2618C>G (p.Ser873Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38630368:T:TA,SCN5A,VCV001071777,1071777,NM_000335.5(SCN5A):c.334dup (p.Tyr112fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581107:T:A,SCN5A,VCV001069115,1069115,NM_000335.5(SCN5A):c.3052A>T (p.Lys1018Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38557230:C:A,SCN5A,VCV001068181,1068181,NM_000335.5(SCN5A):c.4296+1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38597968:C:T,SCN5A,VCV001067586,1067586,NM_000335.5(SCN5A):c.2024-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38560428:C:A,SCN5A,VCV001066010,1066010,NM_000335.5(SCN5A):c.3961G>T (p.Val1321Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38557232:CCCCTGGAGTCCACAGCTGCATACATAATGT:C,SCN5A,VCV001012143,1012143,NM_000335.5(SCN5A):c.4265_4294del (p.Asp1422_Arg1431del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38633253:C:A,SCN5A,VCV000988404,988404,NM_000335.5(SCN5A):c.55G>T (p.Glu19Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38554550:C:A,SCN5A,VCV000987436,987436,NM_000335.5(SCN5A):c.4540-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38613835:C:T,SCN5A,VCV000984516,984516,NM_000335.5(SCN5A):c.612-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38550925:TCAGA:T,SCN5A,VCV000984492,984492,NM_000335.5(SCN5A):c.5440_5443del (p.Ser1814fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38585689:A:T,SCN5A,VCV000979203,979203,NM_000335.5(SCN5A):c.2787+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38587500:TG:T,SCN5A,VCV000979075,979075,NM_000335.5(SCN5A):c.2335del (p.Gln779fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38585996:G:C,SCN5A,VCV000978725,978725,NM_000335.5(SCN5A):c.2482C>G (p.Leu828Val),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38606091:C:A,SCN5A,VCV000972696,972696,NM_000335.5(SCN5A):c.1198G>T (p.Gly400Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38598978:C:A,SCN5A,VCV000972691,972691,NM_000335.5(SCN5A):c.1963G>T (p.Glu655Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38585901:CT:C,SCN5A,VCV000970218,970218,NM_000335.5(SCN5A):c.2576del (p.Gln859fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581298:CT:C,SCN5A,VCV000961103,961103,NM_000335.5(SCN5A):c.2860del (p.Arg954fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38633176:CT:C,SCN5A,VCV000956404,956404,NM_000335.5(SCN5A):c.131del (p.Glu44fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38560264:G:GGT,SCN5A,VCV000952177,952177,NM_000335.5(SCN5A):c.4123_4124dup (p.Ile1376fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581117:T:TGGGGGTGGCGGGGAGTA,SCN5A,VCV000944678,944678,NM_000335.5(SCN5A):c.3025_3041dup (p.Glu1015fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38620865:C:G,SCN5A,VCV000942054,942054,NM_000335.5(SCN5A):c.589G>C (p.Asp197His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581343:A:G,SCN5A,VCV000940929,940929,NM_000335.5(SCN5A):c.2816T>C (p.Leu939Pro),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38613743:CT:C,SCN5A,VCV000937538,937538,NM_000335.5(SCN5A):c.702del (p.Gly235_Leu236insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38606062:C:CTATG,SCN5A,VCV000936474,936474,NM_000335.5(SCN5A):c.1226_1227insCATA (p.Ala410fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38633118:GC:G,SCN5A,VCV000928434,928434,NM_000335.5(SCN5A):c.189del (p.Lys63fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38551050:GT:G,SCN5A,VCV000927104,927104,NM_000335.5(SCN5A):c.5318del (p.Asn1773fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38562413:A:ACCCTCATG,SCN5A,VCV000927012,927012,NM_000335.5(SCN5A):c.3954_3960+1dup,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38562476:GA:G,SCN5A,VCV000917995,917995,NM_000335.5(SCN5A):c.3898del (p.Ser1300fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38585735:AT:A,SCN5A,VCV000863801,863801,NM_000335.5(SCN5A):c.2742del (p.Leu914fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38562529:CAG:C,SCN5A,VCV000858385,858385,NM_000335.5(SCN5A):c.3844_3845del (p.Leu1282fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38550877:TG:T,SCN5A,VCV000856890,856890,NM_000335.5(SCN5A):c.5491del (p.Gln1831fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38550990:GA:G,SCN5A,VCV000853346,853346,NM_000335.5(SCN5A):c.5378del (p.Phe1793fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38620877:AT:A,SCN5A,VCV000851951,851951,NM_000335.5(SCN5A):c.576del (p.Trp193fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38587575:T:C,SCN5A,VCV000851217,851217,NM_000335.5(SCN5A):c.2263-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38622405:A:C,SCN5A,VCV000850294,850294,NM_000335.5(SCN5A):c.477T>G (p.Tyr159Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38633190:G:A,SCN5A,VCV000848941,848941,NM_000335.5(SCN5A):c.118C>T (p.Gln40Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38560209:AG:A,SCN5A,VCV000848007,848007,NM_000335.5(SCN5A):c.4179del (p.Trp1394fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38575452:C:T,SCN5A,VCV000847226,847226,NM_000335.5(SCN5A):c.3509-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581258:CT:C,SCN5A,VCV000845474,845474,NM_000335.5(SCN5A):c.2900del (p.Gln967fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38606705:CA:C,SCN5A,VCV000844438,844438,NM_000335.5(SCN5A):c.1103del (p.Leu368fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38554381:A:G,SCN5A,VCV000830371,830371,NM_000335.5(SCN5A):c.4708T>C (p.Phe1570Leu),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,exact_match_without_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38562436:CAG:C,SCN5A,VCV000817608,817608,NM_000335.5(SCN5A):c.3937_3938del (p.Leu1313fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38603945:C:A,SCN5A,VCV000811838,811838,NM_000335.5(SCN5A):c.1657G>T (p.Glu553Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38576715:G:A,SCN5A,VCV000801959,801959,NM_000335.5(SCN5A):c.3454C>T (p.Gln1152Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38554372:C:A,SCN5A,VCV000691966,691966,NM_000335.5(SCN5A):c.4717G>T (p.Glu1573Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38557229:A:AC,SCN5A,VCV000691705,691705,NM_000335.5(SCN5A):c.4296+1dup,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38551515:CG:C,SCN5A,VCV000689494,689494,NM_000335.5(SCN5A):c.4853del (p.Pro1618fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38557286:T:C,SCN5A,VCV000667016,667016,NM_000335.5(SCN5A):c.4243-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38575390:C:T,SCN5A,VCV000660776,660776,NM_000335.5(SCN5A):c.3570G>A (p.Trp1190Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38587537:T:TG,SCN5A,VCV000654856,654856,NM_000335.5(SCN5A):c.2298dup (p.Lys767fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38606674:G:A,SCN5A,VCV000641344,641344,NM_000335.5(SCN5A):c.1135C>T (p.Gln379Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38555735:G:T,SCN5A,VCV000637991,637991,NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38606743:C:A,SCN5A,VCV000637989,637989,NM_000335.5(SCN5A):c.1066G>T (p.Asp356Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581213:A:T,SCN5A,VCV000633410,633410,NM_000335.5(SCN5A):c.2946T>A (p.Cys982Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38566565:G:C,SCN5A,VCV000632980,632980,NM_000335.5(SCN5A):c.3681C>G (p.Tyr1227Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38556566:G:A,SCN5A,VCV000598785,598785,NM_000335.5(SCN5A):c.4309C>T (p.Pro1437Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38622447:G:T,SCN5A,VCV000598784,598784,NM_000335.5(SCN5A):c.435C>A (p.Cys145Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38550986:C:A,SCN5A,VCV000583354,583354,NM_000335.5(SCN5A):c.5383G>T (p.Glu1795Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38554434:CT:C,SCN5A,VCV000582177,582177,NM_000335.5(SCN5A):c.4654del (p.Ser1552fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38555665:T:TGGG,SCN5A,VCV000581866,581866,NM_000335.5(SCN5A):c.4527_4529dup (p.Pro1510dup),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38550986:CAT:C,SCN5A,VCV000579734,579734,NM_000335.5(SCN5A):c.5381_5382del (p.Phe1793_Tyr1794insTer),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38550773:C:A,SCN5A,VCV000572957,572957,NM_000335.5(SCN5A):c.5596G>T (p.Glu1866Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38551007:CCTCA:C,SCN5A,VCV000572252,572252,NM_000335.5(SCN5A):c.5358_5361del (p.Ser1786fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38609920:G:C,SCN5A,VCV000572011,572011,NM_000335.5(SCN5A):c.748C>G (p.Leu250Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38551093:A:C,SCN5A,VCV000571408,571408,NM_000335.5(SCN5A):c.5276T>G (p.Phe1759Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38555727:G:A,SCN5A,VCV000560692,560692,NM_000335.5(SCN5A):c.4468C>T (p.Gln1490Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38603988:AC:A,SCN5A,VCV000523568,523568,NM_000335.5(SCN5A):c.1613del (p.Gly538fs),Pathogenic/Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581191:G:A,SCN5A,VCV000520461,520461,NM_000335.5(SCN5A):c.2968C>T (p.Gln990Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38566437:C:T,SCN5A,VCV000519554,519554,NM_000335.5(SCN5A):c.3809G>A (p.Trp1270Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38579461:GC:G,SCN5A,VCV000519464,519464,NM_000335.5(SCN5A):c.3259del (p.Ala1087fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38598917:C:T,SCN5A,VCV000519460,519460,NM_000335.5(SCN5A):c.2023+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38556493:AG:A,SCN5A,VCV000519429,519429,NM_000335.5(SCN5A):c.4381del (p.Thr1460_Leu1461insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38551074:C:T,SCN5A,VCV000519384,519384,NM_000335.5(SCN5A):c.5295G>A (p.Met1765Ile),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38586012:C:T,SCN5A,VCV000505895,505895,NM_000335.5(SCN5A):c.2466G>A (p.Trp822Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38609966:T:C,SCN5A,VCV000505834,505834,NM_000335.5(SCN5A):c.704-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38575452:C:G,SCN5A,VCV000496573,496573,NM_000335.5(SCN5A):c.3509-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38562501:AG:A,SCN5A,VCV000463332,463332,NM_000335.5(SCN5A):c.3873del (p.Phe1292fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581077:AC:A,SCN5A,VCV000463318,463318,NM_000335.5(SCN5A):c.3081del (p.Phe1028fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38633104:A:T,SCN5A,VCV000463308,463308,NM_000335.5(SCN5A):c.204T>A (p.Tyr68Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38606688:C:T,SCN5A,VCV000463292,463292,NM_000335.5(SCN5A):c.1121G>A (p.Trp374Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38550909:CAG:C,SCN5A,VCV000452184,452184,NM_000335.5(SCN5A):c.5458_5459del (p.Leu1820fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38622414:C:T,SCN5A,VCV000448976,448976,NM_000335.5(SCN5A):c.468G>A (p.Trp156Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38551076:T:A,SCN5A,VCV000446418,446418,NM_000335.5(SCN5A):c.5293A>T (p.Met1765Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38560392:TGGACG:T,SCN5A,VCV000432733,432733,NM_000335.5(SCN5A):c.3992_3996del (p.Pro1331fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38622491:T:C,SCN5A,VCV000432148,432148,NM_000335.5(SCN5A):c.393-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38560245:G:A,SCN5A,VCV000431948,431948,NM_000335.5(SCN5A):c.4144C>T (p.Gln1382Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38633204:CCG:C,SCN5A,VCV000429979,429979,NM_000335.5(SCN5A):c.102_103del (p.Gly35fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38551289:G:A,SCN5A,VCV000426612,426612,NM_000335.5(SCN5A):c.5080C>T (p.Gln1694Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38551181:TG:T,SCN5A,VCV000426254,426254,NM_000335.5(SCN5A):c.5187del (p.Thr1730fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38560197:TC:T,SCN5A,VCV000423108,423108,NM_000335.5(SCN5A):c.4191del (p.Val1399fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38579476:GA:G,SCN5A,VCV000422443,422443,NM_000335.5(SCN5A):c.3244del (p.Ser1082fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38599020:G:A,SCN5A,VCV000421358,421358,NM_000335.5(SCN5A):c.1921C>T (p.Gln641Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38550838:C:CCACT,SCN5A,VCV000420342,420342,NM_000335.5(SCN5A):c.5527_5530dup (p.Gly1844fs),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38587501:G:GTTGGAAA,SCN5A,VCV000419109,419109,NM_000335.5(SCN5A):c.2334_2335insTTTCCAA (p.Gln779fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38550944:C:A,SCN5A,VCV000406440,406440,NM_000335.5(SCN5A):c.5425G>T (p.Glu1809Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38633203:GC:G,SCN5A,VCV000406435,406435,NM_000335.5(SCN5A):c.104del (p.Gly35fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38579439:C:T,SCN5A,VCV000406434,406434,NM_000335.5(SCN5A):c.3282G>A (p.Trp1094Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38609764:C:A,SCN5A,VCV000406427,406427,NM_000335.5(SCN5A):c.904G>T (p.Glu302Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581226:C:T,SCN5A,VCV000406426,406426,NM_000335.5(SCN5A):c.2933G>A (p.Trp978Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38581136:GGGGTGGCAATGCA:G,SCN5A,VCV000406419,406419,NM_000335.5(SCN5A):c.3010_3022del (p.Cys1004fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38550782:C:A,SCN5A,VCV000406418,406418,NM_000335.5(SCN5A):c.5587G>T (p.Glu1863Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38550951:CTGAG:C,SCN5A,VCV000406415,406415,NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38585842:C:T,SCN5A,VCV000406396,406396,NM_000335.5(SCN5A):c.2636G>A (p.Trp879Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38597804:GAGT:G,SCN5A,VCV000403732,403732,NM_000335.5(SCN5A):c.2184_2186del (p.Leu729del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38633034:C:T,SCN5A,VCV000392337,392337,NM_000335.5(SCN5A):c.273+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38551459:C:G,SCN5A,VCV000389150,389150,NM_000335.5(SCN5A):c.4910G>C (p.Arg1637Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-3:38606034:G:A,SCN5A,VCV000374130,374130,NM_000335.5(SCN5A):c.1255C>T (p.Gln419Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-21:34449542:GGCCAGGCCCGACATGTT:G,KCNE1,VCV004724223,4724223,NM_000219.6(KCNE1):c.76_92del (p.Asn26fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-21:34449512:CT:C,KCNE1,VCV003601178,3601178,NM_000219.6(KCNE1):c.122del (p.Lys41fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-21:34449404:TG:T,KCNE1,VCV001415503,1415503,NM_000219.6(KCNE1):c.230del (p.Pro77fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-21:34449611:C:CGCTG,KCNE1,VCV001343372,1343372,NM_000219.6(KCNE1):c.20_23dup (p.Val9fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.4166666666666667,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-21:34449634:T:A,KCNE1,VCV001065921,1065921,NM_000219.6(KCNE1):c.1A>T (p.Met1Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-21:34449540:C:CG,KCNE1,VCV000812588,812588,NM_000219.6(KCNE1):c.94dup (p.Arg32fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-21:34449367:T:A,KCNE1,VCV000620398,620398,NM_000219.6(KCNE1):c.268A>T (p.Lys90Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-21:34449429:TTGGA:T,KCNE1,VCV000527017,527017,NM_000219.6(KCNE1):c.202_205del (p.Ser68fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-21:34449406:GGT:TAGA,KCNE1,VCV000441101,441101,NM_000219.6(KCNE1):c.227_229delinsTCTA (p.Asp76fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.4166666666666667,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-1:237784024:C:A,RYR2,VCV004814200,4814200,NM_001035.3(RYR2):c.12312C>A (p.Asn4104Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237808911:C:T,RYR2,VCV004800130,4800130,NM_001035.3(RYR2):c.14309C>T (p.Thr4770Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237784290:G:T,RYR2,VCV004800118,4800118,NM_001035.3(RYR2):c.12578G>T (p.Cys4193Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237783729:C:T,RYR2,VCV004800115,4800115,NM_001035.3(RYR2):c.12017C>T (p.Ser4006Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237707057:A:G,RYR2,VCV004800104,4800104,NM_001035.3(RYR2):c.9689A>G (p.Gln3230Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237633707:C:A,RYR2,VCV004800083,4800083,NM_001035.3(RYR2):c.6685C>A (p.Leu2229Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237778718:C:A,RYR2,VCV004697937,4697937,NM_001035.3(RYR2):c.11828C>A (p.Ala3943Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237778727:G:T,RYR2,VCV004614849,4614849,NM_001035.3(RYR2):c.11837G>T (p.Gly3946Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237441455:CCGTGAGAATGGGATCTATACAACGTAAGGTAAGGTGATAGAAAAAAACATAATTTATAGAAGTAATTTTTTATGAATACACAAGCACAAG:C,RYR2,VCV004542511,4542511,NM_001035.3(RYR2):c.1143_1170+62del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237784242:T:G,RYR2,VCV004537880,4537880,NM_001035.3(RYR2):c.12530T>G (p.Val4177Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237783938:G:A,RYR2,VCV004531406,4531406,NM_001035.3(RYR2):c.12226G>A (p.Glu4076Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237441383:G:T,RYR2,VCV004291726,4291726,NM_001035.3(RYR2):c.1070G>T (p.Gly357Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237387326:C:T,RYR2,VCV004071994,4071994,NM_001035.3(RYR2):c.622C>T (p.Gln208Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237793907:G:T,RYR2,VCV003949071,3949071,NM_001035.3(RYR2):c.13823G>T (p.Arg4608Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237441275:TTTTTGAAATGTTTACTGACCTTTTTTTCCTCCTCTCCCCTTAGGA:ATTTTG,RYR2,VCV003901845,3901845,NM_001035.3(RYR2):c.1006-44_1007delinsATTTTG,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237819130:G:T,RYR2,VCV003895065,3895065,NM_001035.3(RYR2):c.14528G>T (p.Arg4843Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237801912:A:G,RYR2,VCV003894941,3894941,NM_001035.3(RYR2):c.14147A>G (p.Asp4716Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237648501:C:T,RYR2,VCV003894655,3894655,NM_001035.3(RYR2):c.7400C>T (p.Ala2467Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237377353:C:A,RYR2,VCV003776659,3776659,NM_001035.3(RYR2):c.494C>A (p.Ala165Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237783971:T:C,RYR2,VCV003766443,3766443,NM_001035.3(RYR2):c.12259T>C (p.Phe4087Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237798092:G:A,RYR2,VCV003633845,3633845,NM_001035.3(RYR2):c.14012G>A (p.Gly4671Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237784143:G:T,RYR2,VCV003633837,3633837,NM_001035.3(RYR2):c.12431G>T (p.Arg4144Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237639059:A:G,RYR2,VCV003633806,3633806,NM_001035.3(RYR2):c.6973A>G (p.Ile2325Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237784233:T:C,RYR2,VCV003572967,3572967,NM_001035.3(RYR2):c.12521T>C (p.Phe4174Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237640950:C:T,RYR2,VCV003544417,3544417,NM_001035.3(RYR2):c.7169C>T (p.Thr2390Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237638457:A:G,RYR2,VCV003544409,3544409,NM_001035.3(RYR2):c.6893A>G (p.Tyr2298Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237778684:C:G,RYR2,VCV003391121,3391121,NM_001035.3(RYR2):c.11794C>G (p.Gln3932Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237808910:A:G,RYR2,VCV003383138,3383138,NM_001035.3(RYR2):c.14308A>G (p.Thr4770Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237727196:C:T,RYR2,VCV003382069,3382069,NM_001035.3(RYR2):c.10835C>T (p.Pro3612Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237640956:A:T,RYR2,VCV003338338,3338338,NM_001035.3(RYR2):c.7175A>T (p.Tyr2392Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237806143:C:T,RYR2,VCV003337537,3337537,NM_001035.3(RYR2):c.14158C>T (p.Leu4720Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237708886:GAAAC:G,RYR2,VCV003065287,3065287,NM_001035.3(RYR2):c.9931_9934del (p.Lys3311fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237819075:G:A,RYR2,VCV002920176,2920176,NM_001035.3(RYR2):c.14473G>A (p.Gly4825Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237638437:C:A,RYR2,VCV002883988,2883988,NM_001035.3(RYR2):c.6873C>A (p.Asn2291Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237643382:T:G,RYR2,VCV002865610,2865610,NM_001035.3(RYR2):c.7277T>G (p.Leu2426Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237638462:G:C,RYR2,VCV002840453,2840453,NM_001035.3(RYR2):c.6898G>C (p.Asp2300His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237445429:A:G,RYR2,VCV002806184,2806184,NM_001035.3(RYR2):c.1199A>G (p.Asp400Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237793882:T:A,RYR2,VCV002758112,2758112,NM_001035.3(RYR2):c.13798T>A (p.Phe4600Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237784223:C:G,RYR2,VCV002747580,2747580,NM_001035.3(RYR2):c.12511C>G (p.Gln4171Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237648521:A:G,RYR2,VCV002734117,2734117,NM_001035.3(RYR2):c.7420A>G (p.Arg2474Gly),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237783984:C:G,RYR2,VCV002727021,2727021,NM_001035.3(RYR2):c.12272C>G (p.Ala4091Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237832640:T:C,RYR2,VCV002719667,2719667,NM_001035.3(RYR2):c.14897T>C (p.Leu4966Pro),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237377426:A:C,RYR2,VCV002707246,2707246,NM_001035.3(RYR2):c.567A>C (p.Glu189Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237784131:G:C,RYR2,VCV002587823,2587823,NM_001035.3(RYR2):c.12419G>C (p.Gly4140Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237638403:T:C,RYR2,VCV002575972,2575972,NM_001035.3(RYR2):c.6839T>C (p.Leu2280Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237806282:A:C,RYR2,VCV002500749,2500749,NM_001035.3(RYR2):c.14297A>C (p.Gln4766Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237778695:G:C,RYR2,VCV002441802,2441802,NM_001035.3(RYR2):c.11805G>C (p.Leu3935Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237784307:G:C,RYR2,VCV002435632,2435632,NM_001035.3(RYR2):c.12595G>C (p.Glu4199Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237783728:T:A,RYR2,VCV002433112,2433112,NM_001035.3(RYR2):c.12016T>A (p.Ser4006Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237377349:C:T,RYR2,VCV002203006,2203006,NM_001035.3(RYR2):c.490C>T (p.Pro164Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237784187:C:A,RYR2,VCV002169498,2169498,NM_001035.3(RYR2):c.12475C>A (p.Gln4159Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237633624:G:A,RYR2,VCV002151921,2151921,NM_001035.3(RYR2):c.6602G>A (p.Cys2201Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237808913:G:T,RYR2,VCV002125455,2125455,NM_001035.3(RYR2):c.14311G>T (p.Val4771Phe),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237783980:C:G,RYR2,VCV002120716,2120716,NM_001035.3(RYR2):c.12268C>G (p.Pro4090Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237643361:T:C,RYR2,VCV002105630,2105630,NM_001035.3(RYR2):c.7256T>C (p.Ile2419Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237638480:G:T,RYR2,VCV002101383,2101383,NM_001035.3(RYR2):c.6916G>T (p.Val2306Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237445429:A:C,RYR2,VCV002075220,2075220,NM_001035.3(RYR2):c.1199A>C (p.Asp400Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237633654:A:C,RYR2,VCV002018903,2018903,NM_001035.3(RYR2):c.6632A>C (p.Gln2211Pro),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237784233:T:A,RYR2,VCV001997174,1997174,NM_001035.3(RYR2):c.12521T>A (p.Phe4174Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237784034:C:T,RYR2,VCV001932217,1932217,NM_001035.3(RYR2):c.12322C>T (p.His4108Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237445474:C:T,RYR2,VCV001805497,1805497,NM_001035.3(RYR2):c.1244C>T (p.Thr415Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237270587:T:C,RYR2,VCV001805396,1805396,NM_001035.3(RYR2):c.139T>C (p.Cys47Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237832604:C:G,RYR2,VCV001773663,1773663,NM_001035.3(RYR2):c.14861C>G (p.Ala4954Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237377364:C:G,RYR2,VCV001745086,1745086,NM_001035.3(RYR2):c.505C>G (p.Arg169Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237723201:A:ATCCAGAGAAGACGGTAGAAAGAG,RYR2,VCV001710227,1710227,NM_001035.3(RYR2):c.10630_10652dup (p.Val3551_Leu3552insGlnArgArgArgTer),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237798100:A:G,RYR2,VCV001693182,1693182,NM_001035.3(RYR2):c.14020A>G (p.Lys4674Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237830611:C:T,RYR2,VCV001527876,1527876,NM_001035.3(RYR2):c.14737C>T (p.His4913Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237634949:A:T,RYR2,VCV001527868,1527868,NM_001035.3(RYR2):c.6749A>T (p.Asn2250Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237445402:C:A,RYR2,VCV001524904,1524904,NM_001035.3(RYR2):c.1172C>A (p.Ala391Asp),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237633669:A:G,RYR2,VCV001499030,1499030,NM_001035.3(RYR2):c.6647A>G (p.Asp2216Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237757772:A:G,RYR2,VCV001496297,1496297,NM_001035.3(RYR2):c.11321A>G (p.Gln3774Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237806211:C:A,RYR2,VCV001480185,1480185,NM_001035.3(RYR2):c.14226C>A (p.His4742Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237830584:G:A,RYR2,VCV001479669,1479669,NM_001035.3(RYR2):c.14710G>A (p.Gly4904Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237781643:G:C,RYR2,VCV001474443,1474443,NM_001035.3(RYR2):c.11959G>C (p.Glu3987Gln),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237784315:G:T,RYR2,VCV001472640,1472640,NM_001035.3(RYR2):c.12603G>T (p.Gln4201His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237806237:A:T,RYR2,VCV001467901,1467901,NM_001035.3(RYR2):c.14252A>T (p.Lys4751Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237640994:G:A,RYR2,VCV001451617,1451617,NM_001035.3(RYR2):c.7213G>A (p.Glu2405Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237793882:T:C,RYR2,VCV001441921,1441921,NM_001035.3(RYR2):c.13798T>C (p.Phe4600Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237784158:A:G,RYR2,VCV001441891,1441891,NM_001035.3(RYR2):c.12446A>G (p.Tyr4149Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237784176:C:A,RYR2,VCV001410932,1410932,NM_001035.3(RYR2):c.12464C>A (p.Ser4155Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237638464:C:G,RYR2,VCV001384586,1384586,NM_001035.3(RYR2):c.6900C>G (p.Asp2300Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237649944:T:G,RYR2,VCV001383749,1383749,NM_001035.3(RYR2):c.7580T>G (p.Leu2527Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237793920:T:G,RYR2,VCV001363823,1363823,NM_001035.3(RYR2):c.13836T>G (p.Phe4612Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237760996:A:G,RYR2,VCV001346560,1346560,NM_001035.3(RYR2):c.11444A>G (p.Glu3815Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237441339:GAGAAA:G,RYR2,VCV001342890,1342890,NM_001035.3(RYR2):c.1031_1035del (p.Lys344fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237469125:C:T,RYR2,VCV001330215,1330215,NM_001035.3(RYR2):c.1646C>T (p.Ala549Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237772037:G:C,RYR2,VCV001213111,1213111,NM_001035.3(RYR2):c.11583G>C (p.Gln3861His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237784299:C:T,RYR2,VCV001119951,1119951,NM_001035.3(RYR2):c.12587C>T (p.Thr4196Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237783695:A:C,RYR2,VCV001119950,1119950,NM_001035.3(RYR2):c.11983A>C (p.Ile3995Leu),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237377373:G:A,RYR2,VCV001072928,1072928,NM_001035.3(RYR2):c.514G>A (p.Gly172Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237648522:G:A,RYR2,VCV001072597,1072597,NM_001035.3(RYR2):c.7421G>A (p.Arg2474Lys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237783981:C:T,RYR2,VCV001070571,1070571,NM_001035.3(RYR2):c.12269C>T (p.Pro4090Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237639019:G:C,RYR2,VCV001069130,1069130,NM_001035.3(RYR2):c.6933G>C (p.Glu2311Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237806159:A:G,RYR2,VCV001067931,1067931,NM_001035.3(RYR2):c.14174A>G (p.Tyr4725Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237377396:T:A,RYR2,VCV001067138,1067138,NM_001035.3(RYR2):c.537T>A (p.Asp179Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237806219:A:G,RYR2,VCV001066599,1066599,NM_001035.3(RYR2):c.14234A>G (p.Asp4745Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237631490:C:A,RYR2,VCV001051501,1051501,NM_001035.3(RYR2):c.6504C>A (p.His2168Gln),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237828441:T:TTCC,RYR2,VCV001013805,1013805,NM_001035.3(RYR2):c.14651_14652insTCC (p.Met4884delinsIlePro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237784055:C:T,RYR2,VCV001007679,1007679,NM_001035.3(RYR2):c.12343C>T (p.Leu4115Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237674163:A:AG,RYR2,VCV000982634,982634,NM_001035.3(RYR2):c.8659dup (p.Glu2887fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237445474:C:A,RYR2,VCV000979205,979205,NM_001035.3(RYR2):c.1244C>A (p.Thr415Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237784211:G:A,RYR2,VCV000979204,979204,NM_001035.3(RYR2):c.12499G>A (p.Glu4167Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237707216:T:A,RYR2,VCV000978366,978366,NM_001035.3(RYR2):c.9848T>A (p.Ile3283Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237633671:C:T,RYR2,VCV000957942,957942,NM_001035.3(RYR2):c.6649C>T (p.His2217Tyr),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237633708:T:C,RYR2,VCV000954202,954202,NM_001035.3(RYR2):c.6686T>C (p.Leu2229Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237492996:G:A,RYR2,VCV000947851,947851,NM_001035.3(RYR2):c.1870G>A (p.Ala624Thr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237388087:G:A,RYR2,VCV000947702,947702,NM_001035.3(RYR2):c.677G>A (p.Gly226Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237759848:T:C,RYR2,VCV000940323,940323,NM_001035.3(RYR2):c.11398T>C (p.Cys3800Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237759824:AGCCTGGCCG:A,RYR2,VCV000933804,933804,NM_001035.3(RYR2):c.11380_11388del (p.Ala3794_Leu3796del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237709543:G:GT,RYR2,VCV000931781,931781,NM_001035.3(RYR2):c.10209dup (p.Ile3404fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237648558:ATCTTCTTGAGGT:A,RYR2,VCV000915531,915531,NM_001035.3(RYR2):c.7459_7470del (p.Leu2487_Val2490del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237270563:G:GCAGAAGGATTTGGCAA,RYR2,VCV000870975,870975,NM_001035.3(RYR2):c.120_135dup (p.Leu46fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237831526:G:T,RYR2,VCV000869428,869428,NM_001035.3(RYR2):c.14769G>T (p.Met4923Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237648525:T:C,RYR2,VCV000861770,861770,NM_001035.3(RYR2):c.7424T>C (p.Val2475Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237639068:C:G,RYR2,VCV000840374,840374,NM_001035.3(RYR2):c.6982C>G (p.Pro2328Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237798158:CCTT:C,RYR2,VCV000692253,692253,NM_001035.3(RYR2):c.14079_14081del (p.Leu4694del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237784301:A:C,RYR2,VCV000665174,665174,NM_001035.3(RYR2):c.12589A>C (p.Ile4197Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237784290:G:A,RYR2,VCV000656745,656745,NM_001035.3(RYR2):c.12578G>A (p.Cys4193Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237423097:G:T,RYR2,VCV000654791,654791,NM_001035.3(RYR2):c.854G>T (p.Ser285Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237778755:G:C,RYR2,VCV000654125,654125,NM_001035.3(RYR2):c.11865G>C (p.Gln3955His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237830557:A:C,RYR2,VCV000651491,651491,NM_001035.3(RYR2):c.14683A>C (p.Asn4895His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237643361:T:G,RYR2,VCV000649923,649923,NM_001035.3(RYR2):c.7256T>G (p.Ile2419Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237778727:G:A,RYR2,VCV000644207,644207,NM_001035.3(RYR2):c.11837G>A (p.Gly3946Asp),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237778678:G:C,RYR2,VCV000637985,637985,NM_001035.3(RYR2):c.11788G>C (p.Gly3930Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237784280:G:A,RYR2,VCV000580536,580536,NM_001035.3(RYR2):c.12568G>A (p.Val4190Met),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237784189:G:T,RYR2,VCV000578246,578246,NM_001035.3(RYR2):c.12477G>T (p.Gln4159His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237792319:T:C,RYR2,VCV000575682,575682,NM_001035.3(RYR2):c.13778T>C (p.Leu4593Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237778753:C:G,RYR2,VCV000575059,575059,NM_001035.3(RYR2):c.11863C>G (p.Gln3955Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237633668:G:C,RYR2,VCV000571532,571532,NM_001035.3(RYR2):c.6646G>C (p.Asp2216His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237784251:G:T,RYR2,VCV000570194,570194,NM_001035.3(RYR2):c.12539G>T (p.Gly4180Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237791480:G:C,RYR2,VCV000568135,568135,NM_001035.3(RYR2):c.13528G>C (p.Ala4510Pro),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237819188:A:G,RYR2,VCV000566084,566084,NM_001035.3(RYR2):c.14586A>G (p.Ile4862Met),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237784261:AGAG:A,RYR2,VCV000560709,560709,NM_001035.3(RYR2):c.12550_12552del (p.Glu4184del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237628052:G:A,RYR2,VCV000532366,532366,NM_001035.3(RYR2):c.6412G>A (p.Glu2138Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237819187:T:C,RYR2,VCV000532324,532324,NM_001035.3(RYR2):c.14585T>C (p.Ile4862Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237441320:A:G,RYR2,VCV000520467,520467,NM_001035.3(RYR2):c.1007A>G (p.Glu336Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237639110:G:A,RYR2,VCV000519356,519356,NM_001035.3(RYR2):c.7024G>A (p.Gly2342Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237639095:G:C,RYR2,VCV000463624,463624,NM_001035.3(RYR2):c.7009G>C (p.Gly2337Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237377426:A:T,RYR2,VCV000463608,463608,NM_001035.3(RYR2):c.567A>T (p.Glu189Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237377374:G:A,RYR2,VCV000463605,463605,NM_001035.3(RYR2):c.515G>A (p.Gly172Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237819192:G:T,RYR2,VCV000463579,463579,NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237806236:A:G,RYR2,VCV000463577,463577,NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237445428:G:A,RYR2,VCV000463549,463549,NM_001035.3(RYR2):c.1198G>A (p.Asp400Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237808943:T:C,RYR2,VCV000452065,452065,NM_001035.3(RYR2):c.14341T>C (p.Tyr4781His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237639026:GAG:AAA,RYR2,VCV000450836,450836,NM_001035.3(RYR2):c.6940_6942delinsAAA (p.Glu2314Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,MNV_or_substitution,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237832607:G:A,RYR2,VCV000449306,449306,NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237783708:T:C,RYR2,VCV000427948,427948,NM_001035.3(RYR2):c.11996T>C (p.Met3999Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237377361:C:G,RYR2,VCV000427184,427184,NM_001035.3(RYR2):c.502C>G (p.Gln168Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237781598:A:G,RYR2,VCV000427164,427164,NM_001035.3(RYR2):c.11914A>G (p.Met3972Val),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237828390:T:C,RYR2,VCV000423597,423597,NM_001035.3(RYR2):c.14600T>C (p.Ile4867Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237784281:T:G,RYR2,VCV000420865,420865,NM_001035.3(RYR2):c.12569T>G (p.Val4190Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237783714:A:G,RYR2,VCV000418465,418465,NM_001035.3(RYR2):c.12002A>G (p.Asp4001Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237638450:G:A,RYR2,VCV000404218,404218,NM_001035.3(RYR2):c.6886G>A (p.Glu2296Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237756342:C:T,RYR2,VCV000404208,404208,NM_001035.3(RYR2):c.11200C>T (p.Arg3734Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237832592:A:G,RYR2,VCV000372588,372588,NM_001035.3(RYR2):c.14849A>G (p.Glu4950Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:237377365:G:T,RYR2,VCV000372582,372582,NM_001035.3(RYR2):c.506G>T (p.Arg169Leu),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115702981:C:T,CASQ2,VCV004798117,4798117,NM_001232.4(CASQ2):c.954G>A (p.Trp318Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115740766:C:A,CASQ2,VCV004281696,4281696,NM_001232.4(CASQ2):c.382G>T (p.Glu128Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115732899:AC:A,CASQ2,VCV004219483,4219483,NM_001232.4(CASQ2):c.606+1del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115705283:TCGTAG:T,CASQ2,VCV003722584,3722584,NM_001232.4(CASQ2):c.843_847del (p.Tyr282fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115768370:C:A,CASQ2,VCV003722580,3722580,NM_001232.4(CASQ2):c.172G>T (p.Glu58Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115768496:AG:A,CASQ2,VCV003688556,3688556,NM_001232.4(CASQ2):c.45del (p.Ser16fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115738337:T:A,CASQ2,VCV003676998,3676998,NM_001232.4(CASQ2):c.421-2A>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115732915:TG:T,CASQ2,VCV003638681,3638681,NM_001232.4(CASQ2):c.591del (p.Thr198fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115732924:AT:A,CASQ2,VCV003623127,3623127,NM_001232.4(CASQ2):c.582del (p.Lys194fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115768540:A:T,CASQ2,VCV003575736,3575736,NM_001232.4(CASQ2):c.2T>A (p.Met1Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115768531:GTT:G,CASQ2,VCV003575685,3575685,NM_001232.4(CASQ2):c.9_10del (p.Arg3fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115732899:A:T,CASQ2,VCV003575384,3575384,NM_001232.4(CASQ2):c.606+2T>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115701253:ATCGTCATCACTGT:A,CASQ2,VCV003338342,3338342,NM_001232.4(CASQ2):c.1175_1187del (p.Asp392fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115732976:T:C,CASQ2,VCV003263466,3263466,NM_001232.4(CASQ2):c.533-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115725509:CA:C,CASQ2,VCV002822271,2822271,NM_001232.4(CASQ2):c.781del (p.Trp261fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115768337:G:A,CASQ2,VCV002806492,2806492,NM_001232.4(CASQ2):c.205C>T (p.Gln69Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115725536:AG:A,CASQ2,VCV002770074,2770074,NM_001232.4(CASQ2):c.754del (p.Leu252fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115740732:AAG:A,CASQ2,VCV002744443,2744443,NM_001232.4(CASQ2):c.414_415del (p.Leu139fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115701359:C:T,CASQ2,VCV002717451,2717451,NM_001232.4(CASQ2):c.1082G>A (p.Trp361Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115768510:AT:A,CASQ2,VCV002704628,2704628,NM_001232.4(CASQ2):c.31del (p.Ile11fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115744878:C:CTA,CASQ2,VCV002506578,2506578,NM_001232.4(CASQ2):c.268_269insTA (p.Gly90fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115727123:C:T,CASQ2,VCV002438853,2438853,NM_001232.4(CASQ2):c.607-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115744826:A:C,CASQ2,VCV002089290,2089290,NM_001232.4(CASQ2):c.319+2T>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115744885:C:CT,CASQ2,VCV001793918,1793918,NM_001232.4(CASQ2):c.261dup (p.Ala88fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5125,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115744827:C:T,CASQ2,VCV001324014,1324014,NM_001232.4(CASQ2):c.319+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-1:115768540:A:G,CASQ2,VCV000452250,452250,NM_001232.4(CASQ2):c.2T>C (p.Met1Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-6:123548549:G:GT,TRDN,VCV004782180,4782180,NM_006073.4(TRDN):c.295dup (p.Thr99fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-6:123503717:A:G,TRDN,VCV004714700,4714700,NM_006073.4(TRDN):c.793+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-6:123516169:TA:T,TRDN,VCV004712099,4712099,NM_006073.4(TRDN):c.521del (p.Val174fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-6:123337646:T:A,TRDN,VCV004077705,4077705,NM_006073.4(TRDN):c.1393A>T (p.Lys465Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-6:123516208:T:A,TRDN,VCV003721374,3721374,NM_006073.4(TRDN):c.485-2A>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-6:123571134:T:C,TRDN,VCV003669900,3669900,NM_006073.4(TRDN):c.23-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-6:123548461:AG:A,TRDN,VCV003593000,3593000,NM_006073.4(TRDN):c.383del (p.Thr128fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-6:123503894:CTTCTG:C,TRDN,VCV002920531,2920531,NC_000006.12:g.123503896TCTGT[1],Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-6:123548510:TC:T,TRDN,VCV002818604,2818604,NM_006073.4(TRDN):c.334del (p.Asp112fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-6:123503902:C:T,TRDN,VCV002730579,2730579,NM_006073.4(TRDN):c.611-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-6:123548518:CA:C,TRDN,VCV002634568,2634568,NM_006073.4(TRDN):c.326del (p.Leu109fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-6:123530539:G:A,TRDN,VCV002018973,2018973,NM_006073.4(TRDN):c.451C>T (p.Gln151Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-6:123636774:A:G,TRDN,VCV001798674,1798674,NM_006073.4(TRDN):c.2T>C (p.Met1Thr),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-6:123548553:C:TT,TRDN,VCV001797791,1797791,NM_006073.4(TRDN):c.292delinsAA (p.Glu98fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-6:123516157:TTC:T,TRDN,VCV001746830,1746830,NM_006073.4(TRDN):c.532_533del (p.Glu178fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-6:123516183:C:A,TRDN,VCV001708485,1708485,NM_006073.4(TRDN):c.508G>T (p.Gly170Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-6:123571063:AC:A,TRDN,VCV001458047,1458047,NM_006073.4(TRDN):c.91del (p.Val31fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-6:123570921:A:T,TRDN,VCV000463677,463677,NM_006073.4(TRDN):c.232+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-6:123570988:A:G,TRDN,VCV000408740,408740,NM_006073.4(TRDN):c.167T>C (p.Leu56Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-6:123503893:TC:T,TRDN,VCV000408737,408737,NM_006073.4(TRDN):c.618del (p.Ala208fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-14:90404482:A:T,CALM1,VCV004787824,4787824,NM_006888.6(CALM1):c.389A>T (p.Asp130Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-14:90403953:C:G,CALM1,VCV004785412,4785412,NM_006888.6(CALM1):c.270C>G (p.Phe90Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-14:90404491:G:T,CALM1,VCV003338336,3338336,NM_006888.6(CALM1):c.398G>T (p.Gly133Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-14:90404379:G:T,CALM1,VCV002100843,2100843,NM_006888.6(CALM1):c.286G>T (p.Asp96Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-14:90404488:A:G,CALM1,VCV001362982,1362982,NM_006888.6(CALM1):c.395A>G (p.Asp132Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-14:90404689:A:T,CALM1,VCV000974613,974613,NM_006888.6(CALM1):c.422A>T (p.Glu141Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-14:90404689:A:G,CALM1,VCV000974612,974612,NM_006888.6(CALM1):c.422A>G (p.Glu141Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-14:90404693:C:A,CALM1,VCV000961658,961658,NM_006888.6(CALM1):c.426C>A (p.Phe142Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-14:90404488:A:T,CALM1,VCV000948239,948239,NM_006888.6(CALM1):c.395A>T (p.Asp132Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-14:90404487:G:A,CALM1,VCV000639902,639902,NM_006888.6(CALM1):c.394G>A (p.Asp132Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-14:90404491:G:A,CALM1,VCV000542137,542137,NM_006888.6(CALM1):c.398G>A (p.Gly133Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-14:90404691:T:C,CALM1,VCV000426161,426161,NM_006888.6(CALM1):c.424T>C (p.Phe142Leu),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-14:90404512:A:T,CALM1,VCV000418107,418107,NM_006888.6(CALM1):c.419A>T (p.Glu140Val),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-14:90404406:G:A,CALM1,VCV000388500,388500,NM_006888.6(CALM1):c.313G>A (p.Glu105Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-14:90401312:A:C,CALM1,VCV000384090,384090,NM_006888.6(CALM1):c.88A>C (p.Thr30Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-2:47162303:A:G,CALM2,VCV002734184,2734184,NM_001743.6(CALM2):c.268T>C (p.Phe90Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-2:47161831:C:G,CALM2,VCV002500174,2500174,NM_001743.6(CALM2):c.313G>C (p.Glu105Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-2:47161750:C:A,CALM2,VCV001456260,1456260,NM_001743.6(CALM2):c.394G>T (p.Asp132Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-2:47161756:C:T,CALM2,VCV001398892,1398892,NM_001743.6(CALM2):c.388G>A (p.Asp130Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-2:47161804:C:T,CALM2,VCV001327459,1327459,NM_001743.6(CALM2):c.340G>A (p.Gly114Arg),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-2:47161747:C:T,CALM2,VCV001067140,1067140,NM_001743.6(CALM2):c.397G>A (p.Gly133Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-2:47161749:T:C,CALM2,VCV000955533,955533,NM_001743.6(CALM2):c.395A>G (p.Asp132Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-2:47161755:T:C,CALM2,VCV000812710,812710,NM_001743.6(CALM2):c.389A>G (p.Asp130Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-2:47161858:C:A,CALM2,VCV000641544,641544,NM_001743.6(CALM2):c.286G>T (p.Asp96Tyr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-2:47160792:A:C,CALM2,VCV000576319,576319,NM_001743.6(CALM2):c.434T>G (p.Met145Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-2:47161730:G:C,CALM2,VCV000488476,488476,NM_001743.6(CALM2):c.414C>G (p.Asn138Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-2:47161744:C:T,CALM2,VCV000448971,448971,NM_001743.6(CALM2):c.400G>A (p.Asp134Asn),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-19:46609129:T:G,CALM3,VCV002138308,2138308,NM_005184.4(CALM3):c.426T>G (p.Phe142Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,strong,0.85,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-19:46608950:C:G,CALM3,VCV001358003,1358003,NM_005184.4(CALM3):c.390C>G (p.Asp130Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,strong,0.85,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-19:46608981:G:A,CALM3,VCV000812678,812678,NM_005184.4(CALM3):c.421G>A (p.Glu141Lys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,strong,0.85,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-19:46608949:A:G,CALM3,VCV000812676,812676,NM_005184.4(CALM3):c.389A>G (p.Asp130Gly),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,strong,0.85,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-19:46609125:A:G,CALM3,VCV000458198,458198,NM_005184.4(CALM3):c.422A>G (p.Glu141Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,strong,0.85,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-19:46608584:A:C,CALM3,VCV000409871,409871,NM_005184.4(CALM3):c.281A>C (p.Asp94Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,strong,0.85,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-19:46608846:G:C,CALM3,VCV000409870,409870,NM_005184.4(CALM3):c.286G>C (p.Asp96His),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,strong,0.85,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-19:46608955:A:G,CALM3,VCV000389576,389576,NM_005184.4(CALM3):c.395A>G (p.Asp132Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,strong,0.85,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
-4:113332071:G:A,ANK2,VCV004796659,4796659,NM_001148.6(ANK2):c.3224+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113343099:G:GT,ANK2,VCV004732021,4732021,NM_001148.6(ANK2):c.4212dup (p.Ala1405fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113359191:G:T,ANK2,VCV004725226,4725226,NM_001148.6(ANK2):c.10573G>T (p.Glu3525Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113357844:C:T,ANK2,VCV004721538,4721538,NM_001148.6(ANK2):c.9226C>T (p.Gln3076Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113333098:AG:A,ANK2,VCV004708265,4708265,NM_001148.6(ANK2):c.3271del (p.Glu1091fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113354062:CAG:C,ANK2,VCV004683080,4683080,NM_001148.6(ANK2):c.5450_5451del (p.Arg1817fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113357838:C:T,ANK2,VCV004613600,4613600,NM_001148.6(ANK2):c.9220C>T (p.Gln3074Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113357853:AC:A,ANK2,VCV004613598,4613598,NM_001148.6(ANK2):c.9239del (p.Pro3080fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113348282:G:T,ANK2,VCV004531921,4531921,NM_001148.6(ANK2):c.4378G>T (p.Glu1460Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113346023:G:A,ANK2,VCV004293673,4293673,NM_001148.6(ANK2):c.4371+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113356654:C:G,ANK2,VCV004292238,4292238,NM_001148.6(ANK2):c.8036C>G (p.Ser2679Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113358882:G:T,ANK2,VCV004097147,4097147,NM_001148.6(ANK2):c.10264G>T (p.Glu3422Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113357955:C:T,ANK2,VCV004097146,4097146,NM_001148.6(ANK2):c.9337C>T (p.Arg3113Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113287648:T:G,ANK2,VCV004088107,4088107,NM_001148.6(ANK2):c.2123T>G (p.Val708Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113355367:C:T,ANK2,VCV004075802,4075802,NM_001148.6(ANK2):c.6749C>T (p.Ser2250Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113353201:AG:A,ANK2,VCV004075490,4075490,NM_001148.6(ANK2):c.4585del (p.Ala1529fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113360821:A:G,ANK2,VCV004071961,4071961,NM_001148.6(ANK2):c.10682-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113346022:G:A,ANK2,VCV004071958,4071958,NM_001148.6(ANK2):c.4371G>A (p.Lys1457=),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113353828:T:A,ANK2,VCV004051668,4051668,NM_001148.6(ANK2):c.5210T>A (p.Leu1737Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113317810:G:A,ANK2,VCV003898990,3898990,NM_001148.6(ANK2):c.2796+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113353508:GAA:G,ANK2,VCV003897593,3897593,NM_001148.6(ANK2):c.4892_4893del (p.Lys1631fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113335941:C:T,ANK2,VCV003772520,3772520,NM_001148.6(ANK2):c.3475C>T (p.Gln1159Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113357857:CT:C,ANK2,VCV003729667,3729667,NM_001148.6(ANK2):c.9240del (p.Asp3081fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113357939:AT:A,ANK2,VCV003654249,3654249,NM_001148.6(ANK2):c.9323del (p.Leu3108fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113317795:AT:A,ANK2,VCV003632705,3632705,NM_001148.6(ANK2):c.2784del (p.Ser930fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113353367:TGA:T,ANK2,VCV003540989,3540989,NM_001148.6(ANK2):c.4755_4756del (p.Gly1586fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113330274:C:T,ANK2,VCV003540979,3540979,NM_001148.6(ANK2):c.2929C>T (p.Arg977Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113335878:C:T,ANK2,VCV003390615,3390615,NM_001148.6(ANK2):c.3412C>T (p.Arg1138Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113049789:CAG:C,ANK2,VCV003383192,3383192,NM_001148.6(ANK2):c.64_65del (p.Arg22fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113358927:ATACT:A,ANK2,VCV003377103,3377103,NM_001148.6(ANK2):c.10313_10316del (p.Leu3438fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113358157:ACTTACT:TGGATGATGAG,ANK2,VCV003376714,3376714,NM_001148.6(ANK2):c.9539_9545delinsTGGATGATGAG (p.Asp3180fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113354861:T:TG,ANK2,VCV003376713,3376713,NM_001148.6(ANK2):c.6245dup (p.Gly2083fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113354249:ACACT:A,ANK2,VCV003376711,3376711,NM_001148.6(ANK2):c.5635_5638del (p.Ser1879fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113365182:G:A,ANK2,VCV003365181,3365181,NM_001148.6(ANK2):c.11032G>A (p.Gly3678Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113354341:GC:G,ANK2,VCV003344952,3344952,NM_001148.6(ANK2):c.5724del (p.Thr1910fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113343143:G:T,ANK2,VCV003340753,3340753,NM_001148.6(ANK2):c.4248+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113360880:T:C,ANK2,VCV003338731,3338731,NM_001148.6(ANK2):c.10739T>C (p.Leu3580Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113302840:G:A,ANK2,VCV003337796,3337796,NM_001148.6(ANK2):c.2548+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113357732:TG:T,ANK2,VCV003119609,3119609,NM_001148.6(ANK2):c.9115del (p.Asp3039fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113363349:G:T,ANK2,VCV003068471,3068471,NM_001148.6(ANK2):c.10768G>T (p.Glu3590Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113354752:CAG:C,ANK2,VCV003030812,3030812,NM_001148.6(ANK2):c.6138_6139del (p.Asn2047fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113357778:GC:G,ANK2,VCV002861152,2861152,NM_001148.6(ANK2):c.9162del (p.Phe3055fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113343096:TC:T,ANK2,VCV002672177,2672177,NM_001148.6(ANK2):c.4203del (p.Phe1401fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113332043:T:TG,ANK2,VCV002576797,2576797,NM_001148.6(ANK2):c.3201dup (p.Pro1068fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113330297:CAG:C,ANK2,VCV002575852,2575852,NM_001148.6(ANK2):c.2954_2955del (p.Arg985fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113373350:GC:TT,ANK2,VCV002565317,2565317,NM_001148.6(ANK2):c.11760_11761delinsTT (p.Gln3921Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113292416:AACGGCTAC:A,ANK2,VCV002544521,2544521,NM_001148.6(ANK2):c.2282_2289del (p.Gly761fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113255780:G:T,ANK2,VCV002506786,2506786,NM_001148.6(ANK2):c.1036G>T (p.Glu346Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113355370:CAAAGA:C,ANK2,VCV002499788,2499788,NM_001148.6(ANK2):c.6757_6761del (p.Lys2252_Lys2253insTer),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113357802:G:T,ANK2,VCV002430081,2430081,NM_001148.6(ANK2):c.9184G>T (p.Glu3062Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113369632:C:T,ANK2,VCV002228433,2228433,NM_001148.6(ANK2):c.11437C>T (p.Gln3813Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113174449:AGAGCAGGCAACCTGGACAAAGTTGTGGAATATCTGAAGGGGGGCATAGACATCAATACCTGCAATCAGGTAAGAACATGGCAGCTAGCTCTGTGTTGTGCAACGAAGGAACACTCATTACATTCTCAGAGCCCAAGATTATTTTTGTCTTTATTAAAAATACTAAAATATCAGTGACTCAGACTTCTGAAATCCCATTTTTTGCCCCCTTACCAACTTTTCAAGTATCAGATGTTTGTATCTA:GAGCTAATGTTGCTGAAAAATTAGCTCC,ANK2,VCV002121821,2121821,NM_001148.6(ANK2):c.118_186+175delinsGAGCTAATGTTGCTGAAAAATTAGCTCC,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113358433:AT:A,ANK2,VCV002029441,2029441,NM_001148.6(ANK2):c.9817del (p.Ser3273fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113333109:C:CT,ANK2,VCV001729746,1729746,NM_001148.6(ANK2):c.3281dup (p.Val1095fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113242117:A:C,ANK2,VCV001695772,1695772,NM_001148.6(ANK2):c.799A>C (p.Ile267Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113117420:T:C,ANK2,VCV001678114,1678114,NM_001148.6(ANK2):c.85-56996T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113311281:G:T,ANK2,VCV001678112,1678112,NM_001148.6(ANK2):c.2575G>T (p.Gly859Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113359094:G:GAC,ANK2,VCV001483377,1483377,NM_001148.6(ANK2):c.10480_10481dup (p.Gln3494fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113311368:C:T,ANK2,VCV001334346,1334346,NM_001148.6(ANK2):c.2662C>T (p.Arg888Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113353994:AGG:A,ANK2,VCV001317290,1317290,NM_001148.6(ANK2):c.5377_5378del (p.Gly1793fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113330364:C:T,ANK2,VCV000985758,985758,NM_001148.6(ANK2):c.3019C>T (p.Arg1007Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113288387:G:A,ANK2,VCV000985336,985336,NM_001148.6(ANK2):c.2179-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113358977:CA:C,ANK2,VCV000985206,985206,NM_001148.6(ANK2):c.10360del (p.Arg3454fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113358096:G:T,ANK2,VCV000954568,954568,NM_001148.6(ANK2):c.9478G>T (p.Glu3160Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-4:113335953:CTGAT:C,ANK2,VCV000818077,818077,NM_001148.6(ANK2):c.3490_3493del (p.Ile1164fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-17:70175686:A:G,KCNJ2,VCV004788797,4788797,NM_000891.3(KCNJ2):c.647A>G (p.Asn216Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-17:70175387:CA:C,KCNJ2,VCV004784294,4784294,NM_000891.3(KCNJ2):c.351del (p.Glu118fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-17:70175596:C:G,KCNJ2,VCV004783746,4783746,NM_000891.3(KCNJ2):c.557C>G (p.Pro186Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-17:70176083:C:G,KCNJ2,VCV003755832,3755832,NM_000891.3(KCNJ2):c.1044C>G (p.Tyr348Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-17:70175308:T:G,KCNJ2,VCV003220886,3220886,NM_000891.3(KCNJ2):c.269T>G (p.Leu90Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-17:70175941:T:A,KCNJ2,VCV002682647,2682647,NM_000891.3(KCNJ2):c.902T>A (p.Met301Lys),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-17:70175271:G:A,KCNJ2,VCV002036326,2036326,NM_000891.3(KCNJ2):c.232G>A (p.Asp78Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-17:70175263:C:A,KCNJ2,VCV002020840,2020840,NM_000891.3(KCNJ2):c.224C>A (p.Thr75Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-17:70175464:C:T,KCNJ2,VCV001739158,1739158,NM_000891.3(KCNJ2):c.425C>T (p.Thr142Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-17:70175685:A:T,KCNJ2,VCV001496231,1496231,NM_000891.3(KCNJ2):c.646A>T (p.Asn216Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-17:70175676:C:G,KCNJ2,VCV000995608,995608,NM_000891.3(KCNJ2):c.637C>G (p.Arg213Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-17:70175977:GCTCTTA:G,KCNJ2,VCV000981438,981438,NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-17:70175756:AG:A,KCNJ2,VCV000960380,960380,NM_000891.3(KCNJ2):c.721del (p.Glu241fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-17:70170729:ACTTGTTAGCGTTTTCCTGCTCACTTCCAAATGTTTCATTTCTATTTGCCATTATCTGGAAAAATCCTGGTGCTCAGAAGGGGTAAGAGATGTTAATTGAAGCATGGTGGAAAGGGTGAGGATAAGGTCAAGGCCATTTTACTTAGCTTCCTCCTCTCTCATATTTTAATGACACTTTATTTTTTAATGTTCTTGGTCTCCATAAGAAATATTTGATCTAAACTCATGTGAATTTTGCTTTTAAAAAAAATAAAAGAACACAGTCTTTCTACATCCTTTGGATTCCTGAGTTGTAGAATCTCTGGTTAGCTGTAGCGTCCTTGTATGACTTTTGCGTAGCCTGAAAGATTGAAAACAGCTACCTGCACAGATTAAGTGTTTCAGATTTTTTTAAGTGTATATTTTTATTTACCAAACATGTCTGTTTTTCAGCGTATGCAAATGCTGAGCAGTGCTACAAGCCAAGTGTCGTTGAGTATAAATGTTAGACAGGGGGCTCACACGTAGATAGATGGGTATCCCCCTCCCCTCCCCACTTCCCCCTCCTCCTCCCTCATGTTTATTGAGCTTCTAAGAGGCTGCTTTCCTAGCAGTTGTGCTCACATAGCAACATGTGCCCAGAGCACACTCAGGCTGTTCTATATGGCGTCAGCTGGGGAATAGCTGCTCTAAACACTCATTAGCAGACCTCTCTCTCAGCCCAGTACGTTTTCTTTTGCTATCTTTATTTCCTATCCTTAGAAACTTTCTTATTTATTGCACACCATGACCATATTACAGGACACATTTACTCTCATTTGATTTTTTTTTTTAGTTATTTATAAGCCATATTGGAAGTATTACCTATATAGTCAAAGCAATTTAGATCCCCCATTTGTACCATGTGATCTCCTTGACCTTACATTTATCCATAGCTCTTTCTCCTTTAACATCTACCTAAGTTTAAAACGCTGAACTATTTTTTTCCATTGCTTATGCTTAATTTTGGCTCAGCCTATAAATAGTCTTAACATGAACAGCACCACATGTAACCTCTCAATTTCCCAAAAATACTTTCTACATCATGGGTTATGGCCTGGATAAAAATGATTATTTGTGTCCATGAAATTTACATCTAGACCCTTAAATATTTTGGCTGGAAGGGAGATTTACACATTGTTCATCAAATCAAATTTCAATTCTCTGGATTTGTATCACTTAGTGTTCTCATCTACTCCTCATTGATTGCATCTCAAACATTATTTTGAATATATGCTTGAAATAAAGTTGCATGTAAGCCCTGTTTTTTTAATGATAGCTTTTCTCAGCTGCTCACGAATTGGTAATTGCTAGTGAGAGGACCGGGCAAGGAAGTTTTCTGCTTGCTTAAAGTCGCTCAGGCATGTGGGCAGGTTAACAGTAAAAGCAATTTTTACCATGAAATATTAAGACCGTTACCCCATCAAACCTTGACAGGTTCTAGACTTTAGCTATGTAATCAGCTCCACAAAAAGTCTGCATACATATATGTGTGTGCACCTGCATACACACATAAATCTGTTTGGGGGCATATCTATTTAAAGTGGCAAAAGTTTTCTTTTTGCCAAAAAAAAAAAAAAAAAAAAAAAAAGCCCAAAACTCCTCTTTTTCTCTTTCCAGGAAGAAATGGTAAAATTTCTAAATGATGCTCCACATGTGGAACAAATTCTGTTATTAGCAATGGAAATAAGACAATAATAGTCTCTCAATACAGGCTACTTTCAAGATTCTAAATGTGGAAAGCTATTCATAGGAAGCTGGTATTGTGTGATTTGTGGAATTCAAACAAATGTCCTGGGGTCAAGATTTTTGGAAAGTCATAATTCAGTCTTTAGATTTCATATGGTTGTTATGTTTTAATCTGGAAGGAGTACAGAAATAAGTCAGAAGAAATTTGAGACTGTCTACTCATGGCCCCTAATGGTAACTCACATGGAAGGATTGTTTTGAATCATGAAAAGGGAATTTCTTGGTGTCAGCTTATAATACAAAGTTCTGAAGTCAATCAGAACTCAAAAATACAAAGCATTCATTGAATGAAGTTCTTCTCCTTTTTTTGAAACGTATACCTGCGTTTGGTGTTGTTGCTGTCTCTGTCTGTTTAGTAATGTGAGAAAACTAAGATGAAATAATTGCTTAAAAAATGCTGTCCATGTACAGGATCTAGAACTTCGAGGGGCAGGATTCTTGTTTCTTTGGTCCAAGTGCAAACTTCACAGGGAAGCAGACAAAACATTGAAGCAGGTGGAAGGTTAGGAAAGCACAGTAACTTCTTTTTATAAAGTAATTCAAAGGCACTTTCAAACTGAGCATCATTTAGGTGTCAAAAGCTGCCAAAATGTAACACACATTGCAATTTTCAAAGATGACTAATCTCAGGAAAAATGTGTTGGGGCACATTCTTGCATAATAACTTGGATAAAGAAGAAGTCAAAAGACAGTAACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCACTATTCTATTTGTAGGTGGGAATCTGACTTTCTTCCTCTAGCATTTCGTCAGCCTATCCGGTCTGCTCAGTTATATCATTTAAACAAAATAGTCTGTCTTCCGATTTCAACCTTGCCATCAGGGACTCTAATATTCTCCCGTAATGCACATGCAACTCAGTGGATATCAATGCTGCGTCCACGTGAAGTTTTCTAAACATGTCCTTTTTCCAAAAATTTTACGACAAACCTTGGAATCAGACAGTCTTTCATCTGCTTAACAGGGATCCTAGCAAGTGGGGCAGGCAGAAGAAGAGAATAAGAGAAGGGAGAGGTAGACCTGAACAATAGAATATTCTAGATCCCTGGCCAAAAAGAAGGGAAAGGGGACCTGACCTGACATTTTGGTTGAACAACTGTCACAGACAACTCTTCTATGTTTAACGACTTTATGCTTTTAAATAAAAGTTTTACAAAGCATGCTTAGGATACAAAGAAATTTAAAACCTTATAATTTAATGTAAATTATACTTATCTTTACCTGATTATGTGTTTTTGTTAGGATATATTGTCTTAGACAGTAGAATTCTTTAAGAGTGGCTTATTTTGTAATGCACAGTCTCTCTTTTCTTGCAGGACATGTTCTCTGGATGTCAGCTGAGTCATTAAAGTAACTCTGCATGTCAGTAGACAGACCTTGGTAGAACCACAAGGCTCCCAGAGACACCCATCTCTCCTCATTTTTTTGGTGTGTGTGTCTTCACCGAACATTCAAAACTGTTTCTCCAAAGCGTTTTGCAAAAACTCAGACTGTTTTCCAAAGCAGAAGCACTGGAGTCCCCAGCAGAAGCGATGGGCAGTGTGCGAACCAACCGCTACAGCATCGTCTCTTCAGAAGAAGACGGTATGAAGTTGGCCACCATGGCAGTTGCAAATGGCTTTGGGAACGGGAAGAGTAAAGTCCACACCCGACAACAGTGCAGGAGCCGCTTTGTGAAGAAAGATGGCCACTGTAATGTTCAGTTCATCAATGTGGGTGAGAAGGGGCAACGGTACCTCGCAGACATCTTCACCACGTGTGTGGACATTCGCTGGCGGTGGATGCTGGTTATCTTCTGCCTGGCTTTCGTCCTGTCATGGCTGTTTTTTGGCTGTGTGTTTTGGTTGATAGCTCTGCTCCATGGGGACCTGGATGCATCCAAAGAGGGCAAAGCTTGTGTGTCCGAGGTCAACAGCTTCACGGCTGCCTTCCTCTTCTCCATTGAGACCCAGAC:A,KCNJ2,VCV000946743,946743,NM_000891.3(KCNJ2):c.-217+1029_422del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-17:70175473:A:G,KCNJ2,VCV000858285,858285,NM_000891.3(KCNJ2):c.434A>G (p.Tyr145Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-17:70175563:T:TCATTGG,KCNJ2,VCV000801410,801410,NM_000891.3(KCNJ2):c.526_531dup (p.Ile176_Gly177dup),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-17:70175935:A:G,KCNJ2,VCV000689769,689769,NM_000891.3(KCNJ2):c.896A>G (p.Glu299Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-17:70175596:C:A,KCNJ2,VCV000652820,652820,NM_000891.3(KCNJ2):c.557C>A (p.Pro186Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-17:70176139:TC:T,KCNJ2,VCV000569363,569363,NM_000891.3(KCNJ2):c.1102del (p.Leu368fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-17:70175704:T:C,KCNJ2,VCV000546134,546134,NM_000891.3(KCNJ2):c.665T>C (p.Leu222Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-17:70175194:G:T,KCNJ2,VCV000523694,523694,NM_000891.3(KCNJ2):c.155G>T (p.Gly52Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-17:70175692:G:C,KCNJ2,VCV000430545,430545,NM_000891.3(KCNJ2):c.653G>C (p.Arg218Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-17:70175604:A:G,KCNJ2,VCV000429589,429589,NM_000891.3(KCNJ2):c.565A>G (p.Arg189Gly),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-15:73323225:CTCCGGGAGTCCCAGGCCTCCCCGGGCCCCGGGTGGCGCGGGAGATGGCTGGGCAGCCTGCGGGGAGCGGGCGCCTGGCTGCAGCGGGGTGAGCAGGGGAGAGTCGGAGGAGGACAGGGAGCCACCCAGCGCCTTGTGGAAGTGGCCAAACCCGGCTATGGTGGTGGCGGCTACGCCAGCTGATGGTGTGGGAGCCGAGGGGGAGCCACAGGCCCCGGGGGGTGGGGAGGAGCTGGATGAGGGCAGGAGTGGGCTCAGTCCAGCGGGGGCAGAGAATCCAGCCAGCTGTTGGATGTGGAAGGAGGATGAAGACGGTGTGTCCACCTGGGACGGGCTGCTGGCGGGCGAGGCGGAGCCCAGCGCAGAAGGGATCAGGGACTGCAGCCGTTTCAGGTGCCTTGGCGTCTGCCCGGCACCGAGGTTGCCCAGCCCAGATCCTGGGGGAGGGCGGAAGATGGCAGCAGGCAGGCGAGGGTGGTGGGTGAGGGCTATGGCCACAGAAGTGGTGGCAGCGGCAGCCTGCAGTGGTGCCTGGATCAGCGGGGTCCAGATGACGGGCGTGGGGGTTGGGGTGGCAGAGGCAGCAGCCTGGACGCGGTGCGCGCAGTGGGCCATCTCCCGGTCATGCTGCACAATCTGCTGGATGATCTCATTCTCCTGGTAGTTGAAGACGCCGGAGTTGAGGTCGTGCTGGACTTTGTGGAGGAGGATGGAGTTCTTCTTGCCTGGGCCACAGAACAAGAACAGGCACTCAGGGCAGAGCGGGGAAGGAGATCAGGTGCAGACCTGGCTTAGGCATAAAGGAGCCCTGCCCTCCTCCCCCAACACCCCCCACCTGCCCCGCCTGTGGCCCCTCCCCCTCACCAATGCGGTCCAGGCGGTCCAGCGCCACGGTCTCGAAGGCCCTTCGCATCATGGGGTACTCCTCCAGCACCTCATTGAAGTTGTCCACGCTCAGCGAGTAGAGGCGGCAGTAGGTGTCGGCCCTCACGCTGGCTGTGCGCCGGCCCCGGGTCAGCAGGCAGATCTCTGCCAGAGCATCAGGACTCAGGATGAGGCATGCACAGCCTGCCCAGGCCAGGGGGACTGCCCACCCTGACCTTGGCCCTGACTGCCTGGCACAGAAGCCTTGGCAGGCTCACAAGGCCCTGCCCCCAGACTGCGGCCACACTGGATGCCTCTTCCCCACCAAATGGGGGCTGGACAGACTTTCCCATCTTTGGGACATACCCTCTGCTCTGGACTGAATGTGTTCCCCCAAAATTTATATGTTGAACCCCTAATCCCAGCATGATGGTATTTGGAGGTGGGGCCTAGGGAGGTGATTAGATCACGAGGGTGGAGCCCTCGTGGATGGAATTAGTGCCTTTTTAGGAGGAGGCCGGGGAGCTGGCTCATCCTCCTTCTGCCACATGAGGACACAGCGAGAAGTCAGCAGTGCAGCCCAGAAGAGGGCCCTCACCAGCCCCAACCATGCTGGCCCCCTCAGCTCAGATGGCCAGCCTCCAGAACCATGACACATACATTTCTGCAGTTTACAAGCCACCCAGTCTGCGGCACTTTTGTTACAAGAACCCAGACTGACTAAGACACCCCTACCCTGGGCTCACAGACACCTCCCTCCAGGCTGTGGCCAAGAAGGGTGCTCACTGCCTCTGTCCCCTCGGTATCTCCCCAAACCAGCCCCTGGGAGCAGCTGCCCTGTCCCCCAGGGCCCAGGGCTGCCTCACCTCCAAAGTAGGAGCCGTCGGCCAGCTTGGTCTCCTTGTTGCCCTTGGTGAGCACGCTGACCACGCCATGCTGGATGAAGTACATCTTCTTGCCAATGGTGCCTTCCCGGATGATGTAGTCCCCAGGCTGGAAGACCTCGAAACGCAGCTTGGTCAGCATGGACGTCACGAAGTTGGGGTCCGCATTGGCAAACAGTGGCATGGAGGCCACCAGCTTCCGACAGTTAAAGTTGATGATCTCCTGCCGGACAGGGTGGATTGGGACACGGGAAGGAGGTGGTGAGGGGAGCTGGCTGCCAGGAAGGCCTGGCTCCCCTCCACGCCGGGCCGCCACACAGCTCACCTCCCGCAGGGGCTCGCTTAGCTCGCCCAGGATGCTCTCCTCGTCGAACATCTTGCCCTGGTAGCGGTGCTCGTAGTAGTCGTGGATGCGCTGCCGGGTGTCGGGCGGGAGCTTGTGAAAGGACATGTACTGCTCCACCTGCTTGTACTGAGGCCGGGAGAAGGGGGCGTCAGCTCCACCCCACCAGGGGGCGTCAGCAGCCAGCCCCACCACCTCGGCAGGCACCACATCCGGGCACCCACCCCGGGGGATTTCCTGGCTAAACTTGGTTCCTTGAGATCTGAGGTCTACAGTGTGGAAATGACCTCACTGTGCTCAAAACAACTGCCCGGGCTCCCAGCTGCTTGGCATGGAGGAGGGGCCCCCACCAGCATCTGCTCCTCGCTGTGTTCAATACTAAGGAGGTGGGTGAGGGCGGCAGGGAATGTCCAAAGCCCAGTGACAGGACATCAACTGTATCTCCAGGGAGGTCGATCACATTTCCTTGGAATGTTACACTGGGGACAGGGAGGCCTCACCGACTCTGCGGGGAAAGAAGCTGTTTCCTCCCAGCAGTGACAACTGGCACAGTCAGGAGGCAAGGGTGCGATGGATCAGAACGCTCAGAGGCAGAAGCAAGGATGCCTGGCTGCTCGATGCTATGAATCCAAACGTGGCCTCAGCTGAGACCCCGGGTCATTTCGTTGAGAGCAACTCCAGGTAAGGGAAAAGCAGGGTAGACTAATTTGAGGGGACCTTCAAATAGAGGCTCGGGTACAAAAGATTTGTGAGCCTCAGACCCTGGGGCTCAAACAAATAAGAAACGATCCTGCCCGCCCTCACTGAGAGGAGTGGACATTGCTCCCACCATCCTAGATTGTGGGTGGACAGTGGGATTCCCAAGAGCAGGATGAGGGATGGGAGGTATTGATTAGGCAACAACACAGACTCCTCCCGGATGGGAAGTAGAGGAAGTCCCTATCACCCCAGCAGCAATCAGAAACGGGGCAGCCTGTTTGCATCTATGTGTGCTCCAAAGAGGTGGGAACGCACAACTGCTGCACAGAAACACCCACGGGCAAATGAGGGCTGAGAAATGACATTTCCTAAACTTCTTCCAGCCACCCTGGCCTCTGACTGCTCCAAGTTATGCAAAGTCCCAGGGGACAGTGACTTCCTGGCTGGTTACAGAGATGGAGGCAGCTGGAAAACCTGGAGCTGTGTTTTAGAGAGTCCCTCCCCTGACCCCCAGAGAACAGGTAGGGGTAGGGAGGCAGGGTCTGGACATGGGGCAGGAGTTAAAAGGTTGAAGTGGTCCAGGTGAGAGACAGACGTGGGGATGGAGAGGAGGGAAGACATTTAAGAGAAATTTATTGGGCAGACTTAGATATTAGCCAAAGGACAAACATTTTAAAGTCTCAAATGAAAAGCCACAGACGCCTTGACTCTGGCCCTAAAATAAACTCTGATGCATTTTCTTTTCTTTTTTTCTTTTTATTTATTTATTTATTTATTTATTTTTTTTGTTAAGACAGGGTCTCGTTGTGTTGCCTAGACTGGAGTGCAGTGATATGAACACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCGATTCTCCCATCTCAGCCTCCTAAACAGCTGGCACTATAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACAGGGTTTTGCCACGTTGCCCAGGCTGCTCTTGAACTCCTGGGCTCAAGAAATCAGCTCGCTTCAGCCTCTCAAAGTGCTGGGATTGCAGGCATGAGCCATCATGCCCAGCCTCCCAGACGCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGGGTGCAGTGGTGCAATCTTAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTGAGTAGCTGGGACTACAGGTGTGCACCACCACGCCCAGCTAATTTTTTTTTTACTTTTAGTAGGGATGAAGTT:C,HCN4,VCV004755562,4755562,NM_005477.3(HCN4):c.1591-1861_2867del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-15:73329730:C:T,HCN4,VCV002636206,2636206,NM_005477.3(HCN4):c.1433G>A (p.Cys478Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-15:73323574:G:GCGGA,HCN4,VCV002028837,2028837,NM_005477.3(HCN4):c.2515_2518dup (p.Ala840fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-15:73325193:C:G,HCN4,VCV001697968,1697968,NM_005477.3(HCN4):c.1740G>C (p.Glu580Asp),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-15:73329718:C:T,HCN4,VCV001675065,1675065,NM_005477.3(HCN4):c.1445G>A (p.Gly482Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-15:73343533:T:C,HCN4,VCV001359536,1359536,NM_005477.3(HCN4):c.1061A>G (p.Tyr354Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-15:73329692:C:G,HCN4,VCV000666148,666148,NM_005477.3(HCN4):c.1471G>C (p.Asp491His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-15:73324088:C:T,HCN4,VCV000470654,470654,NM_005477.3(HCN4):c.2143+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-15:73332261:G:C,HCN4,VCV000374861,374861,NM_005477.3(HCN4):c.1241C>G (p.Ala414Gly),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-15:73329722:A:G,HCN4,VCV000374860,374860,NM_005477.3(HCN4):c.1441T>C (p.Tyr481His),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-15:73329719:C:G,HCN4,VCV000374859,374859,NM_005477.3(HCN4):c.1444G>C (p.Gly482Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-15:73325000:T:TGGTGAGCACGCTG,HCN4,VCV000374858,374858,NM_005477.3(HCN4):c.1920_1932dup (p.Lys645fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2653892:G:A,CACNA1C,VCV004689845,4689845,NM_000719.7(CACNA1C):c.4132G>A (p.Gly1378Arg),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2457652:GC:G,CACNA1C,VCV004613766,4613766,NM_000719.7(CACNA1C):c.704del (p.Ala235fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2582847:C:T,CACNA1C,VCV004536255,4536255,NM_000719.7(CACNA1C):c.2129C>T (p.Ser710Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2567737:C:G,CACNA1C,VCV004531394,4531394,NM_000719.7(CACNA1C):c.1838C>G (p.Pro613Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2449015:G:C,CACNA1C,VCV004531392,4531392,NM_000719.7(CACNA1C):c.517G>C (p.Glu173Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2666696:A:G,CACNA1C,VCV004530641,4530641,NM_000719.7(CACNA1C):c.4537A>G (p.Lys1513Glu),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2567600:C:G,CACNA1C,VCV004292479,4292479,NM_000719.7(CACNA1C):c.1701C>G (p.Phe567Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2651688:C:T,CACNA1C,VCV004278773,4278773,NM_000719.7(CACNA1C):c.3994C>T (p.Arg1332Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2597290:G:T,CACNA1C,VCV004086502,4086502,NM_000719.7(CACNA1C):c.2853+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2486121:A:T,CACNA1C,VCV003897582,3897582,NM_000719.7(CACNA1C):c.775A>T (p.Asn259Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2593249:G:A,CACNA1C,VCV003894932,3894932,NM_000719.7(CACNA1C):c.2567G>A (p.Gly856Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2582943:G:C,CACNA1C,VCV003775665,3775665,NM_000719.7(CACNA1C):c.2224+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2512930:G:C,CACNA1C,VCV003718454,3718454,NM_000719.7(CACNA1C):c.1336G>C (p.Asp446His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2665673:TA:T,CACNA1C,VCV003600410,3600410,NM_000719.7(CACNA1C):c.4495del (p.Arg1499fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2605112:C:T,CACNA1C,VCV003573697,3573697,NM_000719.7(CACNA1C):c.2992C>T (p.Arg998Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2608531:ACT:A,CACNA1C,VCV003483968,3483968,NM_000719.7(CACNA1C):c.3379_3380del (p.Ser1127fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2120345:TACTG:T,CACNA1C,VCV003483966,3483966,NM_000719.7(CACNA1C):c.396_399del (p.Thr133fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2610590:TC:T,CACNA1C,VCV003393691,3393691,NM_000719.7(CACNA1C):c.3612del (p.Lys1205fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2486140:T:A,CACNA1C,VCV003392514,3392514,NM_000719.7(CACNA1C):c.794T>A (p.Met265Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2608641:G:A,CACNA1C,VCV003382973,3382973,NM_000719.7(CACNA1C):c.3487G>A (p.Gly1163Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2567731:T:C,CACNA1C,VCV003382740,3382740,NM_000719.7(CACNA1C):c.1832T>C (p.Met611Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2653855:CCTGAT:C,CACNA1C,VCV003377227,3377227,NM_000719.7(CACNA1C):c.4097_4101del (p.Leu1366fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2685745:C:A,CACNA1C,VCV003375805,3375805,NM_000719.7(CACNA1C):c.5583C>A (p.Tyr1861Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2664838:G:A,CACNA1C,VCV003370332,3370332,NM_000719.7(CACNA1C):c.4246G>A (p.Glu1416Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2448974:A:G,CACNA1C,VCV003252305,3252305,NM_000719.7(CACNA1C):c.478-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2595960:T:G,CACNA1C,VCV003069192,3069192,NM_000719.7(CACNA1C):c.2750T>G (p.Leu917Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2486134:A:T,CACNA1C,VCV003066281,3066281,NM_000719.7(CACNA1C):c.788A>T (p.Lys263Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2457680:C:G,CACNA1C,VCV003027509,3027509,NM_000719.7(CACNA1C):c.731C>G (p.Pro244Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2677138:C:T,CACNA1C,VCV002921274,2921274,NM_000719.7(CACNA1C):c.4873C>T (p.Gln1625Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2688546:C:T,CACNA1C,VCV002626971,2626971,NM_000719.7(CACNA1C):c.5884C>T (p.Arg1962Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2585498:T:G,CACNA1C,VCV002626927,2626927,NM_000719.7(CACNA1C):c.2460+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2504884:G:GT,CACNA1C,VCV002584438,2584438,NM_000719.7(CACNA1C):c.1158dup (p.Thr387fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2664824:G:A,CACNA1C,VCV002578446,2578446,NM_000719.7(CACNA1C):c.4233-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2486109:C:T,CACNA1C,VCV002577479,2577479,NM_000719.7(CACNA1C):c.763C>T (p.Gln255Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2653860:T:C,CACNA1C,VCV002575833,2575833,NM_000719.7(CACNA1C):c.4100T>C (p.Ile1367Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2120351:CTA:C,CACNA1C,VCV002506866,2506866,NM_000719.7(CACNA1C):c.400_401del (p.Ile134fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2486161:C:T,CACNA1C,VCV002504611,2504611,NM_000719.7(CACNA1C):c.815C>T (p.Ala272Val),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2512827:G:C,CACNA1C,VCV002504609,2504609,NM_000719.7(CACNA1C):c.1233G>C (p.Glu411Asp),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2582832:G:A,CACNA1C,VCV002501348,2501348,NM_000719.7(CACNA1C):c.2114G>A (p.Gly705Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2608677:CAGGA:C,CACNA1C,VCV002452672,2452672,NM_000719.7(CACNA1C):c.3524_3527del (p.Gln1175fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2679753:GC:G,CACNA1C,VCV002251969,2251969,NM_000719.7(CACNA1C):c.5403del (p.Ile1802fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2486116:T:C,CACNA1C,VCV001803055,1803055,NM_000719.7(CACNA1C):c.770T>C (p.Val257Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2677772:C:T,CACNA1C,VCV001744618,1744618,NM_000719.7(CACNA1C):c.4996C>T (p.Arg1666Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2688554:G:GC,CACNA1C,VCV001712194,1712194,NM_000719.7(CACNA1C):c.5897dup (p.Gln1967fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2655228:C:G,CACNA1C,VCV001705745,1705745,NM_000719.7(CACNA1C):c.4222C>G (p.Leu1408Val),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2581663:C:T,CACNA1C,VCV001705744,1705744,NM_000719.7(CACNA1C):c.1969C>T (p.Leu657Phe),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2665599:G:C,CACNA1C,VCV001700075,1700075,NM_000719.7(CACNA1C):c.4417G>C (p.Ala1473Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2634334:T:G,CACNA1C,VCV001699326,1699326,NM_000719.7(CACNA1C):c.3866T>G (p.Leu1289Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2504886:T:TA,CACNA1C,VCV001699036,1699036,NM_000719.7(CACNA1C):c.1159dup (p.Thr387fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2610588:C:G,CACNA1C,VCV001695801,1695801,NM_000719.7(CACNA1C):c.3606C>G (p.Tyr1202Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2567752:T:G,CACNA1C,VCV001685597,1685597,NM_000719.7(CACNA1C):c.1853T>G (p.Val618Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2449093:G:A,CACNA1C,VCV001685596,1685596,NM_000719.7(CACNA1C):c.595G>A (p.Asp199Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2504535:A:G,CACNA1C,VCV001344837,1344837,NM_001167623.2(CACNA1C):c.1213A>G (p.Ser405Gly),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2448994:T:C,CACNA1C,VCV001325838,1325838,NM_000719.7(CACNA1C):c.496T>C (p.Phe166Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2677868:G:A,CACNA1C,VCV001313855,1313855,NM_000719.7(CACNA1C):c.5091+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2608654:T:C,CACNA1C,VCV001309258,1309258,NM_000719.7(CACNA1C):c.3500T>C (p.Val1167Ala),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2608657:C:A,CACNA1C,VCV001303511,1303511,NM_000719.7(CACNA1C):c.3503C>A (p.Thr1168Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2504529:G:A,CACNA1C,VCV001302971,1302971,NM_001167623.2(CACNA1C):c.1207G>A (p.Val403Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2605121:C:T,CACNA1C,VCV001302480,1302480,NM_000719.7(CACNA1C):c.3001C>T (p.Arg1001Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2651679:C:T,CACNA1C,VCV001214422,1214422,NM_000719.7(CACNA1C):c.3985C>T (p.Arg1329Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2653847:G:T,CACNA1C,VCV001164022,1164022,NM_000719.7(CACNA1C):c.4087G>T (p.Val1363Leu),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2581667:T:C,CACNA1C,VCV000981247,981247,NM_000719.7(CACNA1C):c.1973T>C (p.Leu658Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2512849:G:C,CACNA1C,VCV000978295,978295,NM_000719.7(CACNA1C):c.1255G>C (p.Gly419Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2053592:TC:T,CACNA1C,VCV000978276,978276,NM_000719.7(CACNA1C):c.32del (p.Pro11fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2457671:T:C,CACNA1C,VCV000973262,973262,NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2493386:G:A,CACNA1C,VCV000802809,802809,NM_000719.7(CACNA1C):c.1113G>A (p.Trp371Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2665607:C:G,CACNA1C,VCV000633648,633648,NM_000719.7(CACNA1C):c.4425C>G (p.Ile1475Met),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2567644:C:A,CACNA1C,VCV000633647,633647,NM_000719.7(CACNA1C):c.1745C>A (p.Ala582Asp),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2653847:G:C,CACNA1C,VCV000522828,522828,NM_000719.7(CACNA1C):c.4087G>C (p.Val1363Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2566522:A:G,CACNA1C,VCV000521136,521136,NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2605097:G:C,CACNA1C,VCV000450908,450908,NM_000719.7(CACNA1C):c.2977G>C (p.Val993Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2653847:G:A,CACNA1C,VCV000450063,450063,NM_000719.7(CACNA1C):c.4087G>A (p.Val1363Met),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-12:2610700:G:GA,CACNA1C,VCV000432248,432248,NM_000719.7(CACNA1C):c.3717+1_3717+2insA,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
-7:82167142:AAGAAATATTGCACAGATGCACATTGTTAAATACCTTAAAAGATAAAAGAATTATAAAGTTTAAAAGAAGGACCTTTTGAAAGATGATAAAATTTATCTTCAAATTAACCATTTTTAAATGTTTGGTTAAAATATTGAGAAAATTTACAATTGTTTTGTGTGCTTTCACAAAACAAGAGATTTAATGTTAATGATTTATAAGTTTCAACCACGAATTTGAACTGTATTCTGCTCTGGTCTTGAAGGATTTATTTAACCTTGCTGTATCTGTGCACTAAAGCACCACCTAGTTTATTAGGAACAAAAAAAAAGCTGAGAGGAATGTATTATTTTTGTACTTTTTACTTATTTGAGTCTTAAGATTAGATAGTCTTCATTGAGGTTCTATTCTCCAAGCACAAAAACGACCACTATCTAAACCTTCTATCACTCTATGGCATTTCAAAGGGAAGGGCTATCATAAAGACTATGTATGGCTGCCAAGGTTAGATATGGGAAATAGCAATTCTCAATGTGCAAACTGTGACAGACCTGTGTCCTGTCAACATCATTCACGGTCCTTCAGGAAGGATGCTCAGGAAATGAGTTGACAGGACTCTAAGTGGTCTAACTTGTTTTCCCTTTAACAGTCTCTTTTGATGTCAATCAGTATGTCAACAGGCCCTAAATAAATTGTGAGGTAACCAAGGGGGAAATTAGGAACAGAATTTCTTCAAGAATTCTCCCACATGGTGACCACCATTTGCTAAGAATTCCTAATACTTACTGGGCAAATAATTCATTTTCTATTTCACCATAGAAGATTTAGTAATGGCTTTTGTATTATTGTGGGACTGATTTGTCCTCTTGCACAATGTTTTTTTAGCAGTACTGCTACTTGGATAGAGGCACCAAAAAAGTAGAAAATAAGGGTTACATTTCAAGATAATTTTTTTCACTTTTTGACATCTCTAAGAATACAGCATACAATTGCTGATGCATCATAATTTAAGTGGCTTTTTTGGTGGGGGCTTGGGGGAGATGAGGTCTCTCTCTGTTGCCCAGGCTGGAGTAGTACAGTGTCATGATCTTGGCTCACTGCACCCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTACCAAGTAGCTGGGATTACAGGCATGCACCACCACGCACAGCTAATTTTTGTATTTTTAGTGGAGATAGGGTTTCTCCATGTTGACAAGGCTGGTTTTGAACTTCTGGCCTAAAGTAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACCATGCCCGGCCAAGTGGCTTTTTCTTAGAAATAACTAAAATAAATAGAATGACTAAGTGCCTTACAATTGATGATTTACATTCAATAAAATATGGTAATAGCAAACTTGAATTTAGAGTTTTTGTATTGTGTTTGTGTTGTGGTTACCCATTACCTCAATATAGAAAACAAAATAATTGCCAAATGTTAGTGTTAATGAGCCCAATATTAAAGAGTTCACAATGTCTAGGAAATGAAACCTTATGTCTAGAAATTAATAAATAATAGTTAAATGAAACAACAATGATATAGGCATTACTACAACCCTACTTGCCAAGTTATTTTTTTCCACATTATTGCTCTTTAGAAAAGTGAAAACAACATACAACTAATAAATGACTACTTAAAATACTACCAAATGAATTTAAGGCAAAGAAAAAGGGTGCTTTGAACAGGGAATGTATAATCTATATATTTCAGAGGCTGAGTTTGTGTGTCTGTTTTGAGTTCTCCGAATTACTGAAGATTCAAACTAAAACAGCACCAAGGGTATTATATCTATGCTAGGCAGAATACATGATCTAGCCATACATCTATTATGACTTTACACTGCTTTTACCATGCACGCTTTATGTTGTGGGACATAAGGGAAGAGTAATTTATATTTAATGTTGTTAATCAAACATATATTTAGCTAGATTTGTTTTGCTGCTTTTTCCCTATTTGCAAAAACAAAAAAAATCGTTTTTATCTAAAAGCAACTAAGTATATTGTAAGCCTCTTCATTCACTAGATGAGCTTACAGTTTGCTCGATGCTCTAGGAGCTTATGTTTTTAGCTTAATCATTGATTTTTTCCTTAATATATCATGGATAGCAAATTGATCTTTATTAACCTGTGTATGATAAAGGTTGTAGACAAAGCCAATACCTACATAATATTAATACCAATCAAGTTAAGTGATATGATCAGTTCAGTAGAGAATCAAACAAACTGGCAGTTGTCAAATAGAGTCTCTCATTAGTAGACTGTTTAAAATATATAAATAAGTGATAAACAGTAAAAATAAATAATATCACAAGTATCAAGAATGGAAGACTATTATATACATGAATTAAATATCATTTAGTGCATTTTCCTTTGATATTCAACATAATCATAGAAACACAAAGAAGTGCTAATTCTTAAACCTCAGTTTAGTGTCTACTGAAGCACAACTACATACCTTCAAATTTGAGACTTTTGCTTTGCAAAGAGTACAATTAAGCTGTCGCTCACATTCTAAACCTATTTTAAATGTGGGAAGGTAGAGGGCAGTTGTTTACATCCCCAAAATGAGTTGTCTGGAAGTTTTCTGTGATCAGAAATTATAAAGATTTTCTTTCACTACAACTGTAATCACTCAAGTATGTAACAGAAGTACTTTCTGATTATTAAGGAATTTTTTTTTTTTTACTGTGCCCCTTGGCTATAAGAGGATAGATAAATGATAGATATGCAGACCTTACCACAAGGAGAATTTCTGCTATTTCTATAAACTAGTAACTCTTAGTTCATAAAACAAGTTTATTAAGAAAAAAAAAACATGCAACCGCTAATGTCAGCTGACATTTCTCAAAGTAGGCCAGAGTAGAAGAGAGATTACTTCTAGCTAAAGTGAAGCAAATTAAATTTTAAGAAGTTGAATATATTCATTCTCACTTTCATCATATTGCCCACCATCAAGGTGATTATAATATGTATACTGCTTCTTACAAACTCAAAGTAGTTAAAAGCAACTTTTTCCAACTTGTATATTCATAATATCGACAAAAATTATTCAGATATTAAAATTTAATGCTATTTTTAATGTATTTTATAAATAATGTACCTTTAATTATGGGAGAACATTTCAAGGGTTTTAAAGGGTTTTTTGGTTTTTGTTTTTTTTTGGTAATATGGAACATAAAGTACATTTTGGCTAACTTAATTGGCCCTGATTACCCAAAAGCAATTTATTTAAAAAGCAACAAGTATGATTATTTTTAATCCCACAACATCATAAGATTCCATCATTAAAATATATTTTAATATGCATGTAATTATCCATACACAATATGTCAAGCTATTTAAATCAAGTAGTTAAAAGGGGTTCTTACTGCAAAATCTTCTCTCCACTGGTGAGCTGCTTGAACTTTCTCCGCTTCCAATGCCAGGCGCTGAAAAACAAACAATAAATCTTAGAATTCAAATGAACACGTAATATGGAATTGTTATATAAAATGCTTGCGCTTTCTAATCAATTTTGAGGACATAAAAAGCAGAAGATGATCCTTATTTATGATTCATAAATTCTAAATCATTTAGTAATCTAACCTACTAAAGTTGATGTTTGTATATTTACTCTTCAGCAATATAAATAATATACTATTCTTGAATACCATTAAGTTTGTTACCTCTGCCATCATCAGCTATAGTGTCCTCTATGAGTGCTTTCTTTCAATGACTAATACTTCAGTTTTTAGAAAAACACTTAAGTATACTAATTTTCATAGAATCTTATTTTTAGTAAATACCTTTGGAGCATACATTTCTCTTAAAAAATGACATTGAGAGATTAATATGCACTAAACAATATACTAGGCACCTTCTTAAATGCATATTGAGTTTTTACCAAAAGCCACAAAAGCTGAAATAACTTCCCCTTTGATGAAGTACATCTTTAGTAGTTCTTTCAGCGATAATCTTTGATAGAGGATTTGTGCATCTTAAAATTGCTTTATTTCACCTTCAATCGTGTATGCTAAAGTAGTTAAGAATTATAAGCCAATTTATTTTCCTATAGCACTTTCGAAATGCTATTCCATTAAGTTCAGTGGGAGATGACATTGCTAGTGTCAGCCTGCCAATCACTTTTTATAAACTTTTTTTTCCCCTATTCCAATAGCTTTTAGACTTTTCTCTTTGTATTTTTCAACTTCACTATGATGTTCTCCATGTGATAGGCTTTCATAAGACAGTGACATTTAATGGTTAGGAACACAGAGTTGGGGACCCGACTGCCTAGATTTGAATATCAGCCCTTGCAAACTACTAGCTGTGCAACCTTGGGAAAAGTTAAGACTCTTCTCCCATTCTCTCATGTGAGTAATGTGAAAGCCTGCCTCATGGCTTATTGGAAGGACTAAATGAGTTACAAAGTGCTTAGAACAGTGCCTGGCACAAACTAAACAATATATATGTCAACTATCAACTTCAAAGAGTAATGGTTCTGTTTTCTCCCTGGATCCCCTAGAGAAAATAGTGCAGTGTTGAGTTTATTTGTGGTTTGCCTTATGCAGCTAGAAGATAGTGATAAAACTGAGCAAACAGAAAAGTAAATATAATAAATATACTAAACTCACTTATTAAGGTATAGAAATTATCAGGTTAGGTTTAAAAAATTACAAATCTCAGAGTCATTTATTGATTCATGCTGTTTGTGATCTATGAACTATTCCTTAGCGTAAGTTCTTCCTGTGGAGGTCCAGTCTACACTGGATAAACATCCTTCTAGACCAGTTTTTATATTAATGTATTGGCTTCTATCCCTGTGATTATAATCTATTCATTTTTCTAAGCTGTTGCATAGGTTTTATCAGTGACTCTATAATATTGCCTAGTGGGAGATCTCAATTTAAGAGTCCCAAAGCTAAATTTAAGTGAAAATCTATCATAGTGTGCCAAAAGGACAATGGTTTTGTTTTTCACTACTAGGTAGAAATGGAGTATATAAGAAGCTAGGAAATGTTAGAAATTGTACCACATAGAGTAACCAAAAGGCGGCTCCCTCTCCCTACAAAAACAAAAAACTAAGCAGCAAAGCCAAAAGACAAGCATATACATTTCAGGAACACTGCATCATAATACTTTTAGAAACTCAACTTCACATGAAAAATGAAGCAAAACATGAATAAAATGGCAAAAGGAATGGAAATGGAAGCAACTCTTCTATAGAAACACTTCAGTATGGGAAGATAAGGAAAGAGAAGATAGAATGAGAAAATAAGCATGAAGGCTTTTTCTTTTTTTCTTTGTTTTGATATAGGGTCTCACTCTGTCTCCCAGCCTGGAGTACAGTGGTGCAATCATAGCTCCCTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCTAAGTAGCTGGGACTACAGGTTTGCATCAAGAAACCCGGCTTTTTTTTTTTTTTTTTTTTTTTTGGTAAAGATGGGGTCTCAAACTCCTAGCCTCAAATTATCCTCCTATCTC:A,CACNA2D1,VCV004277370,4277370,NM_000722.4(CACNA2D1):c.295-2080_354+3407del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada,gene_context_fallback,1,-0.0,Brugada,provocation_dependent,0.8,limited,0.25,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:82084801:C:T,CACNA2D1,VCV001802181,1802181,NM_000722.4(CACNA2D1):c.626G>A (p.Gly209Asp),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada,gene_context_fallback,1,-0.0,Brugada,provocation_dependent,0.8,limited,0.25,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:82060485:T:TGTTC,CACNA2D1,VCV001802179,1802179,NM_000722.4(CACNA2D1):c.818_821dup (p.Ser275fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada,gene_context_fallback,1,-0.0,Brugada,provocation_dependent,0.8,limited,0.25,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
-7:91993050:C:T,AKAP9,VCV004687971,4687971,NM_005751.5(AKAP9):c.571C>T (p.Gln191Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,limited,0.25,dominant,scaffolding,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+variant_key,gene,clinvar_id,variation_id,title,clinsig,review_status,review_strength,review_score,submitter_count,submitter_count_source,match_category,frequency_evidence_status,variant_type,functional_class,global_af,global_ac,global_an,popmax_af,popmax_ac,popmax_population,popmax_global_ratio,max_frequency_signal,max_frequency_source,qualifying_frequency_ac,standard_acmg_frequency_flag,standard_acmg_high_frequency_flag,popmax_only_frequency_flag,frequency_signal_ac_ge_20,weak_review_signal,gene_frequency_constraint_proxy,technical_detectability_index,frequency_pressure_score,ac_reliability_score,popmax_enrichment_score,variant_type_tension_score,technical_detectability_score,gene_constraint_score,review_fragility_score,vital_score,vital_band,vital_red_flag,predicted_revision_direction,vital_signal_reason,variation_id_key,vcv_key,condition_from_variation_id,condition_from_vcv,condition_labels,condition_label_join_source,log10_global_af,log10_popmax_af,log10_popmax_global_ratio,allele_anchoring_state,allele_identity_score,condition_groups,condition_context_source,condition_count,condition_entropy,condition_group_primary,phenotype_environment,phenotype_detectability_score,curation_tier,gene_disease_validity_score,inheritance_model,mechanism_class,sads_gene_context_flag,collision_prone_gene_flag,sads_label_flag,sads_relevance_score,ancestry_concentrated_flag,max_credible_af,af_boundary_distance,penetrance_boundary_flag,hard_dominant_conflict_flag,disease_model_collision_flag,is_unanchored_assertion_state,is_disease_model_collision,is_sads_sensitive,is_ancestry_concentrated,is_penetrance_boundary,is_canonical_monogenic,primary_regime,regime_memberships
+3:38562456:G:A,SCN5A,VCV000440850,440850,NM_000335.4(SCN5A):c.[3919C>T;694G>A],Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,other_or_unresolved,0.0001464876505434,214.0,1460874.0,0.0056763862332695,190.0,afr,38.74992993923283,0.0056763862332695,popmax,214.0,True,True,False,True,True,0.6637931034482759,0.811340206185567,45.0,20.0,7.941354608142989,0.0,6.490721649484536,6.637931034482759,10.0,96.07000729211028,red_reclassification_priority,True,P/LP_to_VUS_or_B_review_recommended,popmax_AF_gt_1e-4; global_AF_gt_1e-5; AC_ge_20; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,440850,440850,,,,unmatched,-3.8341989864151462,-2.24592806189834,1.5882709216285977,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,1.75407193810166,False,True,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
+6:123438063:CT:C,TRDN,VCV001325231,1325231,NM_006073.4(TRDN):c.1050del (p.Glu351fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.774748677138568e-05,40.0,1441572.0,0.0002182135583357,9.0,amr,7.864263645544536,0.0002182135583357,popmax,40.0,True,True,False,True,True,0.390625,0.6043553875236295,30.124838998003188,20.0,4.478290322877946,3.0,4.834843100189036,3.90625,8.0,74.34422242107016,red_reclassification_priority,True,P/LP_to_VUS_or_B_review_recommended,popmax_AF_gt_1e-4; global_AF_gt_1e-5; AC_ge_20; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,1325231,1325231,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,-4.556776346982672,-3.6611182687456405,0.8956580645755892,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-0.6611182687456405,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision
+7:150950166:A:C,KCNH2,VCV004535537,4535537,NM_000238.4(KCNH2):c.2398+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.367018818211924e-05,24.0,549574.0,0.0001315270288044,2.0,asj,3.0118264259375755,0.0001315270288044,popmax,24.0,True,True,False,True,True,0.8263888888888888,0.811340206185567,25.177837788340284,20.0,2.3941496974878667,0.0,6.490721649484536,8.26388888888889,8.0,70.32659802420157,red_reclassification_priority,True,P/LP_to_VUS_or_B_review_recommended,popmax_AF_gt_1e-4; global_AF_gt_1e-5; AC_ge_20; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,4535537,4535537,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-4.3598149366273224,-3.880984990486817,0.47882993949757335,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,0.7210750008411452,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary
+10:18514531:G:T,CACNB2,VCV003774534,3774534,NM_201596.3(CACNB2):c.804+162G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,1.1632028310988434e-05,17.0,1461482.0,0.0001970877388239,17.0,sas,16.943538788860945,0.0001970877388239,popmax,17.0,True,True,False,False,True,0.25,0.811340206185567,29.129841204685352,18.987357242520268,6.145020606115558,0.0,6.490721649484536,2.5,8.0,71.25294070280572,orange_high_tension,False,,popmax_AF_gt_1e-4; global_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.25; detectability=0.81,3774534,3774534,Brugada syndrome 4,Brugada syndrome 4,Brugada syndrome 4,variation_id,-4.934344549462075,-3.7053403931064324,1.2290041212231118,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,limited,0.25,dominant,channelopathy,True,False,False,0.5,True,0.0001,0.2946596068935677,True,False,False,False,False,False,True,True,False,ancestry_concentrated,ancestry_concentrated|penetrance_boundary
+6:123547340:CT:C,TRDN,VCV001074440,1074440,NM_006073.4(TRDN):c.423del (p.Glu142fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.4587780046988007e-05,19.0,1302460.0,0.0001336541031809,3.0,amr,9.162058557802116,0.0001336541031809,popmax,19.0,True,True,False,False,False,0.390625,0.6043553875236295,25.33460173620717,19.67948888426708,4.809965315856219,3.0,4.834843100189036,3.90625,3.0,64.5651490365195,yellow_watchlist,False,,popmax_AF_gt_1e-4; global_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,1074440,1074440,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia,variation_id,-4.8360107935553724,-3.874017703862406,0.9619930631712437,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-0.8740177038624062,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision
+1:115701413:C:T,CASQ2,VCV002565185,2565185,NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.425131422292673e-06,5.0,1459798.0,0.0001495662578522,5.0,afr,43.667292358899566,0.0001495662578522,popmax,5.0,True,True,True,False,False,0.5125,0.811340206185567,26.43375668955885,11.770381108229664,8.200781319116079,0.0,6.490721649484536,5.125,3.0,61.02064076638913,yellow_watchlist,False,,popmax_AF_gt_1e-4; type=SNV; gene_constraint=0.51; detectability=0.81,2565185,2565185,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.46532275997258,-3.8251663722566325,1.6401562638232159,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-0.8251663722566326,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+7:150950197:A:G,KCNH2,VCV001027323,1027323,NM_000238.4(KCNH2):c.2369T>C (p.Leu790Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,7.213041178450639e-06,9.0,1247740.0,0.0002143163309044,1.0,mid,29.71233587745845,0.0002143163309044,popmax,1.0,True,True,True,False,False,0.8263888888888888,0.811340206185567,29.94874352029472,4.55340497393906,7.364683979114753,0.0,6.490721649484536,8.26388888888889,3.0,59.62144301172195,yellow_watchlist,False,,popmax_AF_gt_1e-4; type=SNV; gene_constraint=0.83; detectability=0.81,1027323,1027323,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,variation_id,-5.141881588463915,-3.668944734457764,1.4729367958229507,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,0.33105526554223597,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+6:123529317:C:T,TRDN,VCV002635811,2635811,NM_006073.4(TRDN):c.484+1189G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,5.012186774127951e-06,7.0,1396596.0,0.000112101339611,4.0,amr,22.36575037943466,0.000112101339611,popmax,4.0,True,True,True,False,True,0.390625,0.811340206185567,23.616243142180487,10.57267893638896,6.747917367491054,0.0,6.490721649484536,3.90625,8.0,59.33381109554504,yellow_watchlist,False,,popmax_AF_gt_1e-4; weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,2635811,2635811,TRDN-related disorder,TRDN-related disorder,TRDN-related disorder,variation_id,-5.299972753826775,-3.950389197554991,1.3495834734982108,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,True,0.001,-0.9503891975549911,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
+7:150948439:CTCA:C,KCNH2,VCV003076015,3076015,NM_000238.4(KCNH2):c.2692+2_2692+4del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,2.7727944499746288e-06,4.0,1442588.0,6.611424541607899e-05,3.0,fin,23.84389602799007,6.611424541607899e-05,popmax,3.0,True,False,True,False,True,0.8263888888888888,0.6043553875236295,18.456638672735043,9.10680994787812,6.886886097038535,3.0,4.834843100189036,8.26388888888889,8.0,58.54906670672962,yellow_watchlist,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3076015,3076015,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,-5.557082323913123,-4.179704954447291,1.377377219407707,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.17970495444729126,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+1:115705205:TC:T,CASQ2,VCV001766367,1766367,NM_001232.4(CASQ2):c.925del (p.Asp309fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.84958717538094e-07,1.0,1459942.0,0.0001734906315058,1.0,mid,253.28589121907208,0.0001734906315058,popmax,1.0,True,True,True,False,False,0.5125,0.6043553875236295,27.88371068312418,4.55340497393906,10.0,3.0,4.834843100189036,5.125,3.0,58.39695875725227,yellow_watchlist,False,,popmax_AF_gt_1e-4; type=deletion; gene_constraint=0.51; detectability=0.60,1766367,1766367,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.164335602647249,-3.760723972142199,2.403610998964032,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-0.7607239721421987,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+11:2587679:AG:A,KCNQ1,VCV001395670,1395670,NM_000218.3(KCNQ1):c.1239del (p.Lys414fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.737022748764577e-06,4.0,1461442.0,8.944543828264758e-05,4.0,amr,32.67981847911294,8.944543828264758e-05,popmax,4.0,True,False,True,False,False,0.6403508771929824,0.6043553875236295,21.41005952936268,10.57267893638896,7.571398177836384,3.0,4.834843100189036,6.4035087719298245,3.0,56.79248851570687,yellow_watchlist,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.64; detectability=0.60,1395670,1395670,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,-5.562721592936289,-4.048441803550404,1.5142796355672767,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.048441803550404505,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+6:123516188:TC:T,TRDN,VCV002682850,2682850,NM_006073.4(TRDN):c.502del (p.Glu168fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.751489341268484e-06,5.0,1332804.0,6.617783307303386e-05,5.0,sas,17.64041169053291,6.617783307303386e-05,popmax,5.0,True,False,True,False,True,0.390625,0.6043553875236295,18.46603235431506,11.770381108229664,6.232543582221728,3.0,4.834843100189036,3.90625,8.0,56.21005014495549,yellow_watchlist,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,2682850,2682850,,,,unmatched,-5.425796283129546,-4.179287457481868,1.2465087164443456,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.1792874574818677,False,False,True,False,True,True,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision|sads_sensitive
+6:123516150:C:A,TRDN,VCV001427034,1427034,NM_006073.4(TRDN):c.541G>T (p.Glu181Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.79663424697027e-05,91.0,1338898.0,8.552347090760583e-05,89.0,nfe,1.2583209209383106,8.552347090760583e-05,popmax,91.0,True,False,False,True,False,0.390625,0.811340206185567,20.9719197711187,20.0,0.4989570863816855,0.0,6.490721649484536,3.90625,3.0,54.86784850698492,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.39; detectability=0.81,1427034,1427034,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,-4.167706100505352,-4.067914681917243,0.0997914172763371,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.0679146819172425,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+3:38580945:C:A,SCN5A,VCV003075756,3075756,NM_000335.5(SCN5A):c.3214G>T (p.Glu1072Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.068392073370004e-06,3.0,1450402.0,6.006366748753679e-05,2.0,afr,29.03880759457191,6.006366748753679e-05,popmax,2.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,17.518766713295044,7.216976134290603,7.314893895930626,0.0,6.490721649484536,6.637931034482759,8.0,53.17928942748357,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3075756,3075756,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,-5.684367135229046,-4.221388153306345,1.4629787791861253,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,True,0.0001,-0.2213881533063446,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+6:123636725:T:C,TRDN,VCV001070395,1070395,NM_006073.4(TRDN):c.22+29A>G,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,5.278376069899409e-05,77.0,1458782.0,6.756756756756757e-05,75.0,nfe,1.2800824797762609,6.756756756756757e-05,popmax,77.0,True,False,False,True,False,0.390625,0.811340206185567,18.66911154823352,20.0,0.5361897676051981,0.0,6.490721649484536,3.90625,3.0,52.60227296532325,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.39; detectability=0.81,1070395,1070395,Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-4.277499670716243,-4.1702617153949575,0.10723795352103971,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.1702617153949573,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:115768378:T:C,CASQ2,VCV000427946,427946,NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,3.078341745187184e-05,45.0,1461826.0,4.9675453702477146e-05,3.0,remaining,1.6137081974876168,4.9675453702477146e-05,popmax,45.0,True,False,False,True,False,0.5125,0.811340206185567,15.663191649724624,20.0,1.0391250259135152,0.0,6.490721649484536,5.125,3.0,51.31803832512267,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.51; detectability=0.81,427946,427946,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-4.5116831681918965,-4.303858157643766,0.20782500518270305,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.3038581576437651,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+11:2768920:G:A,KCNQ1,VCV000871731,871731,NM_000218.3(KCNQ1):c.1590+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.053657975586114e-06,3.0,1460808.0,6.709308046696784e-05,3.0,amr,32.6700208089902,6.709308046696784e-05,popmax,3.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,18.600249121064188,9.10680994787812,7.570747055485044,0.0,6.490721649484536,6.4035087719298245,3.0,51.172036545841706,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,871731,871731,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,-5.687471883856611,-4.17332226775905,1.5141494110970088,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.17332226775905044,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+6:123636745:TAGCAATACCTTC:T,TRDN,VCV002051520,2051520,NM_006073.4(TRDN):c.19_22+8del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,1.3703867642564762e-06,2.0,1459442.0,5.052801778586226e-05,2.0,eas,36.871329490654766,5.052801778586226e-05,popmax,2.0,True,False,True,False,True,0.390625,0.6043553875236295,15.829476070387653,7.216976134290603,7.833443987467161,3.0,4.834843100189036,3.90625,8.0,50.62098929233445,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,2051520,2051520,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.863156844612114,-4.296467738800115,1.5666887974934323,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.2964677388001153,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision
+12:2651596:CT:C,CACNA1C,VCV002632714,2632714,NM_000719.7(CACNA1C):c.3946-43del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,2.0525170701003e-06,3.0,1461620.0,3.747423646243208e-05,2.0,fin,18.257689424678656,3.747423646243208e-05,popmax,2.0,True,False,True,False,True,0.7307692307692307,0.6043553875236295,12.908988100114692,7.216976134290603,6.307229075847438,3.0,4.834843100189036,7.3076923076923075,8.0,49.57572871813407,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.73; detectability=0.60,2632714,2632714,CACNA1C-related disorder,CACNA1C-related disorder,CACNA1C-related disorder,variation_id,-5.687713222311061,-4.426267207139606,1.2614458151694876,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,True,0.0001,-0.42626720713960625,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+1:115705191:C:A,CASQ2,VCV000519365,519365,NM_001232.4(CASQ2):c.939+1G>T,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.1733855056306896e-05,46.0,1449556.0,4.178991663820107e-05,46.0,nfe,1.316887477023001,4.178991663820107e-05,popmax,46.0,True,False,False,True,False,0.5125,0.811340206185567,13.974109092309089,20.0,0.5977433387582941,0.0,6.490721649484536,5.125,3.0,49.18757408055192,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.51; detectability=0.81,519365,519365,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,variation_id,-4.498477166223447,-4.37892849517859,0.11954866775165883,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.3789284951785896,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:115705294:T:C,CASQ2,VCV001523438,1523438,NM_001232.4(CASQ2):c.839-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3783198556623447e-06,2.0,1451042.0,4.473272198613286e-05,2.0,amr,32.45450636719618,4.473272198613286e-05,popmax,2.0,True,False,True,False,True,0.5125,0.811340206185567,14.639070048853554,7.216976134290603,7.556375039507466,0.0,6.490721649484536,5.125,8.0,49.02814287213616,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,1523438,1523438,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.860649987486544,-4.349374674204051,1.5112750079014932,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.3493746742040507,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision
+3:38608210:AT:A,SCN5A,VCV004756593,4756593,NM_000335.5(SCN5A):c.938del (p.Asn313fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.876056334154334e-07,1.0,1454322.0,3.8337678270203954e-05,1.0,asj,55.75524930551588,3.8337678270203954e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.6043553875236295,13.13158094533609,4.55340497393906,8.731428810358667,3.0,4.834843100189036,6.637931034482759,8.0,48.88918886430561,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,4756593,4756593,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,-6.162660573882579,-4.4163741915354215,1.7462857620717334,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,True,0.0001,-0.41637419153542204,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+1:115768444:C:T,CASQ2,VCV000862119,862119,NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.0267488613355128e-05,15.0,1460922.0,3.827311696264544e-05,1.0,asj,3.727602306299179,3.827311696264544e-05,popmax,15.0,True,False,False,False,False,0.5125,0.811340206185567,13.115111488979696,18.21361989575624,2.857147858816272,0.0,6.490721649484536,5.125,3.0,48.80160089303674,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,862119,862119,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,variation_id,-4.9885357701066235,-4.417106167392593,0.5714295717632544,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.4171061673925929,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+11:2570686:G:C,KCNQ1,VCV000378906,378906,NM_000218.3(KCNQ1):c.536G>C (p.Gly179Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.054848002893226e-06,3.0,1459962.0,3.8743171516020304e-05,2.0,fin,18.854510701988296,3.8743171516020304e-05,popmax,2.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,13.234391558868406,7.216976134290603,6.377076332028593,0.0,6.490721649484536,6.4035087719298245,8.0,47.72267444660197,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,378906,378906,,,,unmatched,-5.687220297362662,-4.411804830815424,1.2754152664057186,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.41180483081542335,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+11:2445144:GGT:G,KCNQ1,VCV002744490,2744490,NM_000218.3(KCNQ1):c.47_48del (p.Gly16fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.0193098049448758e-06,1.0,981056.0,3.807493146512336e-05,1.0,sas,37.35360429852644,3.807493146512336e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,13.064380687913092,4.55340497393906,7.861662569102269,3.0,4.834843100189036,6.4035087719298245,8.0,47.71780010307328,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,2744490,2744490,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.991693798202426,-4.419360869721284,1.5723325138204538,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.4193608697212837,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+4:113355492:C:T,ANK2,VCV004081881,4081881,NM_001148.6(ANK2):c.6874C>T (p.Arg2292Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,LOF,1.3682492293336216e-06,2.0,1461722.0,3.8267258533598655e-05,1.0,asj,27.96802712924517,3.8267258533598655e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,13.113615641202188,4.55340497393906,7.233309161120902,0.0,6.490721649484536,6.136363636363637,10.0,47.52741506211032,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,4081881,4081881,,,,unmatched,-5.863834787801755,-4.4171726495177746,1.4466618322241802,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.41717264951777494,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+1:115740767:G:A,CASQ2,VCV000801535,801535,NM_001232.4(CASQ2):c.381C>T (p.Gly127=),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,other_or_unresolved,8.897357347985227e-06,13.0,1461108.0,6.707807888382076e-05,3.0,amr,7.5391006251884125,6.707807888382076e-05,popmax,3.0,True,False,True,False,False,0.5125,0.811340206185567,18.59806400383485,9.10680994787812,4.386597699630847,0.0,6.490721649484536,5.125,3.0,46.70719330082835,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,801535,801535,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.050738966345133,-4.173419384081802,0.8773195399261694,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.1734193840818021,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+6:123571097:T:TAAAA,TRDN,VCV001749169,1749169,NM_006073.4(TRDN):c.57_58insTTTT (p.Lys20delinsPheTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,1.573551204040332e-05,23.0,1461662.0,2.9870362626202283e-05,1.0,afr,1.898277072346201,2.9870362626202283e-05,popmax,23.0,True,False,False,True,False,0.390625,0.5866666666666666,10.692911463985178,20.0,1.391798011501853,3.0,4.6933333333333325,3.90625,3.0,46.684292808820366,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=insertion; gene_constraint=0.39; detectability=0.59,1749169,1749169,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-4.8031191203895585,-4.524759505028858,0.2783596023003706,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.524759505028858,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+15:73343470:C:T,HCN4,VCV001514023,1514023,NM_005477.3(HCN4):c.1124G>A (p.Arg375His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0521436008006096e-06,3.0,1461886.0,3.744056310606911e-05,2.0,fin,18.24460327574495,3.744056310606911e-05,popmax,2.0,True,False,True,False,True,0.5,0.811340206185567,12.900203628834737,7.216976134290603,6.305672120901788,0.0,6.490721649484536,5.0,8.0,45.91357353351166,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,1514023,1514023,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id,-5.687792252306214,-4.426657628095805,1.2611344241803575,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,True,0.0001,-0.4266576280958051,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+7:150947326:A:G,KCNH2,VCV000373047,373047,NM_000238.4(KCNH2):c.3152+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.203770165153635e-07,1.0,1388162.0,2.8064660978895374e-05,1.0,amr,38.95824322159453,2.8064660978895374e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.811340206185567,10.083595855158398,4.55340497393906,7.952996823120984,0.0,6.490721649484536,8.26388888888889,8.0,45.34460819059187,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,373047,373047,,,,unmatched,-6.1424401517100575,-4.551840199689963,1.590599364624197,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.551840199689963,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+3:38575364:T:TG,SCN5A,VCV000924057,924057,NM_000335.5(SCN5A):c.3595dup (p.His1199fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.851933821282381e-07,1.0,1459442.0,3.832592365476008e-05,1.0,asj,55.9343824970053,3.832592365476008e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.382680412371134,13.128584433326132,4.55340497393906,8.738394239650557,6.0,3.0614432989690723,6.637931034482759,3.0,45.11975798036759,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.66; detectability=0.38,924057,924057,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,-6.164186840276095,-4.41650736985045,1.7476788479301115,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,True,0.0001,-0.41650736985045006,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+11:2572072:G:GGA,KCNQ1,VCV001455898,1455898,NM_000218.3(KCNQ1):c.745_746dup (p.Leu250fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.84671706763324e-07,1.0,1460554.0,3.828190797029324e-05,1.0,asj,55.91271361066016,3.828190797029324e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.382680412371134,13.117355690081434,4.55340497393906,8.737552851879759,6.0,3.0614432989690723,6.4035087719298245,3.0,44.87326558679914,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.64; detectability=0.38,1455898,1455898,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,-6.16451761846019,-4.417006425118799,1.747510570375952,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.41700642511879876,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+3:38608150:C:A,SCN5A,VCV002452890,2452890,NM_000335.5(SCN5A):c.998+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.903779266846257e-07,1.0,1448482.0,3.0111412225233363e-05,1.0,afr,43.61577687464475,3.0111412225233363e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,10.77145062355202,4.55340497393906,8.198218062193659,0.0,6.490721649484536,6.637931034482759,8.0,44.65172634365204,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2452890,2452890,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-6.160913102681482,-4.521268875598385,1.6396436124387317,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.5212688755983852,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
+6:123512325:T:TG,TRDN,VCV003673082,3673082,NM_006073.4(TRDN):c.587dup (p.Glu197fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.1833916893360138e-05,16.0,1352046.0,1.5570594154409688e-05,16.0,nfe,1.3157599448231894,1.5570594154409688e-05,popmax,16.0,True,False,False,False,True,0.390625,0.382680412371134,4.3268672904939125,18.61187363214038,0.5958833060079006,6.0,3.0614432989690723,3.90625,8.0,44.50231752761127,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,3673082,3673082,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-4.92687148498987,-4.807694814981124,0.11917666120158012,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.8076948149811245,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+11:2572900:T:A,KCNQ1,VCV000375594,375594,NM_000218.3(KCNQ1):c.835T>A (p.Phe279Ile),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,1.3684626827068738e-06,2.0,1461494.0,2.3186792802819512e-05,2.0,sas,16.943667629494662,2.3186792802819512e-05,popmax,2.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,8.217915747967623,7.216976134290603,6.145037118180784,0.0,6.490721649484536,6.4035087719298245,10.0,44.47415942185337,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,375594,375594,Short QT syndrome type 2,Short QT syndrome type 2,Short QT syndrome type 2,variation_id,-5.863767041085759,-4.63475931882058,1.2290074236361568,anchored_exact,1.0,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6347593188205799,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+7:150947380:GCCGC:G,KCNH2,VCV001454593,1454593,NM_000238.4(KCNH2):c.3096_3099del (p.Arg1033fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.432334375595314e-06,2.0,1396322.0,3.980891719745223e-05,1.0,asj,27.793014733652488,3.980891719745223e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,13.499558456497171,4.55340497393906,7.219678288254904,3.0,4.834843100189036,8.26388888888889,3.0,44.37137370776905,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,1454593,1454593,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.843955585014026,-4.400019635065158,1.443935657650981,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.40001963506515853,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+4:113373174:G:T,ANK2,VCV003023363,3023363,NM_001148.6(ANK2):c.11694+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.843090668214118e-07,1.0,1461328.0,2.988464526926065e-05,1.0,afr,43.6712065454092,2.988464526926065e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,10.697582692286032,4.55340497393906,8.200975953741672,0.0,6.490721649484536,6.136363636363637,8.0,44.07904890581493,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3023363,3023363,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.1647477057374,-4.524551894875205,1.6401951907483345,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.5245518948752048,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+6:123516183:C:CT,TRDN,VCV002980846,2980846,NM_006073.4(TRDN):c.507dup (p.Gly170fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.506995472985599e-06,2.0,1327144.0,2.676874481355569e-05,2.0,sas,17.762978409977666,2.676874481355569e-05,popmax,2.0,True,False,True,False,True,0.390625,0.382680412371134,9.621630535950798,7.216976134290603,6.247578939692527,6.0,3.0614432989690723,3.90625,8.0,44.053878908903,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,2980846,2980846,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.821888052304033,-4.5723719924039035,1.2495157879385055,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.5723719924039032,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision
+7:150948445:CTTGT:C,KCNH2,VCV003076018,3076018,NM_000238.4(KCNH2):c.2687_2690del (p.Asp896fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3790573591327384e-06,2.0,1450266.0,2.520923666431381e-05,1.0,eas,18.280036879778883,2.520923666431381e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.6043553875236295,9.035093534989963,4.55340497393906,6.309885337915842,3.0,4.834843100189036,8.26388888888889,8.0,43.99711583592279,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3076018,3076018,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,-5.860417669838094,-4.598440304561373,1.2619770675831685,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5984403045613724,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+11:2587636:GC:G,KCNQ1,VCV003720989,3720989,NM_000218.3(KCNQ1):c.1201del (p.Arg401fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.368365309750013e-06,2.0,1461598.0,2.31862551879246e-05,2.0,sas,16.94448045286974,2.31862551879246e-05,popmax,2.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,8.217689177940336,7.216976134290603,6.145141285781141,3.0,4.834843100189036,6.4035087719298245,8.0,43.81815847013094,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,3720989,3720989,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.863797944407404,-4.634769388600005,1.229028257156228,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6347693886000046,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+6:123516189:C:A,TRDN,VCV000838068,838068,NM_006073.4(TRDN):c.502G>T (p.Glu168Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.0270178963157825e-05,27.0,1332006.0,2.603458550047152e-05,27.0,nfe,1.2843786561239623,2.603458550047152e-05,popmax,27.0,True,False,False,True,False,0.390625,0.811340206185567,9.349890396693658,20.0,0.5434653991227222,0.0,6.490721649484536,3.90625,3.0,43.29032744530092,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.39; detectability=0.81,838068,838068,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,-4.693142416952339,-4.584449332383948,0.10869307982454435,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.584449332383948,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+12:2593260:C:T,CACNA1C,VCV004055971,4055971,NM_000719.7(CACNA1C):c.2578C>T (p.Arg860Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842753524018065e-07,1.0,1461400.0,3.827018752391887e-05,1.0,asj,55.92797177571708,3.827018752391887e-05,popmax,1.0,True,False,True,False,False,0.7307692307692307,0.811340206185567,13.114363536467756,4.55340497393906,8.738145349762476,0.0,6.490721649484536,7.3076923076923075,3.0,43.20432781734613,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.73; detectability=0.81,4055971,4055971,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164769103009198,-4.4171394097273255,1.7476290699524952,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,True,0.0001,-0.4171394097273256,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+3:38566555:G:A,SCN5A,VCV000440848,440848,NM_198056.2(SCN5A):c.[3694C>T;4859C>T],Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,other_or_unresolved,3.4209226365187595e-06,5.0,1461594.0,2.9870362626202283e-05,1.0,afr,8.731666298344887,2.9870362626202283e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,10.692911463985178,4.55340497393906,4.705485648723811,0.0,6.490721649484536,6.637931034482759,10.0,43.08045477061535,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,440848,440848,,,,unmatched,-5.465856747186733,-4.524759505028858,0.9410971297447622,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,0.07730048629910428,True,False,True,False,True,True,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision|sads_sensitive
+7:150952752:C:T,KCNH2,VCV003381030,3381030,NM_000238.4(KCNH2):c.1230G>A (p.Trp410Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840469310918484e-07,1.0,1461888.0,2.235935962794025e-05,1.0,amr,32.686833205169094,2.235935962794025e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.811340206185567,7.86283606399323,4.55340497393906,7.571864234571959,0.0,6.490721649484536,8.26388888888889,8.0,42.74271581087767,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3381030,3381030,,,,unmatched,-6.164914101181898,-4.6505406388014645,1.5143728469143918,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6505406388014646,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+3:38613742:C:A,SCN5A,VCV001171509,1171509,NM_000335.5(SCN5A):c.703+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.932745436520316e-07,1.0,1442430.0,2.56068831301854e-05,1.0,eas,36.93608459818682,2.56068831301854e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,9.188026567224757,4.55340497393906,7.837254281248514,0.0,6.490721649484536,6.637931034482759,8.0,42.70733850637963,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,1171509,1171509,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,-6.15909474636754,-4.5916432806389675,1.5674508562497027,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,True,0.0001,-0.5916432806389674,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+3:38581117:TGGGGGTGGCGGGGAGTA:T,SCN5A,VCV002754396,2754396,NM_000335.5(SCN5A):c.3025_3041del (p.Tyr1009fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.972392116176787e-07,1.0,1434228.0,2.27004449287206e-05,1.0,amr,32.557568468480774,2.27004449287206e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.6043553875236295,8.01077374304839,4.55340497393906,7.563259812757562,3.0,4.834843100189036,6.637931034482759,8.0,42.60021266441681,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,2754396,2754396,,,,unmatched,-6.156618196848443,-4.6439656305516115,1.5126519625515125,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.6439656305516117,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
+3:38587561:TC:T,SCN5A,VCV001214434,1214434,NM_000335.5(SCN5A):c.2274del (p.Ile759fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.052421583812688e-06,3.0,1461688.0,3.3126842680624107e-05,2.0,remaining,16.140362097890165,3.3126842680624107e-05,popmax,2.0,True,False,True,False,False,0.6637931034482759,0.6043553875236295,11.70405131304097,7.216976134290603,6.039566367962358,3.0,4.834843100189036,6.637931034482759,3.0,42.43336794996573,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.66; detectability=0.60,1214434,1214434,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-5.687733426836054,-4.479819954752671,1.2079132735924716,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.479819954752671,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
+11:2572110:G:A,KCNQ1,VCV001067403,1067403,NM_000218.3(KCNQ1):c.780+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.854366642813471e-07,1.0,1458924.0,2.520034272466105e-05,1.0,eas,36.76533263033125,2.520034272466105e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,9.031645450357535,4.55340497393906,7.827192497787115,0.0,6.490721649484536,6.4035087719298245,8.0,42.30647334349807,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,1067403,1067403,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164032668699268,-4.598593552773338,1.5654384995574229,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5985935527733383,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+11:2583509:CTCTG:C,KCNQ1,VCV002830594,2830594,NM_000218.3(KCNQ1):c.1000_1003del (p.Val334fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.841311671004058e-07,1.0,1461708.0,2.235935962794025e-05,1.0,amr,32.68280853202259,2.235935962794025e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,7.86283606399323,4.55340497393906,7.571596848474263,3.0,4.834843100189036,6.4035087719298245,8.0,42.226189758525415,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,2830594,2830594,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164860623884185,-4.6505406388014645,1.5143193696948525,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6505406388014646,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+1:237795312:A:C,RYR2,VCV000852605,852605,NM_001035.3(RYR2):c.13937A>C (p.Asp4646Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,9.531449812945298e-06,12.0,1258990.0,1.2573555298496204e-05,12.0,nfe,1.319164998619016,1.2573555298496204e-05,popmax,12.0,True,False,True,False,True,0.8035714285714286,0.811340206185567,2.237807940724398,16.849600618345303,0.601495598308596,0.0,6.490721649484536,8.035714285714286,8.0,42.21534009257712,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,852605,852605,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.020841034527222,-4.900541903841445,0.12029911966171912,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,-0.2984819125134828,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision
+1:115727014:C:A,CASQ2,VCV001757434,1757434,NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.2557001542898904e-06,3.0,1329964.0,3.53090720775858e-05,3.0,sas,15.653258416096053,3.53090720775858e-05,popmax,3.0,True,False,True,False,False,0.5125,0.811340206185567,12.327442126962277,9.10680994787812,5.9730237748543935,0.0,6.490721649484536,5.125,3.0,42.022997499179326,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,1757434,1757434,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,-5.646718630748966,-4.452113695545919,1.1946047549708787,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.4521136955459197,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision
+7:150947827:GC:G,KCNH2,VCV001420193,1420193,NM_000238.4(KCNH2):c.2743del (p.Ala915fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,7.281115117342451e-07,1.0,1373416.0,2.8638524543215534e-05,1.0,fin,39.3325551775003,2.8638524543215534e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,10.281389726816125,4.55340497393906,7.973760802916131,3.0,4.834843100189036,8.26388888888889,3.0,41.90728749274924,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,1420193,1420193,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,variation_id,-6.137802102524645,-4.543049360639533,1.5947521605832262,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5430493606395334,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+12:2593252:C:G,CACNA1C,VCV000633643,633643,NM_000719.7(CACNA1C):c.2570C>G (p.Pro857Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842613057074236e-07,1.0,1461430.0,2.2369362920544025e-05,1.0,amr,32.691211738483084,2.2369362920544025e-05,popmax,1.0,True,False,True,False,True,0.7307692307692307,0.811340206185567,7.8672067870637745,4.55340497393906,7.572155092590362,0.0,6.490721649484536,7.3076923076923075,8.0,41.79118081077004,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,633643,633643,Long QT syndrome 8|Long QT syndrome,Long QT syndrome 8|Long QT syndrome,Long QT syndrome 8|Long QT syndrome,variation_id,-6.164778018227981,-4.650346384434088,1.5144310185180725,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,True,0.0001,-0.6503463844340879,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+4:113356680:C:T,ANK2,VCV003906496,3906496,NM_001148.6(ANK2):c.8062C>T (p.Arg2688Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052244676819349e-06,3.0,1461814.0,2.987571701720841e-05,1.0,afr,14.557573859047409,2.987571701720841e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,10.69466291292472,4.55340497393906,5.815445011071998,0.0,6.490721649484536,6.136363636363637,8.0,41.69059818378395,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3906496,3906496,,,,unmatched,-5.6877708621480565,-4.524681662851162,1.1630890022143996,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.5246816628511615,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+21:34449497:G:T,KCNE1,VCV000547162,547162,NM_000219.6(KCNE1):c.138C>A (p.Tyr46Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.000828228591091e-06,3.0,999724.0,2.9429942023014216e-05,2.0,sas,9.807270184725496,2.9429942023014216e-05,popmax,2.0,True,False,True,False,True,0.4166666666666667,0.811340206185567,10.547761979187364,7.216976134290603,4.95774070015624,0.0,6.490721649484536,4.166666666666667,8.0,41.37986712978541,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.42; detectability=0.81,547162,547162,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5|Long QT syndrome,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5|Long QT syndrome,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5|Long QT syndrome,variation_id,-5.52275886345888,-4.531210593459676,0.991548140031248,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,0.07084939786828673,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary
+1:115726996:G:A,CASQ2,VCV000859128,859128,NM_001232.4(CASQ2):c.733C>T (p.Gln245Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.6498437597959474e-06,2.0,1212236.0,2.4118469924268005e-05,2.0,sas,14.618630499060393,2.4118469924268005e-05,popmax,2.0,True,False,True,False,True,0.5125,0.811340206185567,8.602869840903006,7.216976134290603,5.82453344499717,0.0,6.490721649484536,5.125,8.0,41.26010106967532,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,859128,859128,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id,-5.782557181526257,-4.617650247299917,1.1649066889994342,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.617650247299917,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision
+11:2775959:G:A,KCNQ1,VCV000666975,666975,NM_000218.3(KCNQ1):c.1591-1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.4245501270698712e-06,2.0,1403952.0,3.968253968253968e-05,1.0,asj,27.85617162380255,3.968253968253968e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,13.468488078660226,4.55340497393906,7.224607147499393,0.0,6.490721649484536,6.4035087719298245,3.0,41.14073062151304,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,666975,666975,Congenital long QT syndrome|Long QT syndrome,Congenital long QT syndrome|Long QT syndrome,Congenital long QT syndrome|Long QT syndrome,variation_id,-5.846322264201398,-4.401400540781544,1.4449214294998787,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.40140054078154414,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+3:38580930:C:T,SCN5A,VCV004614938,4614938,NM_000335.5(SCN5A):c.3228+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.386107049047398e-06,2.0,1442890.0,2.540779511154022e-05,1.0,eas,18.330314241376573,2.540779511154022e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,9.111757403326108,4.55340497393906,6.3158495512502615,0.0,6.490721649484536,6.637931034482759,8.0,41.109664612482725,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4614938,4614938,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-5.858203227866139,-4.595033021389579,1.2631699102500522,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.5950330213895793,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
+7:150947785:TC:T,KCNH2,VCV000972416,972416,NM_000238.4(KCNH2):c.2785del (p.Glu929fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,7.232300030520306e-07,1.0,1382686.0,2.6745119015779625e-05,1.0,fin,36.98005188233825,2.6745119015779625e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,9.613002399391142,4.55340497393906,7.839837580654089,3.0,4.834843100189036,8.26388888888889,3.0,41.10497694306222,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,972416,972416,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.140723565539252,-4.57275546515422,1.567967516130818,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5727554651542196,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+1:115717895:C:T,CASQ2,VCV002914884,2914884,NM_001232.4(CASQ2):c.784-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.873948285912256e-07,1.0,1454768.0,2.5218136884047006e-05,1.0,eas,36.68648664297249,2.5218136884047006e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,9.038542836767386,4.55340497393906,7.822530613204668,0.0,6.490721649484536,5.125,8.0,41.03020007339565,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2914884,2914884,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.162793739470749,-4.598287002254073,1.5645061226409336,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.5982870022540738,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision
+1:115744827:C:G,CASQ2,VCV001515619,1515619,NM_001232.4(CASQ2):c.319+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.866537850416593e-07,1.0,1456338.0,2.521050773962588e-05,1.0,eas,36.71496840744561,2.521050773962588e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,9.03558621784762,4.55340497393906,7.824215794207941,0.0,6.490721649484536,5.125,8.0,41.028928635479154,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,1515619,1515619,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.163262181638569,-4.598418407544608,1.564843158841588,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.5984184075446082,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision
+11:2570755:G:A,KCNQ1,VCV000926958,926958,NM_000218.3(KCNQ1):c.604+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.371599119982005e-06,2.0,1458152.0,2.5191455058444177e-05,1.0,eas,18.366472626711847,2.5191455058444177e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,9.028198582011438,4.55340497393906,6.320128779391975,0.0,6.490721649484536,6.4035087719298245,8.0,40.79596275675683,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,926958,926958,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,-5.862772802200343,-4.598746746928134,1.264025755878395,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5987467469281339,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+4:113232260:G:A,ANK2,VCV002101362,2101362,NM_001148.6(ANK2):c.483+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.081932291061752e-07,1.0,1412044.0,2.239741981723705e-05,1.0,amr,31.6260990230113,2.239741981723705e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,7.879455222339948,4.55340497393906,7.500228132000161,0.0,6.490721649484536,6.136363636363637,8.0,40.560173614127336,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2101362,2101362,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.1498482297607415,-4.649802009508604,1.5000456264000321,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.6498020095086041,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+1:115727123:CTGTAACCATT:C,CASQ2,VCV003019374,3019374,NM_001232.4(CASQ2):c.607-11_607-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,8.92116979868351e-06,13.0,1457208.0,1.173325438959098e-05,13.0,nfe,1.3152147464010495,1.173325438959098e-05,popmax,13.0,True,False,True,False,True,0.5125,0.6043553875236295,1.5619167845981994,17.336428839648455,0.5949833480172113,3.0,4.834843100189036,5.125,8.0,40.4531720724529,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.51; detectability=0.60,3019374,3019374,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.049578194524858,-4.930581513254062,0.11899666960344225,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.9305815132540618,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+7:150958081:CG:C,KCNH2,VCV001076966,1076966,NM_000238.4(KCNH2):c.893del (p.Pro298fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.5673706872718e-06,4.0,1121274.0,3.380434047731729e-05,1.0,sas,9.475979640116968,3.380434047731729e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,11.901880802626826,4.55340497393906,4.883120594680425,3.0,4.834843100189036,8.26388888888889,3.0,40.43713836032424,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,1076966,1076966,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,variation_id,-5.447651760560098,-4.4710275327305515,0.976624118936085,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,0.13103245859741097,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary
+4:113282823:T:C,ANK2,VCV002664649,2664649,NM_001148.6(ANK2):c.2030T>C (p.Met677Thr),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,2.0523373385836683e-06,3.0,1461748.0,2.237236565394425e-05,1.0,amr,10.90091542575946,2.237236565394425e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,7.868518385294778,4.55340497393906,5.187314851016116,0.0,6.490721649484536,6.136363636363637,10.0,40.23632349609812,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2664649,2664649,,,,unmatched,-5.687751253577545,-4.650288091176771,1.0374629702032232,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.6502880911767708,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+3:38551291:A:AAGTT,SCN5A,VCV001457006,1457006,NM_000335.5(SCN5A):c.5074_5077dup (p.Phe1693Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.840441235821475e-07,1.0,1461894.0,1.6557387906483872e-05,1.0,remaining,24.20511211274717,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.382680412371134,4.927316620159899,4.55340497393906,6.919535492689683,6.0,3.0614432989690723,6.637931034482759,8.0,40.09963142024048,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.66; detectability=0.38,1457006,1457006,,,,unmatched,-6.164915883645086,-4.7810081764447645,1.3839070985379367,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.7810081764447644,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive
+11:2847865:C:CA,KCNQ1,VCV000405260,405260,NM_000218.3(KCNQ1):c.1894dup (p.Arg632fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,7.015476140365646e-07,1.0,1425420.0,2.484225170169424e-05,1.0,amr,35.410593371081,2.484225170169424e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.382680412371134,8.891796942507975,4.55340497393906,7.745666021199067,6.0,3.0614432989690723,6.4035087719298245,3.0,39.655820008545,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.64; detectability=0.38,405260,405260,Long QT syndrome||Cardiac arrhythmia,Long QT syndrome||Cardiac arrhythmia,Long QT syndrome||Cardiac arrhythmia,variation_id,-6.153942848068836,-4.604809042259513,1.5491332042398134,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6048090422595129,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+3:38581292:ATC:A,SCN5A,VCV000418944,418944,NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,4.791389735748012e-06,7.0,1460954.0,3.826432999158185e-05,1.0,asj,7.986059393172863,3.826432999158185e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.6043553875236295,13.112867803174236,4.55340497393906,4.511662678822849,3.0,4.834843100189036,6.637931034482759,3.0,39.65070959060794,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.66; detectability=0.60,418944,418944,Cardiac arrhythmia|Cardiovascular phenotype|Brugada syndrome|Long QT syndrome 3,Cardiac arrhythmia|Cardiovascular phenotype|Brugada syndrome|Long QT syndrome 3,Cardiac arrhythmia|Cardiovascular phenotype|Brugada syndrome|Long QT syndrome 3,variation_id,-5.319538501819648,-4.4172058867643305,0.9023325357645697,anchored_exact,1.0,Brugada|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,0.18485410456363213,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision
+1:115705275:C:A,CASQ2,VCV000651334,651334,NM_001232.4(CASQ2):c.856G>T (p.Glu286Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.846004603253495e-07,1.0,1460706.0,2.2361359570661896e-05,1.0,amr,32.66332584221321,2.2361359570661896e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,7.8637100522238415,4.55340497393906,7.570302016728117,0.0,6.490721649484536,5.125,8.0,39.60313869237555,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,651334,651334,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.164562813178434,-4.650501794878367,1.5140604033456235,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.650501794878367,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision
+1:115705293:C:G,CASQ2,VCV004778592,4778592,NM_001232.4(CASQ2):c.839-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.880825478871049e-07,1.0,1453314.0,2.236736154603203e-05,1.0,amr,32.50675388870347,2.236736154603203e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,7.866332486038185,4.55340497393906,7.559868015950208,0.0,6.490721649484536,5.125,8.0,39.59532712541199,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,4778592,4778592,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.162359457198581,-4.650385242259184,1.5119736031900417,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.6503852422591847,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision
+3:38551460:G:A,SCN5A,VCV000523778,523778,NM_000335.5(SCN5A):c.4909C>T (p.Arg1637Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.104371429196857e-06,6.0,1461856.0,3.311587243765937e-05,2.0,remaining,8.068437747531474,3.311587243765937e-05,popmax,2.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,11.70081481806312,7.216976134290603,4.5339472626392565,0.0,6.490721649484536,6.637931034482759,3.0,39.58039089896028,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,523778,523778,Brugada syndrome|Cardiovascular phenotype,Brugada syndrome|Cardiovascular phenotype,Brugada syndrome|Cardiovascular phenotype,variation_id,-5.386753344204365,-4.479963798978251,0.9067894525278514,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,0.12209619234971077,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision
+3:38603712:C:T,SCN5A,VCV000505275,505275,NM_000335.5(SCN5A):c.1890G>A (p.Thr630=),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,other_or_unresolved,1.4756161804265416e-06,2.0,1355366.0,3.419271011420365e-05,1.0,amr,23.17180334286967,3.419271011420365e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,12.013504583463668,4.55340497393906,6.824799170111071,0.0,6.490721649484536,6.637931034482759,3.0,39.5203614114811,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,505275,505275,Cardiovascular phenotype|Cardiac arrhythmia|Brugada syndrome 1||Brugada syndrome,Cardiovascular phenotype|Cardiac arrhythmia|Brugada syndrome 1||Brugada syndrome,Cardiovascular phenotype|Cardiac arrhythmia|Brugada syndrome 1||Brugada syndrome,variation_id,-5.831026591293273,-4.466066475658547,1.3649598340222142,anchored_exact,1.0,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,True,0.0001,-0.46606647565854664,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+15:73329724:C:A,HCN4,VCV000404118,404118,NM_005477.3(HCN4):c.1439G>T (p.Gly480Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840693919991244e-07,1.0,1461840.0,2.236235967619303e-05,1.0,amr,32.69014554312366,2.236235967619303e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,7.864147075654932,4.55340497393906,7.572084270756659,0.0,6.490721649484536,5.0,8.0,39.48035796983519,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,404118,404118,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id,-6.164899841213027,-4.6504823716138945,1.5144168541513319,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,True,0.0001,-0.6504823716138943,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+6:123377715:C:A,TRDN,VCV003780742,3780742,NM_006073.4(TRDN):c.1246+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.053511778943564e-06,3.0,1460912.0,2.990251779199809e-05,1.0,afr,14.561642420059124,2.990251779199809e-05,popmax,1.0,True,False,True,False,True,0.390625,0.811340206185567,10.70342486961894,4.55340497393906,5.816051810922391,0.0,6.490721649484536,3.90625,8.0,39.469853303964925,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,3780742,3780742,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.687502801690036,-4.524292242540612,1.1632103621844783,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.5242922425406118,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision
+6:123530549:CTT:C,TRDN,VCV001403180,1403180,NM_006073.4(TRDN):c.439_440del (p.Lys147fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,9.0703770555742e-07,1.0,1102490.0,2.2095541119802024e-05,1.0,remaining,24.360087374907803,2.2095541119802024e-05,popmax,1.0,True,False,True,False,True,0.390625,0.6043553875236295,7.746854885003509,4.55340497393906,6.933394208468446,3.0,4.834843100189036,3.90625,8.0,38.97474716760005,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,1403180,1403180,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.042374658943037,-4.655695358099588,1.3866788416936893,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.6556953580995877,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision
+3:38562432:G:A,SCN5A,VCV000496571,496571,NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.856199444099349e-07,1.0,1458534.0,2.524614996213077e-05,1.0,eas,36.822315840800826,2.524614996213077e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,9.049391432957496,4.55340497393906,7.83055549406824,0.0,6.490721649484536,6.637931034482759,3.0,37.5620045849321,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,496571,496571,Brugada syndrome (shorter-than-normal QT interval)||Brugada syndrome 1|Cardiovascular phenotype,Brugada syndrome (shorter-than-normal QT interval)||Brugada syndrome 1|Cardiovascular phenotype,Brugada syndrome (shorter-than-normal QT interval)||Brugada syndrome 1|Cardiovascular phenotype,variation_id,-6.163916557448343,-4.597804842404293,1.566111098813648,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,True,0.0001,-0.5978048424042931,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+11:2445417:C:T,KCNQ1,VCV002440963,2440963,NM_000218.3(KCNQ1):c.319C>T (p.Gln107Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3834281903929214e-06,2.0,1445684.0,2.3213705371651425e-05,2.0,sas,16.779829811931517,2.3213705371651425e-05,popmax,2.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,8.229250952613919,7.216976134290603,6.123937758591581,0.0,6.490721649484536,6.4035087719298245,3.0,37.46439526691046,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,2440963,2440963,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.859043378861654,-4.634255531925697,1.2247875517183162,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6342555319256964,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+1:237784169:A:C,RYR2,VCV003255050,3255050,NM_001035.3(RYR2):c.12457A>C (p.Ser4153Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.3682773114992762e-06,2.0,1461692.0,1.6563421340312053e-05,1.0,remaining,12.105302116616071,1.6563421340312053e-05,popmax,1.0,True,False,True,False,True,0.8035714285714286,0.811340206185567,4.930876705577447,4.55340497393906,5.414878163825536,0.0,6.490721649484536,8.035714285714286,8.0,37.42559577854087,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,3255050,3255050,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.8638258743639335,-4.780849950416652,1.0829756327651072,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,True,0.0001,-0.7808499504166522,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+11:2572980:G:A,KCNQ1,VCV002440959,2440959,NM_000218.3(KCNQ1):c.915G>A (p.Trp305Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.845723408129707e-07,1.0,1460766.0,2.5192724341210258e-05,1.0,eas,36.80062286867968,2.5192724341210258e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,9.028690917341178,4.55340497393906,7.829275846919392,0.0,6.490721649484536,6.4035087719298245,3.0,37.30560215961399,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,2440959,2440959,,,,unmatched,-6.164580651904198,-4.598724865357054,1.5658551693838785,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5987248653570547,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+11:2445200:C:A,KCNQ1,VCV002899907,2899907,NM_000218.3(KCNQ1):c.102C>A (p.Cys34Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.003045087718947e-06,3.0,998986.0,3.278043663541598e-05,1.0,sas,10.915729122331037,3.278043663541598e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,11.601331814792106,4.55340497393906,5.190263749803998,0.0,6.490721649484536,6.4035087719298245,3.0,37.23923095994952,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,2899907,2899907,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,variation_id,-5.522438147254718,-4.484385265924494,1.0380527499607999,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.48438526592449366,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+6:123530547:GTCTTA:G,TRDN,VCV000449691,449691,NM_006073.4(TRDN):c.438_442del (p.Asp146_Lys147insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,8.154670542249349e-06,9.0,1103662.0,3.4233679093492176e-05,2.0,sas,4.198045245124528,3.4233679093492176e-05,popmax,2.0,True,False,True,False,False,0.390625,0.6043553875236295,12.02520572910473,7.216976134290603,3.1152355747598097,3.0,4.834843100189036,3.90625,3.0,37.098510538344186,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,449691,449691,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype,variation_id,-5.088593580248895,-4.465546424725965,0.623047114951962,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.4655464247259657,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+4:113367670:T:G,ANK2,VCV004278327,4278327,NM_001148.6(ANK2):c.11137T>G (p.Ser3713Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840721997162468e-07,1.0,1461834.0,1.6559032952475575e-05,1.0,remaining,24.206523452964174,1.6559032952475575e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,4.928287423921334,4.55340497393906,6.919662102183732,0.0,6.490721649484536,6.136363636363637,8.0,37.0284397858923,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,4278327,4278327,"Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related",variation_id,-6.164898058683996,-4.780965029608317,1.3839324204367465,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.7809650296083169,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+4:113354772:C:T,ANK2,VCV003359793,3359793,NM_001148.6(ANK2):c.6154C>T (p.Arg2052Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3683166284678274e-06,2.0,1461650.0,1.872308556450103e-05,1.0,fin,13.683289738411244,1.872308556450103e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,6.128492517596933,4.55340497393906,5.680952615385102,0.0,6.490721649484536,6.136363636363637,8.0,36.98993539276927,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3359793,3359793,,,,unmatched,-5.863813395243639,-4.727622577969138,1.1361905230770204,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.7276225779691373,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+6:123516159:CT:C,TRDN,VCV001075032,1075032,NM_006073.4(TRDN):c.531del (p.Glu178fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.240414387045028e-06,3.0,1339038.0,3.33000333000333e-05,1.0,afr,14.863330475494562,3.33000333000333e-05,popmax,1.0,True,False,True,False,False,0.390625,0.6043553875236295,11.755005318964844,4.55340497393906,5.860580670631089,3.0,4.834843100189036,3.90625,3.0,36.91008406372403,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,1075032,1075032,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,-5.649671647128898,-4.477555332198981,1.1721161341262178,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.4775553321989812,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision
+7:150959590:T:TG,KCNH2,VCV000503669,503669,NM_000238.4(KCNH2):c.453dup (p.Thr152fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.3683035225605884e-06,2.0,1461664.0,1.8775111711914684e-05,1.0,fin,13.721443145404296,1.8775111711914684e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.382680412371134,6.1556074395176905,4.55340497393906,5.68699895230755,6.0,3.0614432989690723,8.26388888888889,3.0,36.72134355362226,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.83; detectability=0.38,503669,503669,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,variation_id,-5.863817554990246,-4.726417470263939,1.13739979046151,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.7264174702639392,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+3:38620919:G:A,SCN5A,VCV000667015,667015,NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842435140557302e-07,1.0,1461468.0,2.2374367924106146e-05,1.0,amr,32.69937641368331,2.2374367924106146e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,7.869392881930953,4.55340497393906,7.572697353105923,0.0,6.490721649484536,6.637931034482759,3.0,36.12414789294324,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,667015,667015,Brugada syndrome|Brugada syndrome (shorter-than-normal QT interval)||Cardiac arrhythmia,Brugada syndrome|Brugada syndrome (shorter-than-normal QT interval)||Cardiac arrhythmia,Brugada syndrome|Brugada syndrome (shorter-than-normal QT interval)||Cardiac arrhythmia,variation_id,-6.164789310575721,-4.650249224657871,1.5145394706211845,anchored_exact,1.0,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,True,0.0001,-0.6502492246578704,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+17:70175675:G:A,KCNJ2,VCV001480008,1480008,NM_000891.3(KCNJ2):c.636G>A (p.Trp212Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840450594161539e-07,1.0,1461892.0,1.6557387906483872e-05,1.0,remaining,24.20507899806617,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,4.927316620159899,4.55340497393906,6.919532521926111,0.0,6.490721649484536,5.0,8.0,35.89097576550961,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,1480008,1480008,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,-6.1649152894915025,-4.7810081764447645,1.3839065043852221,anchored_exact,1.0,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,True,0.0001,-0.7810081764447644,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+11:2585248:C:T,KCNQ1,VCV000842027,842027,NM_000218.3(KCNQ1):c.1069C>T (p.Gln357Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3682454851319603e-06,2.0,1461726.0,2.5188916876574308e-05,1.0,eas,18.40963463110593,2.5188916876574308e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,9.027213985763447,4.55340497393906,6.325225846575167,0.0,6.490721649484536,6.4035087719298245,3.0,35.800075227692034,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,842027,842027,Long QT syndrome|KCNQ1-related disorder,Long QT syndrome|KCNQ1-related disorder,Long QT syndrome|KCNQ1-related disorder,variation_id,-5.8638359762463095,-4.598790506763115,1.265045169315033,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5987905067631151,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+4:113333091:C:T,ANK2,VCV002576605,2576605,NM_001148.6(ANK2):c.3262C>T (p.Arg1088Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.368095733867073e-06,2.0,1461886.0,1.6557387906483872e-05,1.0,remaining,12.102498673235353,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,4.927316620159899,4.55340497393906,5.414375218511921,0.0,6.490721649484536,6.136363636363637,8.0,35.522182098459055,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2576605,2576605,"ANK2-associated Neurodevelopmental Disorder|Cardiac arrhythmia, ankyrin-B-related","ANK2-associated Neurodevelopmental Disorder|Cardiac arrhythmia, ankyrin-B-related","ANK2-associated Neurodevelopmental Disorder|Cardiac arrhythmia, ankyrin-B-related",variation_id,-5.8638835113618955,-4.7810081764447645,1.0828750437023842,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.7810081764447644,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+7:150977912:A:G,KCNH2,VCV004813695,4813695,NM_000238.4(KCNH2):c.2T>C (p.Met1Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.93410107700458e-07,1.0,1442148.0,1.171042461999672e-05,1.0,sas,16.888142531826052,1.171042461999672e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.811340206185567,1.542885299143372,4.55340497393906,6.137909428275693,0.0,6.490721649484536,8.26388888888889,8.0,34.98881023973155,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,4813695,4813695,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,-6.159009832009677,-4.931427357124214,1.2275818856551386,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.9314273571242137,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+11:2583515:CTT:C,KCNQ1,VCV003000119,3000119,NM_000218.3(KCNQ1):c.1004_1005del (p.Phe335fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,4.105124015796517e-06,6.0,1461588.0,1.6558484567492383e-05,1.0,remaining,4.033612984689953,1.6558484567492383e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,4.927963811950888,4.55340497393906,3.028471131906448,3.0,4.834843100189036,6.4035087719298245,8.0,34.74819178991525,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,3000119,3000119,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.38667371831006,-4.780979412363427,0.6056942263812896,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-0.1789194210354652,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary
+1:115738290:G:A,CASQ2,VCV000942279,942279,NM_001232.4(CASQ2):c.466C>T (p.Gln156Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052578860079804e-06,3.0,1461576.0,1.655958137378287e-05,1.0,remaining,8.067692125332965,1.655958137378287e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,4.928611046609361,4.55340497393906,4.533746582792739,0.0,6.490721649484536,5.125,8.0,33.6314842528257,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,942279,942279,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.687700148293988,-4.780950646376869,0.9067493165585478,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.7809506463768694,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+6:123516162:T:A,TRDN,VCV000583099,583099,NM_006073.4(TRDN):c.529A>T (p.Lys177Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.239026530971708e-06,3.0,1339868.0,1.8289560318969934e-05,1.0,remaining,8.168529000191663,1.8289560318969934e-05,popmax,1.0,True,False,True,False,True,0.390625,0.811340206185567,5.899574000431089,4.55340497393906,4.560719276163659,0.0,6.490721649484536,3.90625,8.0,33.41066990001834,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,583099,583099,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.6499407602903995,-4.737796734837436,0.9121438552327318,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.737796734837436,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+3:38603999:G:A,SCN5A,VCV000517279,517279,NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.7902486960258726e-06,7.0,1461302.0,2.519018590357197e-05,1.0,eas,5.258637545443709,2.519018590357197e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,9.027706271486364,4.55340497393906,3.604366189265548,0.0,6.490721649484536,6.637931034482759,3.0,33.31413011865827,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,517279,517279,Brugada syndrome|Cardiovascular phenotype|Primary familial dilated cardiomyopathy||Cardiac arrhythmia|SCN5A-related disorder,Brugada syndrome|Cardiovascular phenotype|Primary familial dilated cardiomyopathy||Cardiac arrhythmia|SCN5A-related disorder,Brugada syndrome|Cardiovascular phenotype|Primary familial dilated cardiomyopathy||Cardiac arrhythmia|SCN5A-related disorder,variation_id,-5.319641938671461,-4.598768627396784,0.7208732378531095,anchored_exact,1.0,Brugada|arrhythmia|cardiomyopathy_overlap,assertion_condition_label,3,1.584962500721156,Brugada,structural_electrical,0.7,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,0.0032913639311787702,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision
+6:123570930:G:GT,TRDN,VCV004077704,4077704,NM_006073.4(TRDN):c.224dup (p.Asn75fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.843811893723814e-07,1.0,1461174.0,1.160227404571296e-05,1.0,sas,16.952917866481776,1.160227404571296e-05,popmax,1.0,True,False,True,False,True,0.390625,0.382680412371134,1.4522210262051705,4.55340497393906,6.146222289760973,6.0,3.0614432989690723,3.90625,8.0,33.11954158887428,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,4077704,4077704,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,-6.164701935811307,-4.93545688071161,1.2292444579521946,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.93545688071161,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision
+11:2572062:G:T,KCNQ1,VCV000405265,405265,NM_000218.3(KCNQ1):c.733G>T (p.Gly245Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.846370191451896e-07,1.0,1460628.0,1.1593396401409756e-05,1.0,sas,16.933616125912472,1.1593396401409756e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,1.4447412669586976,4.55340497393906,6.143748551865907,0.0,6.490721649484536,6.4035087719298245,8.0,33.03612521417803,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,405265,405265,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164539621739457,-4.935789314484561,1.2287497103731815,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.935789314484561,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+3:38633181:G:A,SCN5A,VCV000924596,924596,NM_000335.5(SCN5A):c.127C>T (p.Arg43Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.843886834962407e-07,1.0,1461158.0,1.657000828500414e-05,1.0,remaining,24.21136625022659,1.657000828500414e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,4.93476191496682,4.55340497393906,6.920096487107972,0.0,6.490721649484536,6.637931034482759,3.0,32.53691605998115,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,924596,924596,Cardiac arrhythmia|Brugada syndrome 1;Long QT syndrome 3||Brugada syndrome 1,Cardiac arrhythmia|Brugada syndrome 1;Long QT syndrome 3||Brugada syndrome 1,Cardiac arrhythmia|Brugada syndrome 1;Long QT syndrome 3||Brugada syndrome 1,variation_id,-6.164697180217685,-4.780677274433368,1.3840192974215944,anchored_exact,1.0,Brugada|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,True,0.0001,-0.7806772744333681,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+1:115732931:G:T,CASQ2,VCV001367739,1367739,NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.05254796462502e-06,3.0,1461598.0,2.236035955458164e-05,1.0,amr,10.893947447761208,2.236035955458164e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,7.863273048337192,4.55340497393906,5.185926379560558,0.0,6.490721649484536,5.125,3.0,32.21832605132135,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,1367739,1367739,Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype,variation_id,-5.687706685351722,-4.650521217274198,1.0371852759121116,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.6505212172741976,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision
+17:70175721:C:T,KCNJ2,VCV000403974,403974,NM_000891.3(KCNJ2):c.682C>T (p.Arg228Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.104292816666712e-06,6.0,1461884.0,1.6557387906483872e-05,1.0,remaining,4.034162671114734,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,4.927316620159899,4.55340497393906,3.028767032278017,0.0,6.490721649484536,5.0,8.0,32.00021027586151,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,403974,403974,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,-5.386761662485399,-4.7810081764447645,0.6057534064556034,anchored_exact,1.0,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-0.17894818511680197,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision
+1:237640956:A:G,RYR2,VCV001805845,1805845,NM_001035.3(RYR2):c.7175A>G (p.Tyr2392Cys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0529075329389014e-06,3.0,1461342.0,1.656781205474005e-05,1.0,remaining,8.070409757137067,1.656781205474005e-05,popmax,1.0,True,False,True,False,False,0.8035714285714286,0.811340206185567,4.933466673522359,4.55340497393906,4.534477928099714,0.0,6.490721649484536,8.035714285714286,3.0,31.54778551075995,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.80; detectability=0.81,1805845,1805845,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.687630611680931,-4.780734840723263,0.9068955856199429,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,-0.1786748493953005,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision
+6:123530506:CT:C,TRDN,VCV002732852,2732852,NM_006073.4(TRDN):c.483del (p.Val162fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.6582867511487022e-06,4.0,1093408.0,2.22727070248118e-05,1.0,remaining,6.088287619752758,2.22727070248118e-05,popmax,1.0,True,False,True,False,False,0.390625,0.6043553875236295,7.824893037576183,4.55340497393906,3.922475804818624,3.0,4.834843100189036,3.90625,3.0,31.041866916522903,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,2732852,2732852,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,-5.436722255786699,-4.652226995606679,0.7844951609637247,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.6522269956066784,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+21:34449418:G:A,KCNE1,VCV000418270,418270,NM_000219.6(KCNE1):c.217C>T (p.His73Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.879216099567022e-07,1.0,1453654.0,1.1603620329542817e-05,1.0,sas,16.86762604048317,1.1603620329542817e-05,popmax,1.0,True,False,True,False,True,0.4166666666666667,0.811340206185567,1.4533548226908253,4.55340497393906,6.135269820157655,0.0,6.490721649484536,4.166666666666667,8.0,30.79941793293874,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.42; detectability=0.81,418270,418270,Long QT syndrome 5,Long QT syndrome 5,Long QT syndrome 5,variation_id,-6.162461047669836,-4.935406489752349,1.227053964031531,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,True,0.0001,-0.935406489752349,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+1:237707240:A:T,RYR2,VCV000649240,649240,NM_001035.3(RYR2):c.9872A>T (p.Asp3291Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,7.100769865468815e-07,1.0,1408298.0,1.27890321260487e-05,1.0,sas,18.0107444088528,1.27890321260487e-05,popmax,1.0,True,False,True,False,False,0.8035714285714286,0.811340206185567,2.403848526170763,4.55340497393906,6.277658315895527,0.0,6.490721649484536,8.035714285714286,3.0,30.76134775120417,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.80; detectability=0.81,649240,649240,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.148694562520469,-4.8931623216840965,1.2555316631791054,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,True,0.0001,-0.8931623216840966,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+11:2572019:C:CCG,KCNQ1,VCV000817280,817280,NM_000218.3(KCNQ1):c.692_693dup (p.Phe232fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.848423835254316e-07,1.0,1460190.0,1.1602543277486424e-05,1.0,sas,16.94189439015813,1.1602543277486424e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.382680412371134,1.4524477749782392,4.55340497393906,6.144809850868763,6.0,3.0614432989690723,6.4035087719298245,3.0,30.61561467068496,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.64; detectability=0.38,817280,817280,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.1644093698822715,-4.935446802987494,1.2289619701737526,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.9354468029874938,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+1:115725554:C:A,CASQ2,VCV003575248,3575248,NM_001232.4(CASQ2):c.738-1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.955567832684809e-06,7.0,1006388.0,2.285818780287099e-05,1.0,remaining,3.2863148008051355,2.285818780287099e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,8.07844085003294,4.55340497393906,2.583545813913104,0.0,6.490721649484536,5.125,3.0,29.83111328736964,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,3575248,3575248,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.157667409663991,-4.640958203442495,0.5167091627826208,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.640958203442495,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+3:38566408:C:T,SCN5A,VCV000488729,488729,NM_000335.5(SCN5A):c.3837+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.791376617260729e-06,7.0,1460958.0,1.8777932174108987e-05,1.0,fin,3.919109424075093,1.8777932174108987e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,6.157075256610451,4.55340497393906,2.9659369471539314,0.0,6.490721649484536,6.637931034482759,3.0,29.80506986167073,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,488729,488729,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,-5.319539690888947,-4.726352233945231,0.5931873894307864,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-0.12429224261726858,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision
+21:34449584:C:T,KCNE1,VCV000547164,547164,NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.0952014842170511e-06,1.0,913074.0,1.5943369152769364e-05,1.0,sas,14.55746346682834,1.5943369152769364e-05,popmax,1.0,True,False,True,False,False,0.4166666666666667,0.811340206185567,4.558052904933406,4.55340497393906,5.815428544415592,0.0,6.490721649484536,4.166666666666667,3.0,28.584274739439262,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.42; detectability=0.81,547164,547164,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome|Sensorineural hearing loss disorder|Long QT syndrome 5,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome|Sensorineural hearing loss disorder|Long QT syndrome 5,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome|Sensorineural hearing loss disorder|Long QT syndrome 5,variation_id,-5.960505976317786,-4.7974198981316665,1.1630857088831186,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,True,0.0001,-0.7974198981316662,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary
+11:2588855:G:A,KCNQ1,VCV002773478,2773478,NM_000218.3(KCNQ1):c.1393+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.8510794560791e-07,1.0,1459624.0,1.160631383472609e-05,1.0,sas,16.940830957078788,1.160631383472609e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,1.4556228103999276,4.55340497393906,6.144673544502126,0.0,6.490721649484536,6.4035087719298245,3.0,28.04793175025548,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,2773478,2773478,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id,-6.1642409956777255,-4.935305690289925,1.2289347089004252,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.9353056902899253,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision
+17:70175818:G:A,KCNJ2,VCV001477795,1477795,NM_000891.3(KCNJ2):c.779G>A (p.Arg260His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,4.104309661955375e-06,6.0,1461878.0,1.15931275939623e-05,1.0,sas,2.8246225855718,1.15931275939623e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,1.4445146969411835,4.55340497393906,2.254802136965795,0.0,6.490721649484536,5.0,8.0,27.74344345733057,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,1477795,1477795,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,-5.386759880010018,-4.935799384263986,0.45096042739315895,anchored_exact,1.0,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-0.33373939293602345,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision
+6:123636753:C:A,TRDN,VCV000915308,915308,NM_006073.4(TRDN):c.22+1G>T,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.055515358810761e-06,3.0,1459488.0,1.6596408537192552e-05,1.0,remaining,8.074082926196981,1.6596408537192552e-05,popmax,1.0,True,False,True,False,False,0.390625,0.811340206185567,4.950318218612913,4.55340497393906,4.535466027950625,0.0,6.490721649484536,3.90625,3.0,27.43616086998713,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.39; detectability=0.81,915308,915308,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.687079273823139,-4.779985883118516,0.9070932055901251,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.779985883118516,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+15:73329709:G:A,HCN4,VCV001675066,1675066,NM_005477.3(HCN4):c.1454C>T (p.Ala485Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,3.420346959995622e-06,5.0,1461840.0,1.6557936218829686e-05,1.0,remaining,4.841009573438511,1.6557936218829686e-05,popmax,1.0,True,False,True,False,False,0.5,0.811340206185567,4.927640210697314,4.55340497393906,3.424679707448827,0.0,6.490721649484536,5.0,3.0,27.396446541569738,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.50; detectability=0.81,1675066,1675066,Left ventricular noncompaction cardiomyopathy|Brugada syndrome 8|Cardiovascular phenotype,Left ventricular noncompaction cardiomyopathy|Brugada syndrome 8|Cardiovascular phenotype,Left ventricular noncompaction cardiomyopathy|Brugada syndrome 8|Cardiovascular phenotype,variation_id,-5.465929836877009,-4.7809937946422325,0.6849359414897653,anchored_exact,1.0,Brugada|cardiomyopathy_overlap,assertion_condition_label,2,1.0,Brugada,structural_electrical,0.7,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,-0.17893380331427042,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision
+1:237330939:C:T,RYR2,VCV000404190,404190,NM_001035.3(RYR2):c.230C>T (p.Ala77Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0524243921061023e-06,3.0,1461686.0,1.15931275939623e-05,1.0,sas,5.648501835219441,1.15931275939623e-05,popmax,1.0,True,False,True,False,False,0.8035714285714286,0.811340206185567,1.4445146969411835,4.55340497393906,3.759666370977259,0.0,6.490721649484536,8.035714285714286,3.0,27.284021977056327,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.80; detectability=0.81,404190,404190,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.687732832598735,-4.935799384263986,0.7519332741954518,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,-0.33373939293602345,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision
+1:115738223:C:T,CASQ2,VCV001746831,1746831,NM_001232.4(CASQ2):c.532+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.006952298070145e-07,1.0,1427154.0,1.168688497767805e-05,1.0,sas,16.678962267139422,1.168688497767805e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,1.5232231551520896,4.55340497393906,6.110845130886591,0.0,6.490721649484536,5.125,3.0,26.80319490946228,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,1746831,1746831,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,-6.1544708390863345,-4.932301230265192,1.2221690261773182,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.9323012302651916,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision
+1:115744914:T:C,CASQ2,VCV000408869,408869,NM_001232.4(CASQ2):c.235-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.372949328559131e-06,2.0,1456718.0,1.162385214460072e-05,1.0,sas,8.466331886019208,1.162385214460072e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,1.4703775753869388,4.55340497393906,4.63847644556688,0.0,6.490721649484536,5.125,3.0,25.27798064437741,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,408869,408869,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,-5.862345490973913,-4.934649922900711,0.9276952891133761,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.9346499229007108,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+21:34449622:T:TA,KCNE1,VCV000430060,430060,NM_000219.6(KCNE1):c.12dup (p.Asn5Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,2.628017292353784e-06,2.0,761030.0,3.923091710114907e-06,2.0,nfe,1.4927950545584636,3.923091710114907e-06,popmax,0.0,False,False,False,False,False,0.4166666666666667,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.42; detectability=0.38,430060,430060,Long QT syndrome|Cardiovascular phenotype|Long QT syndrome 5;Jervell and Lange-Nielsen syndrome 2|Jervell and Lange-Nielsen syndrome 2,Long QT syndrome|Cardiovascular phenotype|Long QT syndrome 5;Jervell and Lange-Nielsen syndrome 2|Jervell and Lange-Nielsen syndrome 2,Long QT syndrome|Cardiovascular phenotype|Long QT syndrome 5;Jervell and Lange-Nielsen syndrome 2|Jervell and Lange-Nielsen syndrome 2,variation_id,-5.580371781445164,-5.406371539249691,0.17400018764202313,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,-0.8043115479217289,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary
+4:113358978:A:AG,ANK2,VCV001208780,1208780,NM_001148.6(ANK2):c.10367dup (p.Thr3457fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,3.420660515862971e-06,,,3.420660515862971e-06,,,2.923411145366478e-07,3.420660515862971e-06,global,0.0,False,False,False,False,True,0.6136363636363636,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.61; detectability=0.38,1208780,1208780,,,,unmatched,-5.465890025318979,-5.465890025318979,-6.534110101643173,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-0.8638300339910164,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision
+7:150947376:C:CG,KCNH2,VCV000857501,857501,NM_000238.4(KCNH2):c.3103dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.4431722079668878e-06,2.0,1385836.0,1.8602055527135749e-06,2.0,nfe,1.2889697109428708,1.8602055527135749e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.83; detectability=0.38,857501,857501,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.840681843191019,-5.730439063590216,0.11024271213623696,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1283790722622535,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+11:2588804:C:CA,KCNQ1,VCV001068919,1068919,NM_000218.3(KCNQ1):c.1344dup (p.Glu449fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.3687567582364937e-06,2.0,1461180.0,1.7986646713479913e-06,2.0,nfe,1.3140861927718974,1.7986646713479913e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.64; detectability=0.38,1068919,1068919,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.863673723481508,-5.745049795496874,0.11862385214731218,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1429898041689115,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150948455:C:CGCCT,KCNH2,VCV000519280,519280,NM_000238.4(KCNH2):c.2677_2680dup (p.Arg894fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,8.697558073595258e-07,1.0,1149748.0,1.1272305073664514e-06,1.0,nfe,1.2960306810228792,1.1272305073664514e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.83; detectability=0.38,519280,519280,Cardiovascular phenotype|Long QT syndrome 2|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome 2|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome 2|Long QT syndrome,variation_id,-6.060602662786437,-5.947987265993787,0.11261528273921749,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.3459272746658248,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:82443436:G:GGCCAGCAGGCA,CACNA2D1,VCV001802180,1802180,NM_000722.4(CACNA2D1):c.13_23dup (p.Leu9fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,duplication,LOF,6.870028675499691e-07,1.0,1455598.0,9.019003039404024e-07,1.0,nfe,1.3128038232984225,9.019003039404024e-07,popmax,0.0,False,False,False,False,True,0.75,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.75; detectability=0.38,1802180,1802180,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,variation_id,-6.163041450191499,-6.0448414667169414,0.11819983284926416,anchored_exact,1.0,Brugada,gene_context_fallback,1,-0.0,Brugada,provocation_dependent,0.8,limited,0.25,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.442781475388979,False,False,False,False,False,False,False,False,False,unknown_or_insufficient,unknown_or_insufficient
+3:38581146:T:TGCAGCTGG,SCN5A,VCV002104041,2104041,NM_000335.5(SCN5A):c.3005_3012dup (p.Ile1005fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.846370191451896e-07,1.0,1460628.0,8.996883479562679e-07,1.0,nfe,1.314109533501488,8.996883479562679e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.66; detectability=0.38,2104041,2104041,,,,unmatched,-6.164539621739457,-6.0459079041190815,0.1186315659944688,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4438479127911195,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+11:2445314:G:GC,KCNQ1,VCV001787905,1787905,NM_000218.3(KCNQ1):c.221dup (p.Val75fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1325352.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.64; detectability=0.38,1787905,1787905,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+11:2847842:A:AC,KCNQ1,VCV001306529,1306529,NM_000218.3(KCNQ1):c.1875dup (p.Gly626fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1417300.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.64; detectability=0.38,1306529,1306529,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150958081:C:CG,KCNH2,VCV003645049,3645049,NM_000238.4(KCNH2):c.893dup (p.Pro299fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1121302.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.83; detectability=0.38,3645049,3645049,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150947472:T:TC,KCNH2,VCV000864600,864600,NM_000238.4(KCNH2):c.3007dup (p.Asp1003fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1424464.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.83; detectability=0.38,864600,864600,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+6:123512339:T:TC,TRDN,VCV000532312,532312,NM_006073.4(TRDN):c.573dup (p.Lys192fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1354634.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,532312,532312,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+7:150947795:GC:G,KCNH2,VCV001074305,1074305,NM_000238.4(KCNH2):c.2775del (p.Pro926fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,7.97089897247866e-06,,,7.97089897247866e-06,,,1.2545634789706644e-07,7.97089897247866e-06,global,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,1074305,1074305,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,variation_id,-5.098492695320329,-5.098492695320329,-6.9015073591646745,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-0.49643270399236605,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision
+6:123503830:CCT:C,TRDN,VCV003592999,3592999,NM_006073.4(TRDN):c.680_681del (p.Gln227fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,4.12401745284186e-06,6.0,1454892.0,5.414810589925564e-06,6.0,nfe,1.3129940255709134,5.414810589925564e-06,popmax,0.0,False,False,False,False,True,0.390625,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,3592999,3592999,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,-5.384679505450385,-5.266416730393942,0.11826274995277866,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.2664167303939426,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+3:38613790:C:CTGAAT,SCN5A,VCV002861576,2861576,NM_000335.5(SCN5A):c.655_656insATTCA (p.Arg219fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,4.113674539782661e-06,6.0,1458550.0,5.403010557482629e-06,6.0,nfe,1.3134267652446132,5.403010557482629e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.5866666666666666,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=insertion; gene_constraint=0.66; detectability=0.59,2861576,2861576,,,,unmatched,-5.385770071213905,-5.267364183848557,0.11840586217207445,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-0.6653041925205951,True,False,True,False,True,True,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision|sads_sensitive
+7:150947387:AC:A,KCNH2,VCV000917819,917819,NM_000238.4(KCNH2):c.3092del (p.Gly1031fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.604154292403596e-06,5.0,1387288.0,4.655415458586356e-06,5.0,nfe,1.2916803192133486,4.655415458586356e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,917819,917819,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,variation_id,-5.443196625321954,-5.332041555644992,0.11115504246668188,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-0.7299815643170293,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision
+11:2570664:GTGGTCCGCCTC:G,KCNQ1,VCV000519537,519537,NM_000218.3(KCNQ1):c.524_534del (p.Leu175fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.0543273721318167e-06,3.0,1460332.0,2.6979242171073577e-06,3.0,nfe,1.3132882034373443,2.6979242171073577e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,519537,519537,Cardiovascular phenotype|Long QT syndrome||Long QT syndrome 1,Cardiovascular phenotype|Long QT syndrome||Long QT syndrome 1,Cardiovascular phenotype|Long QT syndrome||Long QT syndrome 1,variation_id,-5.687330347213235,-5.568970253535253,0.11836004324685971,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-0.9669102622072909,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary
+7:150947472:TC:T,KCNH2,VCV000837649,837649,NM_000238.4(KCNH2):c.3007del (p.Asp1003fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.404040829507322e-06,2.0,1424460.0,1.8277793212358715e-06,2.0,nfe,1.3017990510134867,1.8277793212358715e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,837649,837649,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.8526202627390465,-5.738076240415614,0.11454395061364096,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.136016249087652,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150950047:GCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGC:G,KCNH2,VCV004537402,4537402,NM_000238.4(KCNH2):c.2398+86_2398+120del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,1.3735848641936646e-06,2.0,1456044.0,1.802292155162936e-06,2.0,nfe,1.3121081121644589,1.802292155162936e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,4537402,4537402,,,,unmatched,-5.862144503398529,-5.744174807646243,0.11796962054425542,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1421148163182806,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+3:38587442:CA:C,SCN5A,VCV003385945,3385945,NM_000335.5(SCN5A):c.2393del (p.Leu798fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3683877792024215e-06,2.0,1461574.0,1.7988749835852655e-06,2.0,nfe,1.3145942227279572,1.7988749835852655e-06,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.66; detectability=0.60,3385945,3385945,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,-5.863790813066815,-5.744999017769321,0.11879171934638616,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.1429390264413588,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:115702951:CCTGAATAGGT:C,CASQ2,VCV002988469,2988469,NM_001232.4(CASQ2):c.974_983del (p.Asp325fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3685694343702527e-06,2.0,1461380.0,1.7988458604959058e-06,2.0,nfe,1.3143984520779486,1.7988458604959058e-06,popmax,0.0,False,False,False,False,False,0.5125,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.51; detectability=0.60,2988469,2988469,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.863733163764354,-5.745006048885716,0.11872703897356557,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.745006048885716,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+11:2572033:TC:T,KCNQ1,VCV000656121,656121,NM_000218.3(KCNQ1):c.706del (p.Ile235_Leu236insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3692440403653143e-06,2.0,1460660.0,1.798784381514972e-06,2.0,nfe,1.3137059682429495,1.798784381514972e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,656121,656121,Long QT syndrome||Cardiovascular phenotype|Cardiac arrhythmia,Long QT syndrome||Cardiovascular phenotype|Cardiac arrhythmia,Long QT syndrome||Cardiovascular phenotype|Cardiac arrhythmia,variation_id,-5.863519140661796,-5.745020891979852,0.11849817294146892,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.14296090065189,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+11:2445114:TC:T,KCNQ1,VCV000523933,523933,NM_000218.3(KCNQ1):c.20del (p.Pro7fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.0542451288603822e-06,1.0,948546.0,1.1995470510335298e-06,1.0,nfe,1.1378254263358936,1.1995470510335298e-06,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,523933,523933,,,,unmatched,-5.977058396966116,-5.920982712595298,0.05607563447129593,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.3189227212673353,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150948442:AC:A,KCNH2,VCV003076027,3076027,NM_000238.4(KCNH2):c.2692+1del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,8.761063032344092e-07,1.0,1141414.0,1.1032048099729716e-06,1.0,nfe,1.2592131191010063,1.1032048099729716e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3076027,3076027,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,-6.057443195079471,-5.957343853304137,0.10009923973186871,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.3552838619761753,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+11:2445294:TCCCCGGCCGCG:T,KCNQ1,VCV000449221,449221,NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,8.033277046838826e-07,1.0,1244822.0,9.895679744137304e-07,1.0,nfe,1.2318356964514732,9.895679744137304e-07,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,449221,449221,"Long QT syndrome|Cardiovascular phenotype|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1|Long QT syndrome 1|KCNQ1-related disorder","Long QT syndrome|Cardiovascular phenotype|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1|Long QT syndrome 1|KCNQ1-related disorder","Long QT syndrome|Cardiovascular phenotype|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1|Long QT syndrome 1|KCNQ1-related disorder",variation_id,-6.095107255090803,-6.004554368310682,0.09055278503372446,anchored_exact,1.0,LQTS|SQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.40249437698272,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+3:38581308:CAG:C,SCN5A,VCV001332487,1332487,NM_000335.5(SCN5A):c.2849_2850del (p.Pro950fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.857957974433533e-07,1.0,1458160.0,9.016856110813556e-07,1.0,nfe,1.314801431623534,9.016856110813556e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,1332487,1332487,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,-6.163805180569505,-6.044944860654155,0.11886016829204983,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.4428848693261924,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+7:150947652:CA:C,KCNH2,VCV000858435,858435,NM_000238.4(KCNH2):c.2918del (p.Leu973fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.85348348858758e-07,1.0,1459112.0,9.000819074535783e-07,1.0,nfe,1.3133198549796452,9.000819074535783e-07,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,858435,858435,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,variation_id,-6.164088629189619,-6.045717967964516,0.11837051004651916,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4436579766365543,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+12:2584592:GAGA:G,CACNA1C,VCV000411734,411734,NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,missense,6.845132973553145e-07,1.0,1460892.0,8.998033029979646e-07,1.0,nfe,1.3145149874508737,8.998033029979646e-07,popmax,0.0,False,False,False,False,False,0.7307692307692307,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.73; detectability=0.60,411734,411734,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,-6.16461811084344,-6.045852416959342,0.11876554208186885,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-1.4437924256313794,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+3:38557229:AC:A,SCN5A,VCV001327132,1327132,NM_000335.5(SCN5A):c.4296+1del,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,6.843736954126432e-07,1.0,1461190.0,8.99647877820621e-07,1.0,nfe,1.314556022966598,8.99647877820621e-07,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.66; detectability=0.60,1327132,1327132,SUDDEN INFANT DEATH SYNDROME|Cardiovascular phenotype|Brugada syndrome 1,SUDDEN INFANT DEATH SYNDROME|Cardiovascular phenotype|Brugada syndrome 1,SUDDEN INFANT DEATH SYNDROME|Cardiovascular phenotype|Brugada syndrome 1,variation_id,-6.164706691352855,-6.045927440163924,0.11877909934066631,anchored_exact,1.0,Brugada|SADS,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4438674488359615,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+3:38604874:CG:C,SCN5A,VCV003629463,3629463,NM_000335.5(SCN5A):c.1372del (p.Arg458fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.843924306197174e-07,1.0,1461150.0,8.99566948471006e-07,1.0,nfe,1.3144017873702387,8.99566948471006e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,3629463,3629463,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,-6.164694802401345,-6.045966509617412,0.11872814099646971,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.4439065182894497,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+6:123570976:CACGTGATTATCAGGGCA:C,TRDN,VCV001677487,1677487,NM_006073.4(TRDN):c.162_178del (p.Ile54fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.84147080675992e-07,1.0,1461674.0,8.994148407046376e-07,1.0,nfe,1.314650827955176,8.994148407046376e-07,popmax,0.0,False,False,False,False,True,0.390625,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,1677487,1677487,,,,unmatched,-6.16485052187741,-6.046039950676286,0.11881041926773844,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.0460399506762856,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+11:2768851:GAACACCATCGGGCCACCATT:G,KCNQ1,VCV002009452,2009452,NM_000218.3(KCNQ1):c.1525_1544del (p.His509fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.841161902937595e-07,1.0,1461740.0,8.99363071073066e-07,1.0,nfe,1.3146345155964867,8.99363071073066e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,2009452,2009452,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.16487013144062,-6.046064949054553,0.11880503045181316,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440049577265899,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+4:113359097:ACAGT:A,ANK2,VCV000570614,570614,NM_001148.6(ANK2):c.10483_10486del (p.Ser3495fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.841218065194071e-07,1.0,1461728.0,8.993468942853699e-07,1.0,nfe,1.3146000772302235,8.993468942853699e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.61; detectability=0.60,570614,570614,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164866566131348,-6.0460727607526765,0.11879365345831436,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4440127694247145,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+4:113358978:AG:A,ANK2,VCV001342783,1342783,NM_001148.6(ANK2):c.10367del (p.Gly3456fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.84114318239035e-07,1.0,1461744.0,8.993291004910337e-07,1.0,nfe,1.3145884568203765,8.993291004910337e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.61; detectability=0.60,1342783,1342783,,,,unmatched,-6.16487131987054,-6.046081353458328,0.11878981449446016,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4440213621303657,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+7:150951697:AG:A,KCNH2,VCV000405341,405341,NM_000238.4(KCNH2):c.1695del (p.Cys566fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840890465030052e-07,1.0,1461798.0,8.992999848917603e-07,1.0,nfe,1.3145944594412535,8.992999848917603e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,405341,405341,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164887363356165,-6.0460954138826875,0.11879179754790824,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440354225547252,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150949032:CA:C,KCNH2,VCV000418689,418689,NM_000238.4(KCNH2):c.2415del (p.Phe805fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840675202005138e-07,1.0,1461844.0,8.992918975598614e-07,1.0,nfe,1.3146240047652844,8.992918975598614e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,418689,418689,,,,unmatched,-6.16490102956165,-6.046099319475336,0.11880155814511069,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440393281473738,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150951021:TC:T,KCNH2,VCV000810745,810745,NM_000238.4(KCNH2):c.2044del (p.Glu682fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840656484121468e-07,1.0,1461848.0,8.992789581313703e-07,1.0,nfe,1.3146086864763482,8.992789581313703e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,810745,810745,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164902217907022,-6.046105568350519,0.11879649762051017,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.444045577022557,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150948956:TGTAGGTCACA:T,KCNH2,VCV000503760,503760,NM_000238.4(KCNH2):c.2482_2491del (p.Cys828fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840478669335365e-07,1.0,1461886.0,8.992757233324281e-07,1.0,nfe,1.3146381301144725,8.992757233324281e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,503760,503760,,,,unmatched,-6.164913507025877,-6.046107130555266,0.11880622451985212,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440471392273042,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+3:38551026:GCT:G,SCN5A,VCV002428920,2428920,NM_000335.5(SCN5A):c.5341_5342del (p.Ser1781fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840441235821475e-07,1.0,1461894.0,8.992708711776492e-07,1.0,nfe,1.3146382309816362,8.992708711776492e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,2428920,2428920,,,,unmatched,-6.164915883645086,-6.046109473851851,0.11880625784160807,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4440494825238885,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+11:2445203:CT:C,KCNQ1,VCV003862980,3862980,NM_000218.3(KCNQ1):c.107del (p.Phe36fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,998778.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,3862980,3862980,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+11:2445284:GC:G,KCNQ1,VCV003076068,3076068,NM_000218.3(KCNQ1):c.191del (p.Pro64fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1165068.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,3076068,3076068,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+11:2572978:TG:T,KCNQ1,VCV001457672,1457672,NM_000218.3(KCNQ1):c.919del (p.Val307fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1460810.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,1457672,1457672,Long QT syndrome|Cardiovascular phenotype|Congenital long QT syndrome,Long QT syndrome|Cardiovascular phenotype|Congenital long QT syndrome,Long QT syndrome|Cardiovascular phenotype|Congenital long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+11:2445270:GC:G,KCNQ1,VCV000635221,635221,NM_000218.3(KCNQ1):c.176del (p.Pro59fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1083286.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,635221,635221,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+11:2445294:TC:T,KCNQ1,VCV000405258,405258,NM_000218.3(KCNQ1):c.200del (p.Pro67fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1244822.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,405258,405258,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150958217:GC:G,KCNH2,VCV004727450,4727450,NM_000238.4(KCNH2):c.757del (p.Ala253fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1219196.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,4727450,4727450,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150977840:TG:T,KCNH2,VCV004528252,4528252,NM_000238.4(KCNH2):c.73del (p.Gln25fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,982894.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,4528252,4528252,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150958426:GC:G,KCNH2,VCV003720792,3720792,NM_000238.4(KCNH2):c.548del (p.Gly183fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1297264.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3720792,3720792,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150958200:CG:C,KCNH2,VCV003644294,3644294,NM_000238.4(KCNH2):c.774del (p.Asp259fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1212186.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3644294,3644294,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150948519:CG:C,KCNH2,VCV003376533,3376533,NM_000238.4(KCNH2):c.2616del (p.Gly873fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1461446.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3376533,3376533,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150947431:C:CGGGGGGGGGGGGG,KCNH2,VCV003076044,3076044,NM_000238.4(KCNH2):c.3048_3049insCCCCCCCCCCCCC (p.Ala1017fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,0.0,0.0,1294084.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.5866666666666666,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=insertion; gene_constraint=0.83; detectability=0.59,3076044,3076044,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150947425:T:TGGGGGGG,KCNH2,VCV003076029,3076029,NM_000238.4(KCNH2):c.3054_3055insCCCCCCC (p.Thr1019fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,0.0,0.0,1287706.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.5866666666666666,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=insertion; gene_constraint=0.83; detectability=0.59,3076029,3076029,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150958228:TG:T,KCNH2,VCV002584422,2584422,NM_000238.4(KCNH2):c.746del (p.Pro249fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1225122.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,2584422,2584422,KCNH2-related disorder,KCNH2-related disorder,KCNH2-related disorder,variation_id,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150974709:AC:A,KCNH2,VCV001382290,1382290,NM_000238.4(KCNH2):c.307+1del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,0.0,0.0,1438648.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,1382290,1382290,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150958305:CT:C,KCNH2,VCV001070517,1070517,NM_000238.4(KCNH2):c.669del (p.Leu225fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1328332.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,1070517,1070517,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150947808:GC:G,KCNH2,VCV000653333,653333,NM_000238.4(KCNH2):c.2762del (p.Gly921fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1378096.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,653333,653333,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150977867:TC:T,KCNH2,VCV000638156,638156,NM_000238.4(KCNH2):c.46del (p.Asp16fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1392070.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,638156,638156,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150947425:TG:T,KCNH2,VCV000523705,523705,NM_000238.4(KCNH2):c.3054del (p.Thr1019fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1287714.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,523705,523705,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150947678:CG:C,KCNH2,VCV000418247,418247,NM_000238.4(KCNH2):c.2892del (p.Gly965fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1451776.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,418247,418247,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,0.0,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+3:38603785:GC:G,SCN5A,VCV001254662,1254662,NM_000335.5(SCN5A):c.1816del (p.Ala606fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1413208.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.66; detectability=0.60,1254662,1254662,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+12:2585484:AC:A,CACNA1C,VCV001334090,1334090,NM_000719.7(CACNA1C):c.2451del (p.Ala818fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1402792.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.73; detectability=0.60,1334090,1334090,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:115705187:C:G,CASQ2,VCV001455253,1455253,NM_001232.4(CASQ2):c.939+5G>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,3.47015940524244e-06,5.0,1440856.0,4.575293779613589e-06,5.0,nfe,1.3184678070505331,4.575293779613589e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,1455253,1455253,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,-5.459650574999586,-5.33958101465353,0.12006953011656153,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.33958101465353,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:115726991:C:T,CASQ2,VCV002202832,2202832,NM_001232.4(CASQ2):c.737+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.4284758230741907e-06,5.0,1458374.0,4.505194489246101e-06,5.0,nfe,1.3140516100110182,4.505194489246101e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,2202832,2202832,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,-5.464898908745636,-5.346286455787436,0.11861242268405969,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.3462864557874368,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:115744903:G:A,CASQ2,VCV002914975,2914975,NM_001232.4(CASQ2):c.244C>T (p.Gln82Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.423808617315433e-06,5.0,1460362.0,4.501244143881369e-06,5.0,nfe,1.3146890881773796,4.501244143881369e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2914975,2914975,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.465490519335655,-5.346667430637412,0.11882305833602977,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.3466674306374116,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:115702947:G:A,CASQ2,VCV001425730,1425730,NM_001232.4(CASQ2):c.988C>T (p.Gln330Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.4213767620090325e-06,5.0,1461400.0,4.497138920218957e-06,5.0,nfe,1.314423671701846,4.497138920218957e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,1425730,1425730,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.4657990986731795,-5.347063696520862,0.11873537178801932,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.3470636965208613,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:115725508:C:T,CASQ2,VCV000427947,427947,NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.738473082178839e-06,4.0,1460668.0,3.598442594045297e-06,4.0,nfe,1.3140323720654798,3.598442594045297e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,427947,427947,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.5624915236118255,-5.443885421221095,0.11860606449029754,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.443885421221095,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:115738281:C:A,CASQ2,VCV000654552,654552,NM_001232.4(CASQ2):c.475G>T (p.Glu159Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.7365508786380734e-06,4.0,1461694.0,3.597652891253746e-06,4.0,nfe,1.314666796320421,3.597652891253746e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,654552,654552,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.562796472934832,-5.443980740569425,0.11881569438006946,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.443980740569425,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:237388137:G:T,RYR2,VCV002626900,2626900,NM_001035.3(RYR2):c.727G>T (p.Glu243Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052595712538076e-06,3.0,1461564.0,2.698200839680101e-06,3.0,nfe,1.3145309174463802,2.698200839680101e-06,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,2626900,2626900,RYR2-related disorder,RYR2-related disorder,RYR2-related disorder,variation_id,-5.68769658258466,-5.568925726895951,0.11877080506273381,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,-0.9668657355679884,True,False,True,False,True,True,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision|sads_sensitive
+7:150959571:C:T,KCNH2,VCV000419715,419715,NM_000238.4(KCNH2):c.472+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.0523569951851703e-06,3.0,1461734.0,2.698021271199702e-06,3.0,nfe,1.3145963216598953,2.698021271199702e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,419715,419715,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.68774709406998,-5.568954630672922,0.11879241275718556,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-0.9668946393449595,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary
+17:70175754:G:T,KCNJ2,VCV000463523,463523,NM_000891.3(KCNJ2):c.715G>T (p.Glu239Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052146408333356e-06,3.0,1461884.0,2.6978320221869704e-06,3.0,nfe,1.3146390026523511,2.6978320221869704e-06,popmax,0.0,False,False,False,False,True,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,463523,463523,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,-5.687791658149379,-5.568985094733933,0.11880651276515058,anchored_exact,1.0,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-0.9669251034059707,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision
+15:73343471:G:A,HCN4,VCV000571947,571947,NM_005477.3(HCN4):c.1123C>T (p.Arg375Cys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0521492158737845e-06,3.0,1461882.0,2.6978320221869704e-06,3.0,nfe,1.314637204098756,2.6978320221869704e-06,popmax,0.0,False,False,False,False,False,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.50; detectability=0.81,571947,571947,Brugada syndrome 8||Cardiovascular phenotype,Brugada syndrome 8||Cardiovascular phenotype,Brugada syndrome 8||Cardiovascular phenotype,variation_id,-5.687791063991733,-5.568985094733933,0.11880591860779292,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,-0.9669251034059707,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary
+3:38585690:C:A,SCN5A,VCV000406420,406420,NM_000335.5(SCN5A):c.2787+1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.5024444771643463e-06,1.0,665582.0,2.0315788618282585e-06,1.0,nfe,1.3521820876073176,2.0315788618282585e-06,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,406420,406420,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,-5.823201568381257,-5.6921663145671575,0.13103517852745789,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.0901063232391948,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:115726990:A:T,CASQ2,VCV001033372,1033372,NM_001232.4(CASQ2):c.737+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.5389374252653512e-06,2.0,1299598.0,1.9958008350430693e-06,2.0,nfe,1.296869193904846,1.9958008350430693e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,1033372,1033372,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,-5.812779038657447,-5.699882800001281,0.11289617405620116,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.6998828000012813,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+7:150958430:G:T,KCNH2,VCV000372376,372376,NM_000238.4(KCNH2):c.545C>A (p.Ser182Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.5324754535744223e-06,2.0,1305078.0,1.915719822144572e-06,2.0,nfe,1.2500817338343122,1.915719822144572e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,372376,372376,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,-5.814606473065701,-5.717668007049792,0.09693840932227195,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.115608015721829,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+1:115740727:C:T,CASQ2,VCV002997913,2997913,NM_001232.4(CASQ2):c.420+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3897903223340694e-06,2.0,1439066.0,1.832653113586008e-06,2.0,nfe,1.318654163495695,1.832653113586008e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,2997913,2997913,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,-5.857050716812234,-5.7369197309527955,0.12013091034609931,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.736919730952795,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+12:2566466:G:A,CACNA1C,VCV000372313,372313,NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.385381180704965e-06,2.0,1443646.0,1.8129572051451725e-06,2.0,nfe,1.3086339859103944,1.8129572051451725e-06,popmax,0.0,False,False,False,False,False,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.73; detectability=0.81,372313,372313,Hypertrophic cardiomyopathy 1|Long QT syndrome|Long QT syndrome 8|Cardiac arrhythmia|Timothy syndrome|Cardiovascular phenotype,Hypertrophic cardiomyopathy 1|Long QT syndrome|Long QT syndrome 8|Cardiac arrhythmia|Timothy syndrome|Cardiovascular phenotype,Hypertrophic cardiomyopathy 1|Long QT syndrome|Long QT syndrome 8|Cardiac arrhythmia|Timothy syndrome|Cardiovascular phenotype,variation_id,-5.858430716202212,-5.741612447304745,0.11681819496408928,anchored_exact,1.0,LQTS|arrhythmia|cardiomyopathy_overlap,assertion_condition_label,3,1.584962500721156,LQTS,structural_electrical,0.7,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-1.1395524559767827,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+3:38575391:C:T,SCN5A,VCV004757644,4757644,NM_000335.5(SCN5A):c.3569G>A (p.Trp1190Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3728588550082577e-06,2.0,1456814.0,1.802120013984452e-06,2.0,nfe,1.3126766052705447,1.802120013984452e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4757644,4757644,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,-5.862374110718113,-5.744216290118542,0.11815774524735485,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.1421562987905798,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+3:38557230:C:T,SCN5A,VCV001739478,1739478,NM_000335.5(SCN5A):c.4296+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3704318367760864e-06,2.0,1459394.0,1.8015648392193456e-06,2.0,nfe,1.3145962289239144,1.8015648392193456e-06,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,1739478,1739478,Cardiovascular phenotype|Brugada syndrome|Brugada syndrome 1,Cardiovascular phenotype|Brugada syndrome|Brugada syndrome 1,Cardiovascular phenotype|Brugada syndrome|Brugada syndrome 1,variation_id,-5.863142560743384,-5.744350102784581,0.11879238212061255,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.1422901114566184,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+3:38579405:C:A,SCN5A,VCV003376789,3376789,NM_000335.5(SCN5A):c.3316G>T (p.Glu1106Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.370383008347003e-06,2.0,1459446.0,1.8000990054452994e-06,2.0,nfe,1.313573417728825,1.8000990054452994e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3376789,3376789,Sick sinus syndrome 1,Sick sinus syndrome 1,Sick sinus syndrome 1,variation_id,-5.863158034913302,-5.744703608043295,0.1184543512168256,anchored_exact,1.0,conduction,assertion_condition_label,1,-0.0,conduction,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.1426436167153324,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+3:38554314:A:G,SCN5A,VCV002505148,2505148,NM_000335.5(SCN5A):c.4775T>C (p.Ile1592Thr),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,1.3689291414897782e-06,2.0,1460996.0,1.7997555931904448e-06,2.0,nfe,1.3147176314138331,1.7997555931904448e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2505148,2505148,Primary dilated cardiomyopathy,Primary dilated cardiomyopathy,Primary dilated cardiomyopathy,variation_id,-5.863619031235198,-5.744786468083148,0.11883248720832675,anchored_exact,1.0,cardiomyopathy_overlap,assertion_condition_label,1,-0.0,cardiomyopathy_overlap,structural_electrical,0.7,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.1427264767551852,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+11:2445453:G:A,KCNQ1,VCV002801649,2801649,NM_000218.3(KCNQ1):c.355G>A (p.Gly119Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.3843723740186531e-06,2.0,1444698.0,1.7994155498294154e-06,2.0,nfe,1.299805806439304,1.7994155498294154e-06,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,2801649,2801649,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.858747075898401,-5.744868530841418,0.11387847269792188,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.142808539513456,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+1:115768427:C:A,CASQ2,VCV000488772,488772,NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.368531975749613e-06,2.0,1461420.0,1.7992245342257486e-06,2.0,nfe,1.3147111294415277,1.7992245342257486e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,488772,488772,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,-5.863745050844741,-5.744914635492492,0.1188303393876778,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.744914635492492,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+3:38606149:C:T,SCN5A,VCV000463294,463294,NM_000335.5(SCN5A):c.1141-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3687398969886353e-06,2.0,1461198.0,1.7989623585116103e-06,2.0,nfe,1.314319870524441,1.7989623585116103e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,463294,463294,,,,unmatched,-5.86367907344012,-5.744977923737119,0.11870107382181504,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.142917932409157,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+3:38585786:C:A,SCN5A,VCV002844180,2844180,NM_000335.5(SCN5A):c.2692G>T (p.Glu898Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.368183708762943e-06,2.0,1461792.0,1.7986646713479913e-06,2.0,nfe,1.314636583662941,1.7986646713479913e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2844180,2844180,,,,unmatched,-5.863855585111937,-5.745049795496874,0.11880571364484684,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.1429898041689115,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+11:2776984:A:C,KCNQ1,VCV003384908,3384908,NM_000218.3(KCNQ1):c.1686-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3682061722516842e-06,2.0,1461768.0,1.7986582009820674e-06,2.0,nfe,1.3146102706229643,1.7986582009820674e-06,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,3384908,3384908,Jervell and Lange-Nielsen syndrome,Jervell and Lange-Nielsen syndrome,Jervell and Lange-Nielsen syndrome,variation_id,-5.863848454717783,-5.745051357794347,0.11879702095930023,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1429913664663844,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+4:113355864:C:T,ANK2,VCV002499833,2499833,NM_001148.6(ANK2):c.7246C>T (p.Arg2416Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681743491936664e-06,2.0,1461802.0,1.7986290849114804e-06,2.0,nfe,1.31461956683513,1.7986290849114804e-06,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2499833,2499833,,,,unmatched,-5.863858556074949,-5.745058388063428,0.1188000920439111,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.1429983967354658,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+4:113311389:C:T,ANK2,VCV003337797,3337797,NM_001148.6(ANK2):c.2683C>T (p.Arg895Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681537585920056e-06,2.0,1461824.0,1.7985837951197228e-06,2.0,nfe,1.3146062489090642,1.7985837951197228e-06,popmax,0.0,False,False,False,False,False,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.61; detectability=0.81,3337797,3337797,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-5.863865092122038,-5.745069323811355,0.11879569234437509,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.1430093324833928,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+7:150952811:G:A,KCNH2,VCV003340202,3340202,NM_000238.4(KCNH2):c.1171C>T (p.Gln391Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681780930060105e-06,2.0,1461798.0,1.7985611510791366e-06,2.0,nfe,1.3145663168463837,1.7985611510791366e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,3340202,3340202,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,-5.863857367692184,-5.7450747915820575,0.11878250015250426,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1430148002540952,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+11:2662047:G:T,KCNQ1,VCV002773480,2773480,NM_000218.3(KCNQ1):c.1480G>T (p.Glu494Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3680994772491897e-06,2.0,1461882.0,1.7985417423552984e-06,2.0,nfe,1.3146276697246606,1.7985417423552984e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.64; detectability=0.81,2773480,2773480,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id,-5.863882323047414,-5.745079478187869,0.11880276888628769,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1430194868599073,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+4:113373351:C:T,ANK2,VCV000985692,985692,NM_001148.6(ANK2):c.11761C>T (p.Gln3921Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681575022916638e-06,,,1.3681575022916638e-06,,,7.309094657709624e-07,1.3681575022916638e-06,global,0.0,False,False,False,False,False,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.61; detectability=0.81,985692,985692,"Cardiac arrhythmia, ankyrin-B-related||Cardiovascular phenotype","Cardiac arrhythmia, ankyrin-B-related||Cardiovascular phenotype","Cardiac arrhythmia, ankyrin-B-related||Cardiovascular phenotype",variation_id,-5.8638639037571565,-5.8638639037571565,-6.136136413672907,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.261803912429194,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:237491910:G:A,RYR2,VCV004800056,4800056,NM_001035.3(RYR2):c.1813G>A (p.Gly605Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,8.828400611631594e-07,1.0,1132708.0,1.188591424075157e-06,1.0,nfe,1.346326622494387,1.188591424075157e-06,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,4800056,4800056,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.054117967821953,-5.924967407588051,0.12915043369103862,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,-1.3229074162600885,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+6:123265339:C:A,TRDN,VCV003780743,3780743,NM_006073.4(TRDN):c.1784-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.908301660585183e-07,1.0,1264494.0,1.009801129765504e-06,1.0,nfe,1.2768871196595997,1.009801129765504e-06,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,3780743,3780743,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.101916772966249,-5.995764147751594,0.10615250613124208,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.9957641477515944,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+6:123547339:C:A,TRDN,VCV002434223,2434223,NM_006073.4(TRDN):c.424+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.672194738715736e-07,1.0,1303408.0,9.723786131158318e-07,1.0,nfe,1.2674057148253322,9.723786131158318e-07,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,2434223,2434223,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,-6.115080382261232,-6.01216460177021,0.10291566105931012,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-3.0121646017702104,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+7:150948443:C:T,KCNH2,VCV003253477,3253477,NM_000238.4(KCNH2):c.2692+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.140001142400183e-07,1.0,1400560.0,9.379947922529134e-07,1.0,nfe,1.3137175468574929,9.379947922529134e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3253477,3253477,,,,unmatched,-6.146301718736703,-6.027799572817206,0.11850200066728123,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4257395814892433,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150947870:G:A,KCNH2,VCV000927383,927383,NM_000238.4(KCNH2):c.2701C>T (p.Gln901Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.256662341695911e-07,1.0,1378044.0,9.289001265161972e-07,1.0,nfe,1.2800648600031863,9.289001265161972e-07,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,927383,927383,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id,-6.139263084518002,-6.032030977970395,0.10723197560711273,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4299709866424328,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+1:115740830:T:C,CASQ2,VCV003236407,3236407,NM_001232.4(CASQ2):c.320-2A>G,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.904131984910329e-07,1.0,1448408.0,9.091454578183782e-07,1.0,nfe,1.3168130953931796,9.091454578183782e-07,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,3236407,3236407,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,-6.160890914892737,-6.04136662670755,0.11952413684504527,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-3.0413666267075494,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+3:38622399:C:G,SCN5A,VCV001743359,1743359,NM_000335.5(SCN5A):c.482+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.915447588514272e-07,1.0,1446038.0,9.088017448993502e-07,1.0,nfe,1.3141614033014393,9.088017448993502e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,1743359,1743359,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-6.160179705803235,-6.04153084778685,0.11864870788618453,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4394708564588883,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+7:150947500:C:T,KCNH2,VCV003544410,3544410,NM_000238.4(KCNH2):c.2980G>A (p.Val994Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.956705638131652e-07,1.0,1437462.0,9.081860255599876e-07,1.0,nfe,1.3054824615540808,9.081860255599876e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3544410,3544410,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,-6.1575963727297065,-6.041825184959691,0.11577104168830236,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.439765193631729,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+3:38609733:C:T,SCN5A,VCV001072847,1072847,NM_000335.5(SCN5A):c.934+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.89303389994072e-07,1.0,1450740.0,9.06547630919076e-07,1.0,nfe,1.315164452857862,9.06547630919076e-07,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,1072847,1072847,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,variation_id,-6.161589585640299,-6.042609372702631,0.11898006195364752,anchored_exact,1.0,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.4405493813746684,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+3:38556452:G:A,SCN5A,VCV002506125,2506125,NM_000335.5(SCN5A):c.4423C>T (p.Gln1475Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.918940461133544e-07,1.0,1445308.0,9.058397678151508e-07,1.0,nfe,1.3092170162275525,9.058397678151508e-07,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,2506125,2506125,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),variation_id,-6.159960406571302,-6.042948617011904,0.11701164130882298,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.4408886256839415,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:115768539:C:T,CASQ2,VCV002811031,2811031,NM_001232.4(CASQ2):c.3G>A (p.Met1Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.879301283127276e-07,1.0,1453636.0,9.052477210388624e-07,1.0,nfe,1.3159002170161198,9.052477210388624e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2811031,2811031,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.162455669946475,-6.043232559845933,0.11922295854672765,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-3.0432325598459324,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+12:2448979:C:T,CACNA1C,VCV001208559,1208559,NM_000719.7(CACNA1C):c.481C>T (p.Arg161Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.877020984541832e-07,1.0,1454118.0,9.03404389099884e-07,1.0,nfe,1.3136561273761245,9.03404389099884e-07,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,1208559,1208559,,,,unmatched,-6.162599650449773,-6.044117803793188,0.11848169587234009,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-1.442057812465226,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+3:38620870:C:T,SCN5A,VCV004614939,4614939,NM_000335.5(SCN5A):c.584G>A (p.Trp195Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.886388364758219e-07,1.0,1452140.0,9.031253556056088e-07,1.0,nfe,1.3114640015997934,9.031253556056088e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4614939,4614939,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-6.16200848846908,-6.044251964559872,0.11775637413252348,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4421919732319097,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+3:38556580:T:G,SCN5A,VCV004723996,4723996,NM_000335.5(SCN5A):c.4297-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.868782892884078e-07,1.0,1455862.0,9.02880731261162e-07,1.0,nfe,1.3144692893514494,9.02880731261162e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4723996,4723996,,,,unmatched,-6.163120210499755,-6.044369615330105,0.11875044390681275,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4423096240021422,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+1:115732900:C:A,CASQ2,VCV003485292,3485292,NM_001232.4(CASQ2):c.606+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.861675483919663e-07,1.0,1457370.0,9.025515131276118e-07,1.0,nfe,1.3153510391036438,9.025515131276118e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,3485292,3485292,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-6.163569825317389,-6.044528001357354,0.11904167221773877,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.044528001357354,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+1:115705285:G:T,CASQ2,VCV002794330,2794330,NM_001232.4(CASQ2):c.846C>A (p.Tyr282Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.86050803434096e-07,1.0,1457618.0,9.023935085420568e-07,1.0,nfe,1.3153445614821466,9.023935085420568e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2794330,2794330,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.163643722727445,-6.044604037490281,0.1190395334714152,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-3.044604037490281,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+3:38556579:C:T,SCN5A,VCV002203336,2203336,NM_000335.5(SCN5A):c.4297-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.857092702407663e-07,1.0,1458344.0,9.01297146853752e-07,1.0,nfe,1.3144008278267272,9.01297146853752e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2203336,2203336,,,,unmatched,-6.163859979180978,-6.045132003733958,0.11872782395140151,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4430720124059953,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+1:115732970:G:T,CASQ2,VCV002865838,2865838,NM_001232.4(CASQ2):c.537C>A (p.Tyr179Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.853596219008038e-07,1.0,1459088.0,9.012305401795612e-07,1.0,nfe,1.31497420683443,9.012305401795612e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2865838,2865838,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.164081485698723,-6.045164099674874,0.11891723424072807,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-3.045164099674875,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+6:123636754:C:G,TRDN,VCV003225249,3225249,NM_006073.4(TRDN):c.22G>C (p.Gly8Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.851398644519292e-07,1.0,1459556.0,9.005195998090898e-07,1.0,nfe,1.3143583261953748,9.005195998090898e-07,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,3225249,3225249,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-6.1642207625816,-6.045506830322182,0.11871378065348921,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.0455068303221817,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+3:38609765:C:T,SCN5A,VCV003338801,3338801,NM_000335.5(SCN5A):c.903G>A (p.Trp301Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.850206533726992e-07,1.0,1459810.0,9.004985159784457e-07,1.0,nfe,1.3145562794180925,9.004985159784457e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3338801,3338801,,,,unmatched,-6.164296334331549,-6.0455169985611645,0.11877918406543736,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4434570072332018,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+3:38562434:G:C,SCN5A,VCV003367171,3367171,NM_000335.5(SCN5A):c.3941C>G (p.Ser1314Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,LOF,6.854404228893233e-07,1.0,1458916.0,9.002407243696964e-07,1.0,nfe,1.313375139446535,9.002407243696964e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3367171,3367171,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,-6.164030287241851,-6.0456413446868185,0.11838879137644873,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.4435813533588564,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+3:38622461:T:C,SCN5A,VCV002734486,2734486,NM_000335.5(SCN5A):c.421A>G (p.Ile141Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.851135781289822e-07,1.0,1459612.0,9.00009000090001e-07,1.0,nfe,1.3136634788123889,9.00009000090001e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2734486,2734486,,,,unmatched,-6.164237425199845,-6.045753147594141,0.1184841262490603,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4436931562661788,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+7:150974870:C:A,KCNH2,VCV003720794,3720794,NM_000238.4(KCNH2):c.148G>T (p.Glu50Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.851408032864834e-07,1.0,1459554.0,8.998972317361358e-07,1.0,nfe,1.3134481466749075,8.998972317361358e-07,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,3720794,3720794,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,-6.164220167476267,-6.045807084158768,0.11841293204597676,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4437470928308056,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+11:2572011:A:C,KCNQ1,VCV000573008,573008,NM_000218.3(KCNQ1):c.684-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.850675819169561e-07,1.0,1459710.0,8.997595842390913e-07,1.0,nfe,1.3133876052546227,8.997595842390913e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,573008,573008,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164266583243557,-6.045873518545591,0.11839291343252398,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4438135272176287,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+4:113345930:C:T,ANK2,VCV003338732,3338732,NM_001148.6(ANK2):c.4279C>T (p.Arg1427Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.843043840644669e-07,1.0,1461338.0,8.996155043334479e-07,1.0,nfe,1.3146418620735227,8.996155043334479e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3338732,3338732,,,,unmatched,-6.164750677643749,-6.045943068367087,0.11880745738149259,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4438830770391253,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+11:2572021:G:T,KCNQ1,VCV000519257,519257,NM_000218.3(KCNQ1):c.692G>T (p.Arg231Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.8483018950621e-07,1.0,1460216.0,8.9957989618848e-07,1.0,nfe,1.3135804997974945,8.9957989618848e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,519257,519257,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-6.164417102818398,-6.045960258741038,0.11845669268857806,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4439002674130756,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+3:38606682:C:A,SCN5A,VCV003338339,3338339,NM_000335.5(SCN5A):c.1127G>T (p.Arg376Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.845236057965459e-07,1.0,1460870.0,8.995620931730434e-07,1.0,nfe,1.314142816131888,8.995620931730434e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3338339,3338339,Atrial fibrillation,Atrial fibrillation,Atrial fibrillation,variation_id,-6.164611570626542,-6.045968853672857,0.11864256529042963,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.4439088623448948,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:237445485:A:T,RYR2,VCV003720290,3720290,NM_001035.3(RYR2):c.1255A>T (p.Ile419Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842641150001642e-07,1.0,1461424.0,8.995378174693842e-07,1.0,nfe,1.3146056955850631,8.995378174693842e-07,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,3720290,3720290,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.1647762351988655,-6.04598057376031,0.11879550954773074,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,-1.443920582432347,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:237441382:G:A,RYR2,VCV000519533,519533,NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842332140486764e-07,1.0,1461490.0,8.995167795860064e-07,1.0,nfe,1.3146343183622424,8.995167795860064e-07,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,519533,519533,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy,variation_id,-6.16479584811653,-6.045990730913602,0.11880496529473009,anchored_exact,1.0,CPVT|arrhythmia|cardiomyopathy_overlap,assertion_condition_label,3,1.584962500721156,CPVT,structural_electrical,0.7,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,-1.44393073958564,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:115768343:G:A,CASQ2,VCV001784131,1784131,NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842023158879988e-07,1.0,1461556.0,8.995151613280442e-07,1.0,nfe,1.3146913211909823,8.995151613280442e-07,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,1784131,1784131,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.164815460148506,-6.045991512223247,0.11882379598926718,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-3.0459915122232473,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+3:38557231:C:A,SCN5A,VCV001527872,1527872,NM_000335.5(SCN5A):c.4296G>T (p.Gly1432=),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,other_or_unresolved,6.842828442079563e-07,1.0,1461384.0,8.995119248295874e-07,1.0,nfe,1.314531875103312,8.995119248295874e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,1527872,1527872,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,-6.164764348151015,-6.04599307483832,0.11877112145313894,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.4439330835103572,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:115701358:C:T,CASQ2,VCV002574853,2574853,NM_001232.4(CASQ2):c.1083G>A (p.Trp361Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.841751652625111e-07,1.0,1461614.0,8.994730886646602e-07,1.0,nfe,1.3146819990718934,8.994730886646602e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2574853,2574853,,,,unmatched,-6.164832694233389,-6.046011825780659,0.11882071651413235,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.046011825780659,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+4:113317711:C:T,ANK2,VCV002631072,2631072,NM_001148.6(ANK2):c.2698C>T (p.Arg900Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842659878748067e-07,1.0,1461420.0,8.994682343798347e-07,1.0,nfe,1.3145004074701925,8.994682343798347e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2631072,2631072,ANK2-related disorder,ANK2-related disorder,ANK2-related disorder,variation_id,-6.164775046508722,-6.046014169591529,0.11876072506545396,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4439541782635663,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+3:38585767:C:T,SCN5A,VCV004747274,4747274,NM_000335.5(SCN5A):c.2711G>A (p.Trp904Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.841536335399477e-07,1.0,1461660.0,8.994035155884617e-07,1.0,nfe,1.3146216827251025,8.994035155884617e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4747274,4747274,,,,unmatched,-6.164846362159262,-6.046045419194488,0.11880079104354802,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4439854278665258,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+1:237784136:G:A,RYR2,VCV001009997,1009997,NM_001035.3(RYR2):c.12424G>A (p.Ala4142Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.841424001357339e-07,1.0,1461684.0,8.993986620545503e-07,1.0,nfe,1.3146361740478818,8.993986620545503e-07,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,1009997,1009997,Catecholaminergic polymorphic ventricular tachycardia 1|Paroxysmal familial ventricular fibrillation,Catecholaminergic polymorphic ventricular tachycardia 1|Paroxysmal familial ventricular fibrillation,Catecholaminergic polymorphic ventricular tachycardia 1|Paroxysmal familial ventricular fibrillation,variation_id,-6.164853493080266,-6.046047762824068,0.11880557832715535,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,-1.4439877714961054,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+4:113353464:T:C,ANK2,VCV004689790,4689790,NM_001148.6(ANK2):c.4846T>C (p.Cys1616Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840993421700726e-07,1.0,1461776.0,8.993210126354602e-07,1.0,nfe,1.314605412683571,8.993210126354602e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,4689790,4689790,,,,unmatched,-6.164880827192824,-6.046085259177423,0.11879541608809442,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4440252678494607,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+11:2585278:C:T,KCNQ1,VCV001791538,1791538,NM_000218.3(KCNQ1):c.1099C>T (p.Gln367Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.841676758139885e-07,1.0,1461630.0,8.993096898820465e-07,1.0,nfe,1.3144575624016888,8.993096898820465e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,1791538,1791538,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-6.164837448343351,-6.046090727125146,0.1187465693603854,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440307357971842,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+4:113341707:C:T,ANK2,VCV003376712,3376712,NM_001148.6(ANK2):c.3913C>T (p.Arg1305Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840834308152222e-07,1.0,1461810.0,8.992999848917603e-07,1.0,nfe,1.3146052510215225,8.992999848917603e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3376712,3376712,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id,-6.1648909284947075,-6.0460954138826875,0.11879536268124002,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4440354225547252,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+11:2777974:A:G,KCNQ1,VCV001415094,1415094,NM_000218.3(KCNQ1):c.1733-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842163601605445e-07,1.0,1461526.0,8.992951324751659e-07,1.0,nfe,1.3143427583657852,8.992951324751659e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,1415094,1415094,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164806545698307,-6.046097757242491,0.11870863665098107,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440377659145291,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+4:113330289:C:T,ANK2,VCV000809661,809661,NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840693919991244e-07,1.0,1461840.0,8.992935150146045e-07,1.0,nfe,1.3146227720607964,8.992935150146045e-07,popmax,0.0,False,False,False,False,False,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.61; detectability=0.81,809661,809661,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-6.164899841213027,-6.046098538359616,0.11880115091307626,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.444038547031654,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+17:70176216:G:T,KCNJ2,VCV000638351,638351,NM_000891.3(KCNJ2):c.1177G>T (p.Gly393Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840750074564176e-07,1.0,1461828.0,8.992886626678298e-07,1.0,nfe,1.314604887272155,8.992886626678298e-07,popmax,0.0,False,False,False,False,True,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,638351,638351,Andersen Tawil syndrome,Andersen Tawil syndrome,Andersen Tawil syndrome,variation_id,-6.1648962761476485,-6.046100881702562,0.11879524251256973,anchored_exact,1.0,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-1.444040890374599,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+15:73329725:C:T,HCN4,VCV000970883,970883,NM_005477.3(HCN4):c.1438G>A (p.Gly480Ser),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840675202005138e-07,1.0,1461844.0,8.992870452305412e-07,1.0,nfe,1.314616911427151,8.992870452305412e-07,popmax,0.0,False,False,False,False,False,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.50; detectability=0.81,970883,970883,Brugada syndrome 8|Left ventricular noncompaction cardiomyopathy|Cardiovascular phenotype|HCN4-related disorder,Brugada syndrome 8|Left ventricular noncompaction cardiomyopathy|Cardiovascular phenotype|HCN4-related disorder,Brugada syndrome 8|Left ventricular noncompaction cardiomyopathy|Cardiovascular phenotype|HCN4-related disorder,variation_id,-6.16490102956165,-6.046101662814067,0.1187992148089861,anchored_exact,1.0,Brugada|cardiomyopathy_overlap,assertion_condition_label,2,1.0,Brugada,structural_electrical,0.7,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,-1.4440416714861042,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+11:2572904:T:C,KCNQ1,VCV002735505,2735505,NM_000218.3(KCNQ1):c.839T>C (p.Val280Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842322776997754e-07,1.0,1461492.0,8.992854277990709e-07,1.0,nfe,1.3142979991009085,8.992854277990709e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,2735505,2735505,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164796442433541,-6.046102443924167,0.11869384672451685,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440424525962046,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+15:73329721:T:C,HCN4,VCV001504964,1504964,NM_005477.3(HCN4):c.1442A>G (p.Tyr481Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840656484121468e-07,1.0,1461848.0,8.992838103734187e-07,1.0,nfe,1.314615779706313,8.992838103734187e-07,popmax,0.0,False,False,False,False,True,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,1504964,1504964,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id,-6.164902217907022,-6.046103225032862,0.11879884093556156,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,-1.4440432337049,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150950951:C:T,KCNH2,VCV001405357,1405357,NM_000238.4(KCNH2):c.2115G>A (p.Trp705Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840506744739651e-07,1.0,1461880.0,8.992741059416839e-07,1.0,nfe,1.3146303700421835,8.992741059416839e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1405357,1405357,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164911724552935,-6.0461079116555325,0.1188036609501185,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440479203275705,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+17:70175958:A:G,KCNJ2,VCV000519476,519476,NM_000891.3(KCNJ2):c.919A>G (p.Met307Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840478669335365e-07,1.0,1461886.0,8.992741059416839e-07,1.0,nfe,1.3146357656770435,8.992741059416839e-07,popmax,0.0,False,False,False,False,False,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.50; detectability=0.81,519476,519476,Cardiovascular phenotype|Andersen Tawil syndrome;Short QT syndrome type 3|Cardiac arrhythmia,Cardiovascular phenotype|Andersen Tawil syndrome;Short QT syndrome type 3|Cardiac arrhythmia,Cardiovascular phenotype|Andersen Tawil syndrome;Short QT syndrome type 3|Cardiac arrhythmia,variation_id,-6.164913507025877,-6.0461079116555325,0.11880544342045442,anchored_exact,1.0,SQTS|arrhythmia,assertion_condition_label,2,1.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-1.4440479203275705,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+7:150951556:T:C,KCNH2,VCV002049671,2049671,NM_000238.4(KCNH2):c.1837A>G (p.Thr613Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840488027777854e-07,1.0,1461884.0,8.992708711776492e-07,1.0,nfe,1.314629238289217,8.992708711776492e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,2049671,2049671,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164912912869042,-6.046109473851851,0.11880328706990778,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440494825238885,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150958158:G:A,KCNH2,VCV001076382,1076382,NM_000238.4(KCNH2):c.817C>T (p.Arg273Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,8.45374281009174e-07,,,8.45374281009174e-07,,,1.1829066007303187e-06,8.45374281009174e-07,global,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,1076382,1076382,Long QT syndrome|Long QT syndrome 2||Cardiac arrhythmia,Long QT syndrome|Long QT syndrome 2||Cardiac arrhythmia,Long QT syndrome|Long QT syndrome 2||Cardiac arrhythmia,variation_id,-6.072950968933901,-6.072950968933901,-5.927049544796213,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4708909776059382,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+11:2571404:G:T,KCNQ1,VCV004614411,4614411,NM_000218.3(KCNQ1):c.683+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1457628.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,4614411,4614411,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+11:2445143:G:A,KCNQ1,VCV004531894,4531894,NM_000218.3(KCNQ1):c.45G>A (p.Trp15Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,978626.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,4531894,4531894,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+11:2571378:C:T,KCNQ1,VCV004081467,4081467,NM_000218.3(KCNQ1):c.658C>T (p.Gln220Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1460484.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,4081467,4081467,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+11:2572057:G:T,KCNQ1,VCV002904944,2904944,NM_000218.3(KCNQ1):c.728G>T (p.Arg243Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1460642.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,2904944,2904944,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+11:2445447:C:A,KCNQ1,VCV001489978,1489978,NM_000218.3(KCNQ1):c.349C>A (p.Pro117Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1445140.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,1489978,1489978,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+11:2775960:C:T,KCNQ1,VCV000965523,965523,NM_000218.3(KCNQ1):c.1591C>T (p.Gln531Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1404394.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,965523,965523,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+11:2445251:C:A,KCNQ1,VCV000933168,933168,NM_000218.3(KCNQ1):c.153C>A (p.Tyr51Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1046344.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.64; detectability=0.81,933168,933168,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,,,0.0,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+11:2570756:T:C,KCNQ1,VCV000869440,869440,NM_000218.3(KCNQ1):c.604+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1458098.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,869440,869440,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+11:2445149:G:A,KCNQ1,VCV000663623,663623,NM_000218.3(KCNQ1):c.51G>A (p.Trp17Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,983778.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,663623,663623,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+11:2776056:T:C,KCNQ1,VCV000637975,637975,NM_000218.3(KCNQ1):c.1685+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1402144.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,637975,637975,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+11:2445100:T:A,KCNQ1,VCV000488859,488859,NM_000218.3(KCNQ1):c.2T>A (p.Met1Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,936200.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,488859,488859,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+11:2445222:G:T,KCNQ1,VCV000488698,488698,NM_000218.3(KCNQ1):c.124G>T (p.Glu42Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,987170.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,488698,488698,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+11:2572089:G:A,KCNQ1,VCV000444879,444879,NM_000218.2(KCNQ1):c.[1249G>A;760G>A],Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,other_or_unresolved,0.0,0.0,1460076.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,444879,444879,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+11:2445103:C:G,KCNQ1,VCV000431053,431053,NM_000218.3(KCNQ1):c.5C>G (p.Ala2Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,940006.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,431053,431053,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+11:2445213:G:T,KCNQ1,VCV000375455,375455,NM_000218.3(KCNQ1):c.115G>T (p.Glu39Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,992758.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,375455,375455,"Jervell and Lange-Nielsen syndrome 1|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1","Jervell and Lange-Nielsen syndrome 1|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1","Jervell and Lange-Nielsen syndrome 1|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1",variation_id,,,0.0,anchored_exact,1.0,LQTS|SQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+7:150958504:T:G,KCNH2,VCV004730168,4730168,NM_000238.4(KCNH2):c.473-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1323936.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,4730168,4730168,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150974834:G:A,KCNH2,VCV004725502,4725502,NM_000238.4(KCNH2):c.184C>T (p.Arg62Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1456028.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,4725502,4725502,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150947786:C:A,KCNH2,VCV003895444,3895444,NM_000238.4(KCNH2):c.2785G>T (p.Glu929Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1381744.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3895444,3895444,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150958442:G:T,KCNH2,VCV003730888,3730888,NM_000238.4(KCNH2):c.533C>A (p.Ser178Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1311954.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3730888,3730888,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150950422:T:C,KCNH2,VCV003720789,3720789,NM_000238.4(KCNH2):c.2146-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1458974.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3720789,3720789,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150948486:G:A,KCNH2,VCV003720786,3720786,NM_000238.4(KCNH2):c.2650C>T (p.Gln884Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1373460.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3720786,3720786,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150948443:C:A,KCNH2,VCV003544414,3544414,NM_000238.4(KCNH2):c.2692+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1400560.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3544414,3544414,Hypertrophic cardiomyopathy 26,Hypertrophic cardiomyopathy 26,Hypertrophic cardiomyopathy 26,variation_id,,,0.0,anchored_exact,1.0,cardiomyopathy_overlap,assertion_condition_label,1,-0.0,cardiomyopathy_overlap,structural_electrical,0.7,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150958110:C:A,KCNH2,VCV003338695,3338695,NM_000238.4(KCNH2):c.865G>T (p.Glu289Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1144896.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3338695,3338695,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150945490:C:A,KCNH2,VCV003254535,3254535,NM_000238.4(KCNH2):c.3355G>T (p.Glu1119Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1407476.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3254535,3254535,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150958287:C:A,KCNH2,VCV002831712,2831712,NM_000238.4(KCNH2):c.688G>T (p.Glu230Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1311050.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,2831712,2831712,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150958446:C:A,KCNH2,VCV002136630,2136630,NM_000238.4(KCNH2):c.529G>T (p.Glu177Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1314472.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,2136630,2136630,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150947458:G:A,KCNH2,VCV001968021,1968021,NM_000238.4(KCNH2):c.3022C>T (p.Gln1008Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1416682.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,1968021,1968021,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150958335:C:A,KCNH2,VCV001810619,1810619,NM_000238.4(KCNH2):c.640G>T (p.Glu214Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1337032.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1810619,1810619,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150974768:G:A,KCNH2,VCV001792370,1792370,NM_000238.4(KCNH2):c.250C>T (p.Gln84Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1453842.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1792370,1792370,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150947344:G:A,KCNH2,VCV001728012,1728012,NM_000238.4(KCNH2):c.3136C>T (p.Gln1046Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1391714.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1728012,1728012,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150958504:T:C,KCNH2,VCV001466419,1466419,NM_000238.4(KCNH2):c.473-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1323936.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1466419,1466419,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150974786:C:T,KCNH2,VCV001197726,1197726,NM_000238.4(KCNH2):c.232G>A (p.Ala78Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1452442.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,1197726,1197726,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150974942:C:A,KCNH2,VCV001171507,1171507,NM_000238.4(KCNH2):c.77-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1440802.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1171507,1171507,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,0.0,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150977837:C:T,KCNH2,VCV001066606,1066606,NM_000238.4(KCNH2):c.76+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1395200.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1066606,1066606,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150950166:A:T,KCNH2,VCV000560686,560686,NM_000238.4(KCNH2):c.2398+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,550050.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,560686,560686,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+7:150947327:C:A,KCNH2,VCV000373026,373026,NM_000238.4(KCNH2):c.3152+1G>T,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1388730.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,373026,373026,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+3:38550937:G:T,SCN5A,VCV004756584,4756584,NM_000335.5(SCN5A):c.5432C>A (p.Ser1811Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461814.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4756584,4756584,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,0.0,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+3:38613754:G:C,SCN5A,VCV003950971,3950971,NM_000335.5(SCN5A):c.692C>G (p.Ser231Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1450430.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3950971,3950971,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+3:38597755:C:A,SCN5A,VCV003717482,3717482,NM_000335.5(SCN5A):c.2236G>T (p.Glu746Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1456158.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3717482,3717482,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+3:38581200:G:A,SCN5A,VCV003662749,3662749,NM_000335.5(SCN5A):c.2959C>T (p.Gln987Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1458838.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3662749,3662749,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+3:38560152:G:A,SCN5A,VCV003662441,3662441,NM_000335.5(SCN5A):c.4237C>T (p.Gln1413Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1459868.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3662441,3662441,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+3:38606687:C:T,SCN5A,VCV002910169,2910169,NM_000335.5(SCN5A):c.1122G>A (p.Trp374Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461218.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2910169,2910169,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+3:38579496:C:T,SCN5A,VCV001965471,1965471,NM_001099404.2(SCN5A):c.3229-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1455140.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,1965471,1965471,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+3:38613808:C:T,SCN5A,VCV001684121,1684121,NM_000335.5(SCN5A):c.638G>A (p.Gly213Asp),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1457634.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,1684121,1684121,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+3:38556559:C:T,SCN5A,VCV001375303,1375303,NM_000335.5(SCN5A):c.4316G>A (p.Trp1439Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461152.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,1375303,1375303,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+3:38566558:C:A,SCN5A,VCV000979202,979202,NM_000335.5(SCN5A):c.3688G>T (p.Glu1230Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461610.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,979202,979202,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,0.0,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+3:38613824:C:A,SCN5A,VCV000858096,858096,NM_000335.5(SCN5A):c.622G>T (p.Glu208Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1455108.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,858096,858096,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+21:34449585:C:T,KCNE1,VCV000547163,547163,NM_000219.6(KCNE1):c.50G>A (p.Trp17Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,LOF,0.0,0.0,908958.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.4166666666666667,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.42; detectability=0.81,547163,547163,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic
+1:237828429:T:C,RYR2,VCV004746934,4746934,NM_001035.3(RYR2):c.14639T>C (p.Val4880Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1413372.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,4746934,4746934,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:237795313:C:A,RYR2,VCV002828493,2828493,NM_001035.3(RYR2):c.13938C>A (p.Asp4646Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1276004.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,2828493,2828493,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:237491911:G:T,RYR2,VCV002737123,2737123,NM_001035.3(RYR2):c.1814G>T (p.Gly605Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1129636.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,2737123,2737123,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:237772037:G:T,RYR2,VCV002203008,2203008,NM_001035.3(RYR2):c.11583G>T (p.Gln3861His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1394334.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,2203008,2203008,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:237778753:C:A,RYR2,VCV001804987,1804987,NM_001035.3(RYR2):c.11863C>A (p.Gln3955Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1448574.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,1804987,1804987,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:237042549:G:T,RYR2,VCV001678118,1678118,NM_001035.3(RYR2):c.28G>T (p.Glu10Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1108862.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,1678118,1678118,,,,unmatched,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+1:237772077:G:T,RYR2,VCV001480581,1480581,NM_001035.3(RYR2):c.11623G>T (p.Val3875Leu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1386722.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,1480581,1480581,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1|Arrhythmogenic right ventricular dysplasia 2,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1|Arrhythmogenic right ventricular dysplasia 2,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1|Arrhythmogenic right ventricular dysplasia 2,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia|cardiomyopathy_overlap,assertion_condition_label,3,1.584962500721156,CPVT,structural_electrical,0.7,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:237828428:G:A,RYR2,VCV001439521,1439521,NM_001035.3(RYR2):c.14638G>A (p.Val4880Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1413512.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,1439521,1439521,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:237772075:C:T,RYR2,VCV001328938,1328938,NM_001035.3(RYR2):c.11621C>T (p.Thr3874Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,,,0.0,,,1.0,0.0,global,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,1328938,1328938,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:237772033:C:T,RYR2,VCV001035886,1035886,NM_001035.3(RYR2):c.11579C>T (p.Thr3860Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,,,0.0,,,1.0,0.0,global,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,1035886,1035886,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:237784046:G:A,RYR2,VCV001021015,1021015,NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1461680.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,1021015,1021015,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:237783718:G:A,RYR2,VCV000869430,869430,NM_001035.3(RYR2):c.12006G>A (p.Met4002Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1459208.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,869430,869430,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:237772044:A:G,RYR2,VCV000656670,656670,NM_001035.3(RYR2):c.11590A>G (p.Asn3864Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1400372.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,656670,656670,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:237772078:T:C,RYR2,VCV000581079,581079,NM_001035.3(RYR2):c.11624T>C (p.Val3875Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1384914.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,581079,581079,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:237369568:A:G,RYR2,VCV000572162,572162,NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1412948.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,572162,572162,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:237042565:G:C,RYR2,VCV000463600,463600,NM_001035.3(RYR2):c.44G>C (p.Arg15Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1109590.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,463600,463600,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:237772077:G:A,RYR2,VCV000404183,404183,NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1386722.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,404183,404183,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:115705191:C:T,CASQ2,VCV002754358,2754358,NM_001232.4(CASQ2):c.939+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1449556.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2754358,2754358,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:115726993:T:A,CASQ2,VCV002505552,2505552,NM_001232.4(CASQ2):c.736A>T (p.Arg246Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1209268.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2505552,2505552,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+1:115702920:C:T,CASQ2,VCV001457736,1457736,NM_001232.4(CASQ2):c.1014+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1459946.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,1457736,1457736,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+6:123512333:C:A,TRDN,VCV003894738,3894738,NM_006073.4(TRDN):c.580G>T (p.Glu194Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1350466.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,3894738,3894738,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+6:123438943:C:T,TRDN,VCV003717909,3717909,NM_006073.4(TRDN):c.991+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1406010.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,3717909,3717909,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+6:123547340:C:A,TRDN,VCV002762883,2762883,NM_006073.4(TRDN):c.424G>T (p.Glu142Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1302576.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,2762883,2762883,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+6:123278327:C:A,TRDN,VCV002434224,2434224,NM_006073.4(TRDN):c.1558G>T (p.Glu520Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1144364.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,2434224,2434224,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+6:123548540:C:T,TRDN,VCV001799347,1799347,NM_006073.4(TRDN):c.305G>A (p.Trp102Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1423754.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,1799347,1799347,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive
+6:123548453:C:T,TRDN,VCV001517713,1517713,NM_006073.4(TRDN):c.391+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1401032.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.39; detectability=0.81,1517713,1517713,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+2:47160803:C:G,CALM2,VCV001467722,1467722,NM_001743.6(CALM2):c.423G>C (p.Glu141Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1220958.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.75,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.75; detectability=0.81,1467722,1467722,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+4:113264996:G:A,ANK2,VCV003721367,3721367,NM_001148.6(ANK2):c.1485+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1405178.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3721367,3721367,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+4:113264927:C:T,ANK2,VCV002446019,2446019,NM_001148.6(ANK2):c.1417C>T (p.Arg473Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1415518.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2446019,2446019,See cases,See cases,See cases,variation_id,,,0.0,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+12:2595878:C:T,CACNA1C,VCV003899523,3899523,NM_000719.7(CACNA1C):c.2668C>T (p.Arg890Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1461100.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,3899523,3899523,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+12:2566430:G:A,CACNA1C,VCV003601972,3601972,NM_000719.7(CACNA1C):c.1517G>A (p.Trp506Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1440630.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,3601972,3601972,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+12:2566465:C:A,CACNA1C,VCV003233417,3233417,NM_000719.7(CACNA1C):c.1552C>A (p.Arg518Ser),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,0.0,0.0,1443586.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,3233417,3233417,Timothy syndrome;Long QT syndrome,Timothy syndrome;Long QT syndrome,Timothy syndrome;Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+12:2581622:C:T,CACNA1C,VCV001707563,1707563,NM_000719.7(CACNA1C):c.1928C>T (p.Ser643Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1426284.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,1707563,1707563,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+12:2666684:A:G,CACNA1C,VCV001218634,1218634,NM_000719.7(CACNA1C):c.4527-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1427552.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,1218634,1218634,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision
+11:2571331:T:TC,KCNQ1,VCV004811016,4811016,NM_000218.3(KCNQ1):c.612dup (p.Val205fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4811016,4811016,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2585246:A:AGCAGAAGCAGAG,KCNQ1,VCV004750132,4750132,NM_000218.3(KCNQ1):c.1077_1088dup (p.Lys362_His363insGlnArgGlnLys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4750132,4750132,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2445473:C:G,KCNQ1,VCV004732891,4732891,NM_000218.3(KCNQ1):c.375C>G (p.Tyr125Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4732891,4732891,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2778034:C:CA,KCNQ1,VCV004719475,4719475,NM_000218.3(KCNQ1):c.1793dup (p.Val599fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4719475,4719475,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2527967:GT:G,KCNQ1,VCV004714005,4714005,NM_000218.3(KCNQ1):c.427del (p.Ser143fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4714005,4714005,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2583471:C:A,KCNQ1,VCV004709530,4709530,NM_000218.3(KCNQ1):c.958C>A (p.Pro320Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4709530,4709530,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2777975:G:A,KCNQ1,VCV004688928,4688928,NM_000218.3(KCNQ1):c.1733-1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4688928,4688928,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572936:TC:T,KCNQ1,VCV004278376,4278376,NM_000218.3(KCNQ1):c.872del (p.Glu290_Ser291insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4278376,4278376,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2768837:ACTGCAGG:A,KCNQ1,VCV004090692,4090692,NM_000218.3(KCNQ1):c.1515-2_1519del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4090692,4090692,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2778007:C:CA,KCNQ1,VCV004084700,4084700,NM_000218.3(KCNQ1):c.1764_1765insA (p.Gly589fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4084700,4084700,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2777984:AAGGATCGCGGC:A,KCNQ1,VCV004084699,4084699,NM_000218.3(KCNQ1):c.1744_1754del (p.Asp582fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4084699,4084699,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2775999:CAGTAC:GTGAG,KCNQ1,VCV004076475,4076475,NM_000218.3(KCNQ1):c.1630_1635delinsGTGAG (p.Gln544fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4076475,4076475,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572977:G:A,KCNQ1,VCV004070996,4070996,NM_000218.3(KCNQ1):c.912G>A (p.Trp304Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4070996,4070996,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2778014:C:G,KCNQ1,VCV003901502,3901502,NM_000218.3(KCNQ1):c.1771C>G (p.Arg591Gly),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3901502,3901502,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2585274:C:G,KCNQ1,VCV003898708,3898708,NM_000218.3(KCNQ1):c.1095C>G (p.Asn365Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3898708,3898708,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2585218:C:T,KCNQ1,VCV003895224,3895224,NM_000218.3(KCNQ1):c.1039C>T (p.Leu347Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3895224,3895224,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2768895:C:G,KCNQ1,VCV003895223,3895223,NM_000218.3(KCNQ1):c.1566C>G (p.Tyr522Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3895223,3895223,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2775970:AG:A,KCNQ1,VCV003894930,3894930,NM_000218.3(KCNQ1):c.1602del (p.Lys534fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894930,3894930,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2775959:G:C,KCNQ1,VCV003894017,3894017,NM_000218.3(KCNQ1):c.1591-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894017,3894017,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2662020:TTCGCC:T,KCNQ1,VCV003893245,3893245,NM_000218.3(KCNQ1):c.1454_1458del (p.Ser484_Phe485insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3893245,3893245,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2662017:AGC:A,KCNQ1,VCV003893242,3893242,NM_000218.3(KCNQ1):c.1451_1452del (p.Ser484fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3893242,3893242,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2571344:C:TT,KCNQ1,VCV003862988,3862988,NM_000218.3(KCNQ1):c.624delinsTT (p.Ser209fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3862988,3862988,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2571394:C:A,KCNQ1,VCV003774956,3774956,NM_000218.3(KCNQ1):c.674C>A (p.Ser225Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3774956,3774956,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2583446:CACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGGTCGGGAAG:C,KCNQ1,VCV003769591,3769591,NM_000218.3(KCNQ1):c.941_985del (p.Gly314_Ile328del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3769591,3769591,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2768920:G:C,KCNQ1,VCV003726879,3726879,NM_000218.3(KCNQ1):c.1590+1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3726879,3726879,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2527959:A:C,KCNQ1,VCV003719869,3719869,NM_000218.3(KCNQ1):c.418A>C (p.Ser140Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3719869,3719869,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2570713:G:A,KCNQ1,VCV003693769,3693769,NM_000218.3(KCNQ1):c.563G>A (p.Trp188Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3693769,3693769,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2587651:ACT:A,KCNQ1,VCV003669101,3669101,NM_000218.3(KCNQ1):c.1213_1214del (p.Leu405fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3669101,3669101,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572945:GTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTG:CAC,KCNQ1,VCV003660922,3660922,NM_000218.3(KCNQ1):c.880_921+630delinsCAC,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3660922,3660922,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2768890:C:T,KCNQ1,VCV003659274,3659274,NM_000218.3(KCNQ1):c.1561C>T (p.Gln521Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3659274,3659274,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2528014:G:A,KCNQ1,VCV003659247,3659247,NM_000218.3(KCNQ1):c.473G>A (p.Trp158Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3659247,3659247,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2445162:G:GGC,KCNQ1,VCV003648787,3648787,NM_000218.3(KCNQ1):c.67_68dup (p.Arg24fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3648787,3648787,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572032:A:C,KCNQ1,VCV003641656,3641656,NM_000218.3(KCNQ1):c.703A>C (p.Ile235Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3641656,3641656,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572026:C:A,KCNQ1,VCV003603667,3603667,NM_000218.3(KCNQ1):c.697C>A (p.Leu233Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3603667,3603667,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2570626:A:G,KCNQ1,VCV003601179,3601179,NM_000218.3(KCNQ1):c.478-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3601179,3601179,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2776985:G:T,KCNQ1,VCV003392793,3392793,NM_000218.3(KCNQ1):c.1686-1G>T,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3392793,3392793,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2661995:GC:G,KCNQ1,VCV003383201,3383201,NM_000218.3(KCNQ1):c.1432del (p.His478fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3383201,3383201,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2588714:TAAAG:T,KCNQ1,VCV003383071,3383071,NM_000218.3(KCNQ1):c.1257_1260del (p.Lys421fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3383071,3383071,"Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3","Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3","Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3",variation_id,,,,representation_repairable,0.45,LQTS|SQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+11:2572073:G:A,KCNQ1,VCV003382790,3382790,NM_000218.3(KCNQ1):c.744G>A (p.Trp248Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3382790,3382790,"Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3","Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3","Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3",variation_id,,,,locus_or_regional_context,0.25,LQTS|SQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+11:2583540:C:G,KCNQ1,VCV003376696,3376696,NM_000218.3(KCNQ1):c.1027C>G (p.Pro343Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3376696,3376696,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2585209:CA:C,KCNQ1,VCV003376665,3376665,NM_000218.3(KCNQ1):c.1033-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3376665,3376665,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2445419:G:C,KCNQ1,VCV003376650,3376650,NM_000218.3(KCNQ1):c.321G>C (p.Gln107His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3376650,3376650,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2585213:G:T,KCNQ1,VCV003338779,3338779,NM_000218.3(KCNQ1):c.1034G>T (p.Gly345Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3338779,3338779,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2570658:G:A,KCNQ1,VCV003338330,3338330,NM_000218.3(KCNQ1):c.508G>A (p.Glu170Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3338330,3338330,Atrial fibrillation,Atrial fibrillation,Atrial fibrillation,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2445320:AG:A,KCNQ1,VCV003337204,3337204,NM_000218.3(KCNQ1):c.223del (p.Val75fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3337204,3337204,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2445305:GC:G,KCNQ1,VCV003335922,3335922,NM_000218.3(KCNQ1):c.210del (p.Ala71fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3335922,3335922,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2778014:C:A,KCNQ1,VCV003235934,3235934,NM_000218.3(KCNQ1):c.1771C>A (p.Arg591Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3235934,3235934,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2847776:CTGGACCAGAGGCTGGCACTCATCACCGACATGCTTCACCAGCTGCTCTCCTTGCACGGTGGCAGCACCCCCGGCAGCGGCGGCCCCCCCAGAGAGGGCGGGGCCCACATCACCCAGCCCTGCGGCAGTGGCGGCTCCGTCGACCCTGAGCTCTTCCTGCCCAGCAACACCCTGCCCACCTACGAGCAGCTGACCGTGCCCAGGAGGGGCCCCGATGAGGGGTCCTGAGGAGGGGATGGGGCTGGGGGATGGGCCTGAGTGAGAGGGGAGGCCAAGAGTGGCCCCACCTGGCCCTCTCTGAAGGAGGCCACCTCCTAAAAGGCCCAGAGAGAAGAGCCCCACTCTCAGAGGCCCCAATACCCCA:C,KCNQ1,VCV003235891,3235891,NM_000218.3(KCNQ1):c.1812_*143del (p.Gln604_Ter677delinsXaa),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3235891,3235891,"Atrial fibrillation, familial, 3;Short QT syndrome type 2;Long QT syndrome 1","Atrial fibrillation, familial, 3;Short QT syndrome type 2;Long QT syndrome 1","Atrial fibrillation, familial, 3;Short QT syndrome type 2;Long QT syndrome 1",variation_id,,,,representation_repairable,0.45,LQTS|SQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+11:2777033:G:T,KCNQ1,VCV003075923,3075923,NM_000218.3(KCNQ1):c.1732+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3075923,3075923,Jervell and Lange-Nielsen syndrome,Jervell and Lange-Nielsen syndrome,Jervell and Lange-Nielsen syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572976:G:T,KCNQ1,VCV002982293,2982293,NM_000218.3(KCNQ1):c.911G>T (p.Trp304Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2982293,2982293,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2587564:CCTCAGACCGCATGGAGGTGCTATGCTG:C,KCNQ1,VCV002971269,2971269,NM_000218.3(KCNQ1):c.1129-4_1151del,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2971269,2971269,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572980:G:C,KCNQ1,VCV002837284,2837284,NM_000218.3(KCNQ1):c.915G>C (p.Trp305Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2837284,2837284,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572047:CACGTCG:C,KCNQ1,VCV002836375,2836375,NM_000218.3(KCNQ1):c.721_726del (p.Val241_Asp242del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2836375,2836375,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2570735:G:GA,KCNQ1,VCV002828480,2828480,NM_000218.3(KCNQ1):c.587dup (p.Pro197fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2828480,2828480,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2571383:GT:G,KCNQ1,VCV002814371,2814371,NM_000218.3(KCNQ1):c.666del (p.Phe222fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2814371,2814371,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2585274:CC:AT,KCNQ1,VCV002811762,2811762,NM_000218.3(KCNQ1):c.1095_1096delinsAT (p.Asn365_Arg366delinsLysTrp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2811762,2811762,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2585215:AT:A,KCNQ1,VCV002807267,2807267,NM_000218.3(KCNQ1):c.1038del (p.Gly348fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2807267,2807267,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2777020:AT:A,KCNQ1,VCV002773484,2773484,NM_000218.3(KCNQ1):c.1721del (p.Ile574fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2773484,2773484,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+11:2588712:G:A,KCNQ1,VCV002773474,2773474,NM_000218.3(KCNQ1):c.1252-1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2773474,2773474,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+11:2776003:A:T,KCNQ1,VCV002770494,2770494,NM_000218.3(KCNQ1):c.1634A>T (p.Tyr545Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2770494,2770494,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2445486:T:G,KCNQ1,VCV002748943,2748943,NM_000218.3(KCNQ1):c.386+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2748943,2748943,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2570677:G:C,KCNQ1,VCV002747611,2747611,NM_000218.3(KCNQ1):c.527G>C (p.Trp176Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2747611,2747611,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2662041:GA:G,KCNQ1,VCV002725492,2725492,NM_000218.3(KCNQ1):c.1476del (p.Glu494fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2725492,2725492,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2528019:G:C,KCNQ1,VCV002724418,2724418,NM_000218.3(KCNQ1):c.477+1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2724418,2724418,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572854:AAC:A,KCNQ1,VCV002723186,2723186,NM_000218.3(KCNQ1):c.790_791del (p.Thr264fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2723186,2723186,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572978:T:A,KCNQ1,VCV002719407,2719407,NM_000218.3(KCNQ1):c.913T>A (p.Trp305Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2719407,2719407,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2768884:CGCAT:C,KCNQ1,VCV002708573,2708573,NM_000218.3(KCNQ1):c.1559_1562del (p.Met520fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2708573,2708573,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2585300:TC:T,KCNQ1,VCV002692770,2692770,NM_000218.3(KCNQ1):c.1122del (p.Ile375fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2692770,2692770,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2778039:T:C,KCNQ1,VCV002587406,2587406,NM_000218.3(KCNQ1):c.1794+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2587406,2587406,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572976:G:A,KCNQ1,VCV002587403,2587403,NM_000218.3(KCNQ1):c.911G>A (p.Trp304Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2587403,2587403,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2445453:G:GC,KCNQ1,VCV002577445,2577445,NM_000218.3(KCNQ1):c.355_356insC (p.Gly119fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2577445,2577445,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2587660:T:TG,KCNQ1,VCV002575074,2575074,NM_000218.3(KCNQ1):c.1219_1220insG (p.Ser407fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575074,2575074,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2585246:AGCAGAAGCAGAG:A,KCNQ1,VCV002575071,2575071,NM_000218.3(KCNQ1):c.1077_1088del (p.Gln359_Lys362del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575071,2575071,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2527927:G:C,KCNQ1,VCV002575070,2575070,NM_000218.3(KCNQ1):c.387-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575070,2575070,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2662053:CT:C,KCNQ1,VCV002575068,2575068,NM_000218.3(KCNQ1):c.1487del (p.Leu496fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575068,2575068,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2527938:GT:G,KCNQ1,VCV002575067,2575067,NM_000218.3(KCNQ1):c.398del (p.Val133fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2575067,2575067,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2778038:G:A,KCNQ1,VCV002575066,2575066,NM_000218.3(KCNQ1):c.1794+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2575066,2575066,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572850:T:A,KCNQ1,VCV002575065,2575065,NM_000218.3(KCNQ1):c.785T>A (p.Leu262Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575065,2575065,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2583533:T:G,KCNQ1,VCV002575064,2575064,NM_000218.3(KCNQ1):c.1020T>G (p.Phe340Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575064,2575064,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572975:T:G,KCNQ1,VCV002575063,2575063,NM_000218.3(KCNQ1):c.910T>G (p.Trp304Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575063,2575063,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572852:AT:A,KCNQ1,VCV002574107,2574107,NM_000218.3(KCNQ1):c.788del (p.Ile263fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2574107,2574107,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2585297:C:A,KCNQ1,VCV002574106,2574106,NM_000218.3(KCNQ1):c.1118C>A (p.Ser373Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2574106,2574106,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572882:C:A,KCNQ1,VCV002574013,2574013,NM_000218.3(KCNQ1):c.817C>A (p.Leu273Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2574013,2574013,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2768908:A:G,KCNQ1,VCV002574002,2574002,NM_000218.3(KCNQ1):c.1579A>G (p.Lys527Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2574002,2574002,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572040:GATGCTAC:G,KCNQ1,VCV002567545,2567545,NM_000218.3(KCNQ1):c.713_719del (p.Met238fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2567545,2567545,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2778024:G:T,KCNQ1,VCV002502702,2502702,NM_000218.3(KCNQ1):c.1781G>T (p.Arg594Leu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2502702,2502702,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2445344:GC:G,KCNQ1,VCV002502315,2502315,NM_000218.3(KCNQ1):c.248del (p.Pro83fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2502315,2502315,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572862:T:A,KCNQ1,VCV002498480,2498480,NM_000218.3(KCNQ1):c.797T>A (p.Leu266Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2498480,2498480,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2583443:CA:C,KCNQ1,VCV002453279,2453279,NM_000218.3(KCNQ1):c.931del (p.Thr311fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2453279,2453279,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2570685:G:C,KCNQ1,VCV002446426,2446426,NM_000218.3(KCNQ1):c.535G>C (p.Gly179Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2446426,2446426,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2583546:G:T,KCNQ1,VCV002136962,2136962,NM_000218.3(KCNQ1):c.1032+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2136962,2136962,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572104:C:G,KCNQ1,VCV002136957,2136957,NM_000218.3(KCNQ1):c.775C>G (p.Arg259Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2136957,2136957,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2583460:G:C,KCNQ1,VCV002130527,2130527,NM_000218.3(KCNQ1):c.947G>C (p.Gly316Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2130527,2130527,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2768911:A:AAT,KCNQ1,VCV002129901,2129901,NM_000218.3(KCNQ1):c.1583_1584insTA (p.Lys528fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2129901,2129901,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2583470:GC:TT,KCNQ1,VCV002129108,2129108,NM_000218.3(KCNQ1):c.957_958delinsTT (p.Pro320Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2129108,2129108,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2570701:ACGTGGGCCTCTGGGGGCGGCTG:A,KCNQ1,VCV002102490,2102490,NM_000218.3(KCNQ1):c.554_575del (p.Val185fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2102490,2102490,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2445430:A:C,KCNQ1,VCV002035007,2035007,NM_000218.3(KCNQ1):c.332A>C (p.Tyr111Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2035007,2035007,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2588739:C:CA,KCNQ1,VCV002028871,2028871,NM_000218.3(KCNQ1):c.1281dup (p.Asp428fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2028871,2028871,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2776027:TG:T,KCNQ1,VCV002023188,2023188,NM_000218.3(KCNQ1):c.1660del (p.Val554fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2023188,2023188,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2587681:A:T,KCNQ1,VCV002017757,2017757,NM_000218.3(KCNQ1):c.1240A>T (p.Lys414Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2017757,2017757,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2583546:G:C,KCNQ1,VCV002017498,2017498,NM_000218.3(KCNQ1):c.1032+1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2017498,2017498,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2571346:C:CA,KCNQ1,VCV002004187,2004187,NM_000218.3(KCNQ1):c.626_627insA (p.Met210fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2004187,2004187,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2768888:T:A,KCNQ1,VCV002000331,2000331,NM_000218.3(KCNQ1):c.1559T>A (p.Met520Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2000331,2000331,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2587665:CA:C,KCNQ1,VCV001879152,1879152,NM_000218.3(KCNQ1):c.1225del (p.Ser409fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1879152,1879152,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2571364:TG:T,KCNQ1,VCV001802109,1802109,NM_000218.3(KCNQ1):c.647del (p.Gly216fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1802109,1802109,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2445203:C:CT,KCNQ1,VCV001786030,1786030,NM_000218.3(KCNQ1):c.107dup (p.Ser37fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1786030,1786030,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2776986:G:C,KCNQ1,VCV001778018,1778018,NM_000218.3(KCNQ1):c.1686G>C (p.Arg562Ser),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1778018,1778018,"Cardiovascular phenotype|Long QT syndrome|Atrial fibrillation, familial, 3","Cardiovascular phenotype|Long QT syndrome|Atrial fibrillation, familial, 3","Cardiovascular phenotype|Long QT syndrome|Atrial fibrillation, familial, 3",variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+11:2585210:A:AGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCT,KCNQ1,VCV001771701,1771701,NM_000218.3(KCNQ1):c.1033-1_1117dup,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1771701,1771701,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+11:2588779:G:GTCCCCCATATCACGTGCGA,KCNQ1,VCV001769838,1769838,NM_000218.3(KCNQ1):c.1319_1337dup (p.Glu449fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1769838,1769838,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2583481:G:A,KCNQ1,VCV001723453,1723453,NM_000218.3(KCNQ1):c.968G>A (p.Trp323Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1723453,1723453,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572886:T:A,KCNQ1,VCV001711271,1711271,NM_000218.3(KCNQ1):c.821T>A (p.Ile274Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1711271,1711271,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2570663:C:CGTGGTCCGCCT,KCNQ1,VCV001709048,1709048,NM_000218.3(KCNQ1):c.514_524dup (p.Gly179fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1709048,1709048,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2662026:G:T,KCNQ1,VCV001708065,1708065,NM_000218.3(KCNQ1):c.1459G>T (p.Glu487Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1708065,1708065,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2445485:G:T,KCNQ1,VCV001522663,1522663,NM_000218.3(KCNQ1):c.386+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1522663,1522663,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2661959:A:G,KCNQ1,VCV001500718,1500718,NM_000218.3(KCNQ1):c.1394-2A>G,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1500718,1500718,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2585309:T:A,KCNQ1,VCV001500707,1500707,NM_000218.3(KCNQ1):c.1128+2T>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1500707,1500707,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2571324:G:A,KCNQ1,VCV001493047,1493047,NM_000218.3(KCNQ1):c.605-1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1493047,1493047,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2583531:T:C,KCNQ1,VCV001488375,1488375,NM_000218.3(KCNQ1):c.1018T>C (p.Phe340Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1488375,1488375,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2445400:T:A,KCNQ1,VCV001457098,1457098,NM_000218.3(KCNQ1):c.302T>A (p.Leu101Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1457098,1457098,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2587588:G:GC,KCNQ1,VCV001454915,1454915,NM_000218.3(KCNQ1):c.1148dup (p.Ala384fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1454915,1454915,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572899:C:CT,KCNQ1,VCV001454509,1454509,NM_000218.3(KCNQ1):c.837dup (p.Val280fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1454509,1454509,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2445457:GGAAATGCTTC:G,KCNQ1,VCV001454382,1454382,NM_000218.3(KCNQ1):c.361_370del (p.Lys121fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1454382,1454382,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572099:T:TCCACC,KCNQ1,VCV001452627,1452627,NM_000218.3(KCNQ1):c.771_775dup (p.Arg259fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1452627,1452627,"Long QT syndrome|Short QT syndrome type 2;Long QT syndrome 1;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1","Long QT syndrome|Short QT syndrome type 2;Long QT syndrome 1;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1","Long QT syndrome|Short QT syndrome type 2;Long QT syndrome 1;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1",variation_id,,,,locus_or_regional_context,0.25,LQTS|SQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+11:2572975:T:TGGTG,KCNQ1,VCV001451451,1451451,NM_000218.3(KCNQ1):c.913_916dup (p.Gly306fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1451451,1451451,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2583486:G:T,KCNQ1,VCV001449449,1449449,NM_000218.3(KCNQ1):c.973G>T (p.Gly325Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1449449,1449449,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2587647:CCACACTCTGCTGT:C,KCNQ1,VCV001445000,1445000,NM_000218.3(KCNQ1):c.1210_1222del (p.Thr404fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1445000,1445000,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2583456:T:A,KCNQ1,VCV001439097,1439097,NM_000218.3(KCNQ1):c.943T>A (p.Tyr315Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1439097,1439097,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2571394:C:G,KCNQ1,VCV001438413,1438413,NM_000218.3(KCNQ1):c.674C>G (p.Ser225Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1438413,1438413,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572096:TCATC:T,KCNQ1,VCV001437397,1437397,NM_000218.3(KCNQ1):c.770_773del (p.Ile257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1437397,1437397,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2588814:GC:G,KCNQ1,VCV001426804,1426804,NM_000218.3(KCNQ1):c.1354del (p.Arg452fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1426804,1426804,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+11:2583446:C:CACCATCGG,KCNQ1,VCV001416082,1416082,NM_000218.3(KCNQ1):c.934_941dup (p.Tyr315fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1416082,1416082,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572029:C:T,KCNQ1,VCV001414164,1414164,NM_000218.3(KCNQ1):c.700C>T (p.Gln234Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1414164,1414164,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+11:2583472:C:T,KCNQ1,VCV001411474,1411474,NM_000218.3(KCNQ1):c.959C>T (p.Pro320Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1411474,1411474,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572987:G:A,KCNQ1,VCV001384067,1384067,NM_000218.3(KCNQ1):c.921+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1384067,1384067,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2528020:T:C,KCNQ1,VCV001350731,1350731,NM_000218.3(KCNQ1):c.477+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1350731,1350731,Long QT syndrome|Familial prostate cancer,Long QT syndrome|Familial prostate cancer,Long QT syndrome|Familial prostate cancer,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2570625:CAGG:C,KCNQ1,VCV001343361,1343361,NM_000218.2(KCNQ1):c.478_480del,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1343361,1343361,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2588712:G:C,KCNQ1,VCV001342782,1342782,NM_000218.3(KCNQ1):c.1252-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,1342782,1342782,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,unanchored,0.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2571323:A:G,KCNQ1,VCV001342708,1342708,NM_000218.3(KCNQ1):c.605-2A>G,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1342708,1342708,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2768921:T:A,KCNQ1,VCV001331817,1331817,NM_000218.3(KCNQ1):c.1590+2T>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1331817,1331817,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572976:G:C,KCNQ1,VCV001212402,1212402,NM_000218.3(KCNQ1):c.911G>C (p.Trp304Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1212402,1212402,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2585276:G:T,KCNQ1,VCV001185948,1185948,NM_000218.3(KCNQ1):c.1097G>T (p.Arg366Leu),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1185948,1185948,Long QT syndrome|Cardiovascular phenotype|Cardiac arrhythmia,Long QT syndrome|Cardiovascular phenotype|Cardiac arrhythmia,Long QT syndrome|Cardiovascular phenotype|Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+11:2587690:G:GT,KCNQ1,VCV001179766,1179766,NM_000218.3(KCNQ1):c.1250dup (p.Val418fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1179766,1179766,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2778034:CAA:C,KCNQ1,VCV001171410,1171410,NM_000218.3(KCNQ1):c.1792_1793del (p.Lys598fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1171410,1171410,Cardiac arrhythmia|Cardiovascular phenotype|Long QT syndrome,Cardiac arrhythmia|Cardiovascular phenotype|Long QT syndrome,Cardiac arrhythmia|Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+11:2587622:TC:T,KCNQ1,VCV001076090,1076090,NM_000218.3(KCNQ1):c.1182del (p.Tyr395fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1076090,1076090,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2445482:CG:C,KCNQ1,VCV001075209,1075209,NM_000218.3(KCNQ1):c.385del (p.Val129fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1075209,1075209,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2445457:G:A,KCNQ1,VCV001074347,1074347,NM_000218.3(KCNQ1):c.359G>A (p.Trp120Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1074347,1074347,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2445251:CGCGCCCATCGCGCCCG:C,KCNQ1,VCV001072801,1072801,NM_000218.3(KCNQ1):c.160_175del (p.Ile54fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1072801,1072801,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2777030:C:G,KCNQ1,VCV001069232,1069232,NM_000218.3(KCNQ1):c.1730C>G (p.Ser577Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1069232,1069232,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2588711:A:C,KCNQ1,VCV001067022,1067022,NM_000218.3(KCNQ1):c.1252-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1067022,1067022,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2661960:G:C,KCNQ1,VCV001066272,1066272,NM_000218.3(KCNQ1):c.1394-1G>C,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1066272,1066272,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2583463:A:C,KCNQ1,VCV001056776,1056776,NM_000218.3(KCNQ1):c.950A>C (p.Asp317Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1056776,1056776,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2585291:C:A,KCNQ1,VCV001038475,1038475,NM_000218.3(KCNQ1):c.1112C>A (p.Ala371Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1038475,1038475,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2778003:C:G,KCNQ1,VCV001037124,1037124,NM_000218.3(KCNQ1):c.1760C>G (p.Thr587Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1037124,1037124,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2768888:T:C,KCNQ1,VCV001018501,1018501,NM_000218.3(KCNQ1):c.1559T>C (p.Met520Thr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1018501,1018501,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572081:T:A,KCNQ1,VCV001004846,1004846,NM_000218.3(KCNQ1):c.752T>A (p.Leu251Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1004846,1004846,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2587654:CTG:C,KCNQ1,VCV000992394,992394,NM_000218.3(KCNQ1):c.1214_1215del (p.Leu405fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,992394,992394,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2776977:T:C,KCNQ1,VCV000983505,983505,NM_000218.3(KCNQ1):c.1686-9T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,983505,983505,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2588738:AC:A,KCNQ1,VCV000983047,983047,NM_000218.3(KCNQ1):c.1278del (p.Asp426fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,983047,983047,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2570701:AC:A,KCNQ1,VCV000983022,983022,NM_000218.3(KCNQ1):c.552del (p.Lys183_Tyr184insTer),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,983022,983022,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2699443:GCACTGAGGAGCCGCCGGGAGAGTGCCGCGCTGAGGAGCCCCCGGGGAGAGTGCCGCGCTGAGGAGCCCCCAGGAGAGTGCCGCGCTGAGGAGGCCCAGGGAGGACCGCGCGGAGGAGAACCATGCTGAGGAGCCCCCGGGGAGAACAGAACCGCGGCGAGAGGCCCCCGGAGAGAACCGCGCCGAAGAACCCCCGGGGACAACCGCGCCGAAGAACCCCCGGGGAGAACCGCGCCGAAAAGCCCCGGGTGCCCCGAGGAGAACGGCGCCGAGGAGTCCCCGGGGAGAACTGCGCCGAGGAGCCCCCAGAAGAGCGCCGCGCTGAGGAGCCCCGAGGAGAACCGCGCCGAGGGGCGCGCCGGGGAGAACCACGATGACTGACGCACCGAGGAGGACCGCGCTGAGGGGCGCACCGGGAGAATCGTGCTGAGGAGCCCCGGGGAGGACCACGCTGAGAGGCACCCCGGCAGAATCGCGCTGAGGGGCGCCCTGGCAGGATCTTGCTGAGGAGCTCCCTGGAGGTCCGTGCTGAGGCGACGCGGCGACCGTTCTGCCTGGAGACTGCGGCAGCGCTCCGACTGCCCCCGCCGCTGCCGACGTGGCGACCGCCCCCCACCTGCTGATTGGGCGGCAGCAGGGGAAGGCTTGCGGCGGGCTGCTGCACGGATTGGCTGGGTGCGGAAAGTGATGTGCCGTGTCCTGTCATTGGCCGAAAGAGTCTCGTTTTGATGCCACCCGGGCTCAGATTGGCCCAGCGGGTCCAGCGCCGCATGAGGCACTGGCTGGGTGTGAGGTGGCGCGAGCCGCCGCCCTCCCTGCCCCCACCCGTCGTCCCTGAGCACCACCGGGGGCCGGGGCCAGCGCCAGCCTCAGCGTTGGCATCGCCGGGGTGAGCTGGAGACACGGGCCAGTTCTCTGCGTGATGTGTTCACCACCCCGGGGTGACCGCGTGAGGACAGCGGCCGCACCCCGACACTGCTGTGGGCCCTCGGTGTGGAGGCCTGTGGGCGTCCAGGCCACGCCCGAGACCAGCCCCTCCGCCGGCGCCGCTGCAGCGACCCTCGAACCCGGGCAAGGTCTCCACCGCCGTGGCACCGGGTGCGGGAGGCGTTTTCCCCCCTCCCAGCGGGTCCATGCAGGGGATCGGGATGTTCTGAAGCCCCCACTGCTGTGCCTGGAACACCCGTGTCTGCCGCTCACCCCTGAGGACTTGGGACCTCAGGGGGTGAGTGGCAGGGGTGGCCGGGACATGCCAGGCCACCCACCTGGCAAAGGGCAGCGCCGAGGGCGCCCCGCGCCTGCCAGCGCCCGGCCGGGCCCGCCCTGCCCACCTCCCATCCCCCATCCGGGCGTGACACTTGACCGCGTCTGCCGGCCCCTCC:G,KCNQ1,VCV000977320,977320,NM_000218.3(KCNQ1):c.1514+37364_1514+38744del,Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,977320,977320,Silver-Russell syndrome 1,Silver-Russell syndrome 1,Silver-Russell syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2583544:CGGTAGGTGCCCCGTGGGTGCGTTTTCCCTGGCTCCTTGGACAGCTGGGGTCCTGGGGTGGCTGCACGCCCCTCCCTGTGAGCAGACCCACTTACGTTCAGAACCAAGAGGGTGCTTCCCTTCTAGAAGGTGCTATACTCCAGAGCCCCACCTGCCCTCCCTGGGGCCCTGGATGCAGACTTCCCGTTTGCAGTCCCCACTGGGGTCCTTGCAGGCAGTGTGGGAGGCAGCCTGGAGTGGCTGTGCATGGGCGCAGTGTGGGGCAGGCCTGCTCACTCAGCCCTGGGTGGGTGGGCAATGCTGCTACCACGCCCCATGGAGGCAGAATCTTGTGCCTGGAGAGGGCACTTCCACGCTGTGGCTGGGGGGGTTTTGTTCCATGTCCTTTCCAGAAACCACAGATTGTAAGGTGATGTGTCTAGTTCACAATGCCTGTATGTGGGTGTGTGTGTGTGTGTTATGTGCGTATGTGCATAATATGTGTTTGTGTTGTGTGTGTATAATTTTATGTTACCTGTATACTATGGGTATGTGTATATGTATCACATGGGTGTGTATGTACTGTATGTGTGCGTGCATACTGTGTATACATATTGTATGTGCATATGTTGTATTTAGTATGTGTGCTGTGTTGTGTGCACATGTATGCATTATACATGTATATCAGTATGTTTGCATATGTGTATTTATGTATCTGTGTCACAGGTATGTATCCTATACATCTATGTGCGTATATGTGTGTGCACATGACATGTAGACATGTGTTAGTATGTGCTTGTGTTAGTGTTTGTGTGTTAGTGTGGGTTAGTGTATGTTTTAGTGTATGTTAGTGTGTTTGTGTGTTAGTGTGTGGGTTTGTGTTTGTGTTTCTGTGTTAGTGTGTGTGTTAGTGTGCGTTAGTTTGTGTTTGTGTGTGTATGTTAGTGTATGTTAGTGTTAGTGTGTGTTAGTATGTGGGTTAGTGTGTGTGTTTGTGTGTTAGTGTGTGTGTTAGTATGTGTTTGTGTTAGTGTGTATTTGTGTGTGTTAGTGTTTGTGTGTGTTTGTGGGTTAGTGTGTGTTAGTGTGGGTTACTGTGTGTTAGTGTTTGTGTGTTAGTGTGTTTTTGTGTGTGTTAGTGTGTGGGTTAGTGTTTGTGTGTGTGTCAGTGTGTGTGTGTTAGTGTGCATATCTATTGTGTGTGTGTGTGCATCACACATGCACGTGCACCACGTGATCTCCTCTGTAGACACGGAGTTCCCTAGCTTCAGGGTGGGTCCTTTGCATCCCATCAACCGTCCTTGGGCGAGGCAGCAGCAGGGTCCTCCTCAGCTGAGGACTGCCTTCTCACTTGCGACCCCAATCCCAGTGCCCAGTATGACCCCTTCCTGGGCACATACAGATGGACCAGCCCACCTGGCCCCCAGAATGGTCCCTGGGAATGGGTTAGAGCGGCTGCAGCCCTGCCCCATGGGACTGGGCCCCTTGCTGGATAAGACCTGGGGTATAAGTTCTGCCCCCCATGCTGGCCCAGGACAGGCAGGCTGGGCCCGAGGTGGGACTTGGGGGGGCTTCCAGCACTGACCATACCTGGCCTTCCCACAACGGTGACCGGTAACCACGTCCTGAGGCTGCACCCAGCTGGCAGTGGCCTGTGTGGACGGGAGCCTCCTGTCCATTCCTTCCCAGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCTCACTCATTCAGGTGCGGTGCCTGCAAGGCCCTGGTCACTGTCATTTTGGTCACTGTTATTGTTGCATCCAGCCCTCACGGCCACCTGTCAGAACCATCATTGGCCCCTGCATCAGCTTGGCTGGCCTGTGGGGCATACTCTGCTTGTGGAAGCCTTGGCTGCTGTGGTGATGGGGTGAGCACGGGGCATTGGAGCCTGTCTTCCTCCAAAGCTGCTCCCATCAAGGGCCATGCCCTGTGGGCTGGAGAGGAGGCACGGCCGTGGCCATGCCAGGAGTGGACGTGGTTGGCTCTGAGGCTCCCTTGTGCTCCCATTCTCCCTCCCACTGCACAACAACCTGAGGGCTGAGTCTGGGAGTGGGGTGGCCAGGTGATTGTCCCCAAGGGAGGTAGGACCCAGCTGTGCAGTTGGTGCCTTCTGGAGGGCCTGGCATCCCTCAGGGCTCGGGAGGCCCTGGTGCCTGGAGGTGAGGACTGGCGATGGATGGCATGGGCCTCCCTCTGGGCTCACAAGGCCAGTGGGCTGGGAAAGGCAGAGCCCTGGAGCAACAGGGGCAGGAAGGTTCTGGAGGCAGGTGGGGAGGCAGGCAGTACCAAGCTCTGGGATGCTGGGCTCTGGCTCTGTCACTCCAGGCTCTCCAGGACCCACCAGAGAATGGGACTGCTCTGTTAACGTAAGCAAGGACTTGGCACAGGAGTCACTTGAGAATTGCGTCCCTGTGGGTCTCTCTTGTTGGCCACTGCAGGGCCAGGGCTGCCCTGAGGAACAGCCGCTGAGGTGCCCAGAGGGTGGGCGTTGCCGGGTTGAATGACAAGTGCCCACTGGGGATAGGGCCTCCGCCCAGTGCAGTGGCTGGGAGCACAGTGTCAGTTCCTCTGGGCACACTGGGCCTGATGTCCCCCAGGAAGGCCCAGGACCTGGGCAGCCCCCGCTGGCTGGCGTCCCCCCTGCAGTCCTCGTGAGCTCGCTGCCCCAGGCAAGGCCCAGGCTGTCAGGGGCCAGTCGCAGTCCTCCTGCACTCCTGGCTCAGCCATCGGGGGGGCTGTGTGCTCCCACCCTTAGCCTGGTTTTATGGCTTCACAGTTTCTCCTTCCTGGGAGACCATAAATCAGGCCCGTAAACCCGCCTTGGTCCCAGCATGAGCATGCTGGCCGCCCACGCCTGGCAGGGGACCACATTGGATTCCTGGTCCCACTCCCTGGGAACCACAGGTCCTTTGAAAGGGGTTCCCTCGGAAGCTGCACACACTGTGGGAGGACTGGAGTAGGGGCCCCAGGTGGCAGGTGTGCACAGGAGCAGGGCAGGGGTCATGGGGTTTGCCAGGGTTGGGGGACCACGTGGAGTGCTCAGCCTGTGTGTGTAACACTCGGGCCTTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCA:C,KCNQ1,VCV000977170,977170,NM_000218.3(KCNQ1):c.1032+1_1129-1del,Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,977170,977170,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2587646:GC:G,KCNQ1,VCV000966649,966649,NM_000218.3(KCNQ1):c.1207del (p.His403fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,966649,966649,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2583477:A:C,KCNQ1,VCV000960695,960695,NM_000218.3(KCNQ1):c.964A>C (p.Thr322Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,960695,960695,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2777033:G:A,KCNQ1,VCV000956049,956049,NM_000218.3(KCNQ1):c.1732+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,956049,956049,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2583547:T:C,KCNQ1,VCV000939724,939724,NM_000218.3(KCNQ1):c.1032+2T>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,939724,939724,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2588718:GAAAA:G,KCNQ1,VCV000930315,930315,NM_000218.3(KCNQ1):c.1262_1265del (p.Lys421fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,930315,930315,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2662006:T:TGAGAACCAACAGCTTCGCC,KCNQ1,VCV000926196,926196,NM_000218.3(KCNQ1):c.1443_1461dup (p.Asp488fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,926196,926196,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2588790:CA:C,KCNQ1,VCV000925351,925351,NM_000218.3(KCNQ1):c.1330del (p.Thr444fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,925351,925351,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,unanchored,0.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2588815:CG:C,KCNQ1,VCV000922607,922607,NM_000218.3(KCNQ1):c.1356del (p.Leu453fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,922607,922607,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2585222:GCTCGGGGTTTG:CA,KCNQ1,VCV000919956,919956,NM_000218.3(KCNQ1):c.1043_1054delinsCA (p.Gly348fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,919956,919956,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572105:G:C,KCNQ1,VCV000869436,869436,NM_000218.3(KCNQ1):c.776G>C (p.Arg259Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,869436,869436,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2585288:C:A,KCNQ1,VCV000869435,869435,NM_000218.3(KCNQ1):c.1109C>A (p.Ala370Glu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,869435,869435,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2570626:AG:A,KCNQ1,VCV000869434,869434,NM_000218.2(KCNQ1):c.478_478del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,869434,869434,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2768869:ATTAAGGTCAT:A,KCNQ1,VCV000869433,869433,NM_000218.3(KCNQ1):c.1542_1551del (p.Lys515fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,869433,869433,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572874:TCCTGGG:T,KCNQ1,VCV000861314,861314,NM_000218.3(KCNQ1):c.813_818del (p.Gly272_Leu273del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,861314,861314,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572072:G:A,KCNQ1,VCV000855976,855976,NM_000218.3(KCNQ1):c.743G>A (p.Trp248Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,855976,855976,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2587671:CA:C,KCNQ1,VCV000844409,844409,NM_000218.3(KCNQ1):c.1233del (p.Lys411fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,844409,844409,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572107:C:T,KCNQ1,VCV000842276,842276,NM_000218.3(KCNQ1):c.778C>T (p.Gln260Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,842276,842276,Long QT syndrome|KCNQ1-related disorder,Long QT syndrome|KCNQ1-related disorder,Long QT syndrome|KCNQ1-related disorder,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2570712:TGG:T,KCNQ1,VCV000817323,817323,NM_000218.3(KCNQ1):c.566_567del (p.Gly189fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,817323,817323,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2570662:AC:A,KCNQ1,VCV000817016,817016,NM_000218.3(KCNQ1):c.513del (p.Glu170_Tyr171insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,817016,817016,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2587693:G:A,KCNQ1,VCV000812675,812675,NM_000218.3(KCNQ1):c.1251+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,812675,812675,Long QT syndrome 1|Long QT syndrome,Long QT syndrome 1|Long QT syndrome,Long QT syndrome 1|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2445471:T:A,KCNQ1,VCV000684802,684802,NM_000218.3(KCNQ1):c.373T>A (p.Tyr125Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,684802,684802,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2528008:T:C,KCNQ1,VCV000684787,684787,NM_000218.3(KCNQ1):c.467T>C (p.Leu156Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,684787,684787,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2776056:T:G,KCNQ1,VCV000667007,667007,NM_000218.3(KCNQ1):c.1685+2T>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,667007,667007,"Congenital long QT syndrome|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1","Congenital long QT syndrome|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1","Congenital long QT syndrome|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1",variation_id,,,,representation_repairable,0.45,LQTS|SQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+11:2572055:C:A,KCNQ1,VCV000665471,665471,NM_000218.3(KCNQ1):c.726C>A (p.Asp242Glu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,665471,665471,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2583486:G:C,KCNQ1,VCV000660595,660595,NM_000218.3(KCNQ1):c.973G>C (p.Gly325Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,660595,660595,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2571404:G:A,KCNQ1,VCV000651458,651458,NM_000218.3(KCNQ1):c.683+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,651458,651458,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2583550:G:T,KCNQ1,VCV000641597,641597,NM_000218.3(KCNQ1):c.1032+5G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,641597,641597,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2585305:C:T,KCNQ1,VCV000620198,620198,NM_000218.3(KCNQ1):c.1126C>T (p.Gln376Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,620198,620198,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572846:G:T,KCNQ1,VCV000620103,620103,NM_000218.3(KCNQ1):c.781G>T (p.Glu261Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,620103,620103,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2768851:GA:G,KCNQ1,VCV000587644,587644,NM_000218.3(KCNQ1):c.1524del (p.Glu508fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,587644,587644,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2583433:A:G,KCNQ1,VCV000582668,582668,NM_000218.3(KCNQ1):c.922-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,582668,582668,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2583442:TCAC:T,KCNQ1,VCV000581345,581345,NM_000218.3(KCNQ1):c.932CCA[1] (p.Thr312del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,581345,581345,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2587579:A:T,KCNQ1,VCV000581004,581004,NM_000218.3(KCNQ1):c.1138A>T (p.Arg380Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,581004,581004,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2768841:CAG:C,KCNQ1,VCV000576205,576205,NM_000218.3(KCNQ1):c.1515-2_1515-1del,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,576205,576205,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2571324:G:C,KCNQ1,VCV000573523,573523,NM_000218.3(KCNQ1):c.605-1G>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,573523,573523,"Long QT syndrome|Short QT syndrome type 2;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Long QT syndrome 1","Long QT syndrome|Short QT syndrome type 2;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Long QT syndrome 1","Long QT syndrome|Short QT syndrome type 2;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Long QT syndrome 1",variation_id,,,,locus_or_regional_context,0.25,LQTS|SQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+11:2572061:GGGAGGCACCT:G,KCNQ1,VCV000570590,570590,NM_000218.3(KCNQ1):c.739_748del (p.Thr247fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,570590,570590,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2777002:G:C,KCNQ1,VCV000570319,570319,NM_000218.3(KCNQ1):c.1702G>C (p.Gly568Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,570319,570319,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2583545:G:T,KCNQ1,VCV000560649,560649,NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,560649,560649,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572850:T:C,KCNQ1,VCV000560359,560359,NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,560359,560359,Prolonged QT interval|Long QT syndrome 1|Long QT syndrome|Cardiovascular phenotype,Prolonged QT interval|Long QT syndrome 1|Long QT syndrome|Cardiovascular phenotype,Prolonged QT interval|Long QT syndrome 1|Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2588717:AG:A,KCNQ1,VCV000526930,526930,NM_000218.3(KCNQ1):c.1257del (p.Lys422fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,526930,526930,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2445192:A:T,KCNQ1,VCV000523769,523769,NM_000218.3(KCNQ1):c.94A>T (p.Lys32Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,523769,523769,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2583447:A:T,KCNQ1,VCV000522585,522585,NM_000218.3(KCNQ1):c.934A>T (p.Thr312Ser),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,522585,522585,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572059:C:T,KCNQ1,VCV000519369,519369,NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519369,519369,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+11:2570659:AG:A,KCNQ1,VCV000519357,519357,NM_000218.3(KCNQ1):c.510del (p.Glu170fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519357,519357,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2777034:TG:T,KCNQ1,VCV000517664,517664,NM_000218.3(KCNQ1):c.1732+5del,Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,517664,517664,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2661990:AGCAT:A,KCNQ1,VCV000496690,496690,NM_000218.3(KCNQ1):c.1426_1429del (p.Met476fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,496690,496690,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2445473:C:A,KCNQ1,VCV000489011,489011,NM_000218.3(KCNQ1):c.375C>A (p.Tyr125Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,489011,489011,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572899:C:G,KCNQ1,VCV000456869,456869,NM_000218.3(KCNQ1):c.834C>G (p.Tyr278Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456869,456869,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2583456:T:C,KCNQ1,VCV000449302,449302,NM_000218.3(KCNQ1):c.943T>C (p.Tyr315His),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,449302,449302,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2571373:A:AG,KCNQ1,VCV000449283,449283,NM_000218.3(KCNQ1):c.657dup (p.Gln220fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,449283,449283,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2775977:C:CGATGT,KCNQ1,VCV000448975,448975,NM_000218.3(KCNQ1):c.1610_1614dup (p.Arg539fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,448975,448975,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572060:AGG:A,KCNQ1,VCV000438610,438610,NM_000218.3(KCNQ1):c.733_734del (p.Gly245fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,438610,438610,Jervell and Lange-Nielsen syndrome 1|Abnormality of the cardiovascular system,Jervell and Lange-Nielsen syndrome 1|Abnormality of the cardiovascular system,Jervell and Lange-Nielsen syndrome 1|Abnormality of the cardiovascular system,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2570706:G:T,KCNQ1,VCV000432149,432149,NM_000218.3(KCNQ1):c.556G>T (p.Gly186Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,432149,432149,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2588785:CA:C,KCNQ1,VCV000431370,431370,NM_000218.3(KCNQ1):c.1325del (p.His442fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,431370,431370,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2768860:CG:C,KCNQ1,VCV000430941,430941,NM_000218.3(KCNQ1):c.1534del (p.Ala512fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,430941,430941,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2528004:ACT:A,KCNQ1,VCV000421737,421737,NM_000218.3(KCNQ1):c.468_469del (p.Phe157fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,421737,421737,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2445231:C:CCGGCGGG,KCNQ1,VCV000420658,420658,NM_000218.3(KCNQ1):c.139_145dup (p.Ala49fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,420658,420658,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2571340:TG:T,KCNQ1,VCV000420529,420529,NM_000218.3(KCNQ1):c.622del (p.Ala208fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,420529,420529,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2445478:T:TCG,KCNQ1,VCV000419579,419579,NM_000218.3(KCNQ1):c.382_383dup (p.Val129fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,419579,419579,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2587616:G:A,KCNQ1,VCV000405268,405268,NM_000218.3(KCNQ1):c.1175G>A (p.Trp392Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405268,405268,Long QT syndrome||Jervell and Lange-Nielsen syndrome,Long QT syndrome||Jervell and Lange-Nielsen syndrome,Long QT syndrome||Jervell and Lange-Nielsen syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2778025:AG:A,KCNQ1,VCV000405264,405264,NM_000218.3(KCNQ1):c.1783del (p.Arg594_Val595insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405264,405264,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572912:G:C,KCNQ1,VCV000405263,405263,NM_000218.3(KCNQ1):c.847G>C (p.Ala283Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405263,405263,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572068:ACCTGGAGGCT:A,KCNQ1,VCV000405262,405262,NM_000218.3(KCNQ1):c.745_754del (p.Arg249fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,405262,405262,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2585225:C:A,KCNQ1,VCV000405261,405261,NM_000218.3(KCNQ1):c.1046C>A (p.Ser349Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,405261,405261,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572050:G:T,KCNQ1,VCV000405255,405255,NM_000218.3(KCNQ1):c.721G>T (p.Val241Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,405255,405255,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572883:T:C,KCNQ1,VCV000405254,405254,NM_000218.3(KCNQ1):c.818T>C (p.Leu273Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405254,405254,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572846:GA:TT,KCNQ1,VCV000405253,405253,NM_000218.3(KCNQ1):c.781_782delinsTT (p.Glu261Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,MNV_or_substitution,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405253,405253,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+11:2572908:C:A,KCNQ1,VCV000379504,379504,NM_000218.3(KCNQ1):c.843C>A (p.Tyr281Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,379504,379504,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+11:2583434:G:A,KCNQ1,VCV000372568,372568,NM_000218.3(KCNQ1):c.922-1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,372568,372568,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958401:CCGGGGCGCCCGCGCCGCCCGCG:C,KCNH2,VCV004804554,4804554,NM_000238.4(KCNH2):c.552_573del (p.Ala185fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4804554,4804554,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150957304:TCA:T,KCNH2,VCV004763986,4763986,NM_000238.4(KCNH2):c.1113_1114del (p.Lys373fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4763986,4763986,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974776:TG:T,KCNH2,VCV004758983,4758983,NM_000238.4(KCNH2):c.241del (p.Gln81fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4758983,4758983,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952789:CA:C,KCNH2,VCV004758579,4758579,NM_000238.4(KCNH2):c.1192del (p.Trp398fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4758579,4758579,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947810:C:CCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCT,KCNH2,VCV004757905,4757905,NM_000238.4(KCNH2):c.2699_2760dup (p.Gly921fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4757905,4757905,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974714:CT:C,KCNH2,VCV004733133,4733133,NM_000238.4(KCNH2):c.303del (p.Asp102fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4733133,4733133,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948451:C:CGT,KCNH2,VCV004728357,4728357,NM_000238.4(KCNH2):c.2683_2684dup (p.Asp896fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4728357,4728357,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974927:TG:T,KCNH2,VCV004727073,4727073,NM_000238.4(KCNH2):c.90del (p.Ile31fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4727073,4727073,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950996:GGGGATCT:G,KCNH2,VCV004726900,4726900,NM_000238.4(KCNH2):c.2063_2069del (p.Gln688fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4726900,4726900,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951619:G:A,KCNH2,VCV004724072,4724072,NM_000238.4(KCNH2):c.1774C>T (p.Gln592Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4724072,4724072,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947659:TC:T,KCNH2,VCV004722731,4722731,NM_000238.4(KCNH2):c.2911del (p.Glu971fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4722731,4722731,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948935:AG:A,KCNH2,VCV004721201,4721201,NM_000238.4(KCNH2):c.2512del (p.Leu838fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4721201,4721201,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958060:G:GGT,KCNH2,VCV004720344,4720344,NM_000238.4(KCNH2):c.913_914dup (p.Gly306fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4720344,4720344,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950985:C:CT,KCNH2,VCV004720342,4720342,NM_000238.4(KCNH2):c.2080_2081insA (p.Arg694fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4720342,4720342,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948873:TG:T,KCNH2,VCV004719590,4719590,NM_000238.4(KCNH2):c.2574del (p.Thr859fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4719590,4719590,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951653:GT:G,KCNH2,VCV004715748,4715748,NM_000238.4(KCNH2):c.1739del (p.Asp580fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4715748,4715748,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950398:CACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCA:C,KCNH2,VCV004715444,4715444,NM_000238.4(KCNH2):c.2146-50_2167del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4715444,4715444,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947816:T:TC,KCNH2,VCV004714508,4714508,NM_000238.4(KCNH2):c.2754_2755insG (p.Ser919fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4714508,4714508,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947516:T:C,KCNH2,VCV004710895,4710895,NM_000238.4(KCNH2):c.2966-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4710895,4710895,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947452:G:A,KCNH2,VCV004710749,4710749,NM_000238.4(KCNH2):c.3028C>T (p.Gln1010Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4710749,4710749,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951022:C:A,KCNH2,VCV004709557,4709557,NM_000238.4(KCNH2):c.2044G>T (p.Glu682Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4709557,4709557,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950393:G:A,KCNH2,VCV004709556,4709556,NM_000238.4(KCNH2):c.2173C>T (p.Gln725Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4709556,4709556,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974868:CTCGCAGAAGCCGTCG:C,KCNH2,VCV004686179,4686179,NM_000238.4(KCNH2):c.135_149del (p.Asn45_Glu50delinsLys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4686179,4686179,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974766:C:CTGCGCGATCTGCGCGGCAGCGCGGCGCTGCG,KCNH2,VCV004681926,4681926,NM_000238.4(KCNH2):c.221_251dup (p.Gln84fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4681926,4681926,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947386:GACCC:CCG,KCNH2,VCV004614356,4614356,NM_000238.4(KCNH2):c.3090_3094delinsCGG (p.Arg1032fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4614356,4614356,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958125:ACGAGGCGCGGCGCACG:A,KCNH2,VCV004614351,4614351,NM_000238.4(KCNH2):c.834_849del (p.Val279fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4614351,4614351,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150977911:CAT:C,KCNH2,VCV004614346,4614346,NM_000238.4(KCNH2):c.1_2del (p.Met1fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4614346,4614346,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950421:CTGGGGGCAGGG:C,KCNH2,VCV004614344,4614344,NM_000238.4(KCNH2):c.2146-12_2146-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4614344,4614344,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958115:T:TCGTCGGC,KCNH2,VCV004529668,4529668,NM_000238.4(KCNH2):c.853_859dup (p.Asp287fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4529668,4529668,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947398:A:AGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATC,KCNH2,VCV004281328,4281328,NM_000238.4(KCNH2):c.3041_3081dup (p.Ser1028fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4281328,4281328,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951686:G:T,KCNH2,VCV004280330,4280330,NM_000238.4(KCNH2):c.1707C>A (p.Tyr569Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4280330,4280330,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952518:G:GCGGC,KCNH2,VCV004090314,4090314,NM_000238.4(KCNH2):c.1460_1463dup (p.Ile489fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4090314,4090314,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951522:C:A,KCNH2,VCV004074744,4074744,NM_000238.4(KCNH2):c.1871G>T (p.Ser624Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4074744,4074744,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974883:G:GGAC,KCNH2,VCV004074721,4074721,NM_000238.4(KCNH2):c.134_135insGTC (p.Asn45delinsLysSer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4074721,4074721,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150949002:CA:C,KCNH2,VCV004071954,4071954,NM_000238.4(KCNH2):c.2445del (p.Gly816fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4071954,4071954,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948455:CGCCT:C,KCNH2,VCV003911914,3911914,NM_000238.4(KCNH2):c.2677_2680del (p.Arg893fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3911914,3911914,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950971:C:A,KCNH2,VCV003911046,3911046,NM_000238.4(KCNH2):c.2095G>T (p.Glu699Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3911046,3911046,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951627:A:G,KCNH2,VCV003900638,3900638,NM_000238.4(KCNH2):c.1766T>C (p.Leu589Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3900638,3900638,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950199:G:C,KCNH2,VCV003895127,3895127,NM_000238.4(KCNH2):c.2367C>G (p.Ile789Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3895127,3895127,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948472:CTTGCGCTTGCG:C,KCNH2,VCV003895051,3895051,NM_000238.4(KCNH2):c.2653_2663del (p.Arg885fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3895051,3895051,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150977847:C:T,KCNH2,VCV003895040,3895040,NM_000238.4(KCNH2):c.67G>A (p.Glu23Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3895040,3895040,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952746:C:T,KCNH2,VCV003894984,3894984,NM_000238.4(KCNH2):c.1236G>A (p.Trp412Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3894984,3894984,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948465:AG:A,KCNH2,VCV003894466,3894466,NM_000238.4(KCNH2):c.2670del (p.Phe891fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894466,3894466,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947792:ACGGCCCCCCCGGC:A,KCNH2,VCV003893973,3893973,NM_000238.4(KCNH2):c.2766_2778del (p.Pro923fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3893973,3893973,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958239:C:CGG,KCNH2,VCV003862757,3862757,NM_000238.4(KCNH2):c.734_735dup (p.Gly246fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3862757,3862757,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947802:C:CG,KCNH2,VCV003775096,3775096,NM_000238.4(KCNH2):c.2768dup (p.Pro926fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3775096,3775096,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947833:GC:G,KCNH2,VCV003773804,3773804,NM_000238.4(KCNH2):c.2737del (p.Ala913fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3773804,3773804,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947606:CT:C,KCNH2,VCV003764662,3764662,NM_000238.4(KCNH2):c.2964del (p.Gly989fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3764662,3764662,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150977853:T:TG,KCNH2,VCV003728256,3728256,NM_000238.4(KCNH2):c.60dup (p.Lys21fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3728256,3728256,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974851:CG:C,KCNH2,VCV003724054,3724054,NM_000238.4(KCNH2):c.166del (p.Arg56fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3724054,3724054,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948466:G:GGACAACTT,KCNH2,VCV003721525,3721525,NM_000238.4(KCNH2):c.2662_2669dup (p.Phe891fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3721525,3721525,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974776:T:TGCGCGGCA,KCNH2,VCV003720793,3720793,NM_000238.4(KCNH2):c.234_241dup (p.Gln81fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3720793,3720793,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951583:C:A,KCNH2,VCV003720791,3720791,NM_000238.4(KCNH2):c.1810G>T (p.Gly604Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3720791,3720791,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950211:GC:G,KCNH2,VCV003720787,3720787,NM_000238.4(KCNH2):c.2354del (p.Gly785fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3720787,3720787,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947804:GCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGC:G,KCNH2,VCV003712259,3712259,NM_000238.4(KCNH2):c.2732_2766del (p.Gly911fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3712259,3712259,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952480:T:G,KCNH2,VCV003657287,3657287,NM_000238.4(KCNH2):c.1502A>C (p.Asp501Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3657287,3657287,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974794:TGC:T,KCNH2,VCV003655448,3655448,NM_000238.4(KCNH2):c.222_223del (p.Gln75fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3655448,3655448,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951069:AG:A,KCNH2,VCV003651645,3651645,NM_000238.4(KCNH2):c.1996del (p.Leu666fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3651645,3651645,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958119:CG:C,KCNH2,VCV003651113,3651113,NM_000238.4(KCNH2):c.855del (p.Asp286fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3651113,3651113,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950175:GGCCACGACGACGTC:G,KCNH2,VCV003602222,3602222,NM_000238.4(KCNH2):c.2377_2390del (p.Asp793fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3602222,3602222,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974842:A:G,KCNH2,VCV003544416,3544416,NM_000238.4(KCNH2):c.176T>C (p.Val59Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3544416,3544416,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951076:G:A,KCNH2,VCV003386898,3386898,NM_000238.4(KCNH2):c.1990C>T (p.Gln664Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3386898,3386898,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974852:G:A,KCNH2,VCV003383250,3383250,NM_000238.4(KCNH2):c.166C>T (p.Arg56Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3383250,3383250,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951102:A:T,KCNH2,VCV003382540,3382540,NM_000238.4(KCNH2):c.1964T>A (p.Ile655Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3382540,3382540,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951462:A:AC,KCNH2,VCV003376960,3376960,NM_000238.4(KCNH2):c.1930dup (p.Val644fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3376960,3376960,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947807:GGCCCCGGCTACTCGGCCCT:G,KCNH2,VCV003376939,3376939,NM_000238.4(KCNH2):c.2745_2763del (p.Pro917fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3376939,3376939,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951801:C:G,KCNH2,VCV003370336,3370336,NM_000238.4(KCNH2):c.1592G>C (p.Arg531Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3370336,3370336,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974774:T:TCTGCGCGG,KCNH2,VCV003341931,3341931,NM_000238.4(KCNH2):c.236_243dup (p.Ile82fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3341931,3341931,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952717:G:T,KCNH2,VCV003338328,3338328,NM_000238.4(KCNH2):c.1265C>A (p.Ala422Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3338328,3338328,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947400:AG:A,KCNH2,VCV003255227,3255227,NM_000238.4(KCNH2):c.3079del (p.Leu1027fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3255227,3255227,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951576:GAGGGGCCGCCCAG:ATACATACTT,KCNH2,VCV003254651,3254651,NM_000238.4(KCNH2):c.1804_1817delinsAAGTATGTAT (p.Leu602fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3254651,3254651,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958109:TCGATGTCGTCGGCCGA:T,KCNH2,VCV003254536,3254536,NM_000238.4(KCNH2):c.850_865del (p.Ser284fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3254536,3254536,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950944:TGTAGG:T,KCNH2,VCV003252026,3252026,NM_000238.4(KCNH2):c.2117_2121del (p.Ser706fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3252026,3252026,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150977842:G:GGC,KCNH2,VCV003236854,3236854,NM_000238.4(KCNH2):c.71_72insGC (p.Gln25fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3236854,3236854,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947367:ACGTCGCCC:A,KCNH2,VCV003230731,3230731,NM_000238.4(KCNH2):c.3105_3112del (p.Asp1037fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3230731,3230731,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974721:G:C,KCNH2,VCV003230730,3230730,NM_000238.4(KCNH2):c.297C>G (p.Tyr99Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3230730,3230730,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950843:TGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGG:T,KCNH2,VCV003230725,3230725,NM_000238.4(KCNH2):c.2013_2145+77del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3230725,3230725,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952852:A:AC,KCNH2,VCV003076042,3076042,NC_000007.14:g.150952854dup,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3076042,3076042,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952817:TG:T,KCNH2,VCV003076025,3076025,NM_000238.4(KCNH2):c.1164del (p.Glu387_Tyr388insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3076025,3076025,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947857:A:ACCTC,KCNH2,VCV003075307,3075307,NM_000238.4(KCNH2):c.2710_2713dup (p.Val905fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3075307,3075307,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950920:CCG:C,KCNH2,VCV003074111,3074111,NM_000238.4(KCNH2):c.2144_2145del (p.Ala715fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3074111,3074111,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951479:CT:C,KCNH2,VCV003068475,3068475,NM_000238.4(KCNH2):c.1913del (p.Lys638fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3068475,3068475,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951530:G:T,KCNH2,VCV003066169,3066169,NM_000238.4(KCNH2):c.1863C>A (p.Ser621Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3066169,3066169,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951730:A:G,KCNH2,VCV003064233,3064233,NM_000238.4(KCNH2):c.1663T>C (p.Cys555Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3064233,3064233,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958303:CCCTG:C,KCNH2,VCV002918473,2918473,NM_000238.4(KCNH2):c.668_671del (p.Ala223fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2918473,2918473,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150946999:G:A,KCNH2,VCV002906537,2906537,NM_000238.4(KCNH2):c.3208C>T (p.Gln1070Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2906537,2906537,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974750:C:A,KCNH2,VCV002880265,2880265,NM_000238.4(KCNH2):c.268G>T (p.Glu90Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2880265,2880265,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958139:AC:A,KCNH2,VCV002858211,2858211,NM_000238.4(KCNH2):c.835del (p.Val279fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2858211,2858211,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150946925:C:CA,KCNH2,VCV002832789,2832789,NM_000238.4(KCNH2):c.3281dup (p.Leu1095fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2832789,2832789,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948906:ACTCAGGGT:A,KCNH2,VCV002821739,2821739,NM_000238.4(KCNH2):c.2534_2541del (p.Tyr845fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2821739,2821739,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952722:G:C,KCNH2,VCV002814358,2814358,NM_000238.4(KCNH2):c.1260C>G (p.Tyr420Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2814358,2814358,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150957440:AG:A,KCNH2,VCV002813131,2813131,NM_000238.4(KCNH2):c.978del (p.Tyr327fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2813131,2813131,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958217:G:GC,KCNH2,VCV002790199,2790199,NM_000238.4(KCNH2):c.757dup (p.Ala253fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2790199,2790199,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948995:G:C,KCNH2,VCV002773436,2773436,NM_000238.4(KCNH2):c.2453C>G (p.Ser818Trp),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2773436,2773436,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+7:150947795:GCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCC:G,KCNH2,VCV002773424,2773424,NM_000238.4(KCNH2):c.2742_2775del (p.Ala915fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2773424,2773424,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952632:C:CTGGCAGGCGTAGCCACACTCGG,KCNH2,VCV002772506,2772506,NM_000238.4(KCNH2):c.1328_1349dup (p.Gln450fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2772506,2772506,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950146:GTGCCCGCCCCCCACCCCATACC:G,KCNH2,VCV002770983,2770983,NM_000238.4(KCNH2):c.2398_2398+21del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2770983,2770983,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947384:C:CCG,KCNH2,VCV002763043,2763043,NM_000238.4(KCNH2):c.3094_3095dup (p.Arg1033fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2763043,2763043,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952800:GC:G,KCNH2,VCV002760013,2760013,NM_000238.4(KCNH2):c.1181del (p.Arg394fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2760013,2760013,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951768:TA:T,KCNH2,VCV002758800,2758800,NM_000238.4(KCNH2):c.1624del (p.Tyr542fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2758800,2758800,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150946808:AGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCT:A,KCNH2,VCV002758297,2758297,NM_000238.4(KCNH2):c.3194_3330+68del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2758297,2758297,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958207:G:GA,KCNH2,VCV002754986,2754986,NM_000238.4(KCNH2):c.767dup (p.Asn257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2754986,2754986,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958315:GT:G,KCNH2,VCV002753718,2753718,NM_000238.4(KCNH2):c.659del (p.Asn220fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2753718,2753718,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948483:G:GTTGCC,KCNH2,VCV002748964,2748964,NM_000238.4(KCNH2):c.2648_2652dup (p.Arg885fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2748964,2748964,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951767:G:T,KCNH2,VCV002748626,2748626,NM_000238.4(KCNH2):c.1626C>A (p.Tyr542Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2748626,2748626,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974846:C:A,KCNH2,VCV002746100,2746100,NM_000238.4(KCNH2):c.172G>T (p.Glu58Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2746100,2746100,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947378:G:GGGCC,KCNH2,VCV002745936,2745936,NM_000238.4(KCNH2):c.3098_3101dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2745936,2745936,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947055:C:G,KCNH2,VCV002744101,2744101,NM_000238.4(KCNH2):c.3153-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2744101,2744101,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951515:GC:G,KCNH2,VCV002735100,2735100,NM_000238.4(KCNH2):c.1877del (p.Gly626fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2735100,2735100,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951109:CA:C,KCNH2,VCV002735098,2735098,NM_000238.4(KCNH2):c.1956del (p.Met651_Tyr652insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2735098,2735098,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150949051:T:C,KCNH2,VCV002735096,2735096,NM_000238.4(KCNH2):c.2399-2A>G,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2735096,2735096,Long QT syndrome||Long QT syndrome 2,Long QT syndrome||Long QT syndrome 2,Long QT syndrome||Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958121:GCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTT:ACGCCTCGGGCTC,KCNH2,VCV002727880,2727880,NM_000238.4(KCNH2):c.769_854delinsGAGCCCGAGGCGT (p.Asn257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2727880,2727880,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950402:CAG:C,KCNH2,VCV002725070,2725070,NM_000238.4(KCNH2):c.2162_2163del (p.Pro721fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2725070,2725070,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950409:G:GC,KCNH2,VCV002698764,2698764,NM_000238.4(KCNH2):c.2156dup (p.Phe720fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2698764,2698764,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947804:GCCGGCCCCGGCTACTCGGC:G,KCNH2,VCV002694065,2694065,NM_000238.4(KCNH2):c.2748_2766del (p.Pro917fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2694065,2694065,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150946949:A:AC,KCNH2,VCV002687478,2687478,NM_000238.4(KCNH2):c.3257_3258insG (p.Gly1087fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2687478,2687478,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951639:C:T,KCNH2,VCV002665002,2665002,NM_000238.4(KCNH2):c.1754G>A (p.Trp585Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2665002,2665002,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947853:CG:C,KCNH2,VCV002664629,2664629,NM_000238.4(KCNH2):c.2717del (p.Ser906fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2664629,2664629,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947683:G:GGCCT,KCNH2,VCV002637626,2637626,NM_000238.4(KCNH2):c.2884_2887dup (p.Pro963fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2637626,2637626,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150957325:TC:T,KCNH2,VCV002579645,2579645,NM_000238.4(KCNH2):c.1093del (p.Glu365fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2579645,2579645,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948983:A:G,KCNH2,VCV002575020,2575020,NM_000238.4(KCNH2):c.2465T>C (p.Val822Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575020,2575020,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951699:G:C,KCNH2,VCV002574032,2574032,NM_000238.4(KCNH2):c.1694C>G (p.Ala565Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2574032,2574032,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947360:GCTCTCCACGTCGCCCCG:CCGCCGACCC,KCNH2,VCV002571299,2571299,NM_000238.4(KCNH2):c.3103_3120delinsGGGTCGGCGG (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2571299,2571299,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947643:GT:G,KCNH2,VCV002567296,2567296,NM_000238.4(KCNH2):c.2927del (p.Asp976fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2567296,2567296,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951447:C:G,KCNH2,VCV002452993,2452993,NM_000238.4(KCNH2):c.1945+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2452993,2452993,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150957427:CT:C,KCNH2,VCV002442075,2442075,NM_000238.4(KCNH2):c.991del (p.Ser331fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2442075,2442075,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150946928:CGG:C,KCNH2,VCV002429379,2429379,NM_000238.4(KCNH2):c.3277_3278del (p.Pro1093fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2429379,2429379,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947713:A:AG,KCNH2,VCV002227986,2227986,NM_000238.4(KCNH2):c.2857dup (p.Leu953fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2227986,2227986,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951459:A:C,KCNH2,VCV002136626,2136626,NM_000238.4(KCNH2):c.1934T>G (p.Met645Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2136626,2136626,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947034:G:GC,KCNH2,VCV002136623,2136623,NM_000238.4(KCNH2):c.3172dup (p.Ala1058fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2136623,2136623,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952634:GGCAGGCGTAGCCACACTCGGTA:G,KCNH2,VCV002133333,2133333,NM_000238.4(KCNH2):c.1326_1347del (p.Thr443fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2133333,2133333,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150945474:G:GC,KCNH2,VCV002130516,2130516,NM_000238.4(KCNH2):c.3370dup (p.Ala1124fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2130516,2130516,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948544:C:G,KCNH2,VCV002128179,2128179,NM_000238.4(KCNH2):c.2593-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2128179,2128179,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951045:TGGTA:T,KCNH2,VCV002125899,2125899,NM_000238.4(KCNH2):c.2017_2020del (p.Tyr673fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2125899,2125899,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951488:G:T,KCNH2,VCV002121024,2121024,NM_000238.4(KCNH2):c.1905C>A (p.Asn635Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2121024,2121024,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951710:CGCGATGA:C,KCNH2,VCV002120904,2120904,NM_000238.4(KCNH2):c.1676_1682del (p.Leu559fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2120904,2120904,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951812:CG:C,KCNH2,VCV002095758,2095758,NM_000238.4(KCNH2):c.1580del (p.Ala527fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2095758,2095758,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951469:TGGA:T,KCNH2,VCV002088283,2088283,NM_000238.4(KCNH2):c.1921_1923del (p.Ser641del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2088283,2088283,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947872:T:TC,KCNH2,VCV002085464,2085464,NM_000238.4(KCNH2):c.2698dup (p.Glu900fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2085464,2085464,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950260:A:AGT,KCNH2,VCV002078663,2078663,NM_000238.4(KCNH2):c.2304_2305dup (p.Leu769fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2078663,2078663,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950406:G:GA,KCNH2,VCV002071298,2071298,NM_000238.4(KCNH2):c.2159dup (p.Pro721_Glu722insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2071298,2071298,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950961:TG:T,KCNH2,VCV002062924,2062924,NM_000238.4(KCNH2):c.2104del (p.Gln702fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2062924,2062924,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951769:A:G,KCNH2,VCV002055725,2055725,NM_000238.4(KCNH2):c.1624T>C (p.Tyr542His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2055725,2055725,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951690:C:T,KCNH2,VCV002042701,2042701,NM_000238.4(KCNH2):c.1703G>A (p.Trp568Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2042701,2042701,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150946955:C:CGGGGTGG,KCNH2,VCV002033107,2033107,NM_000238.4(KCNH2):c.3245_3251dup (p.Gly1085fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2033107,2033107,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951345:AGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCAT:A,KCNH2,VCV002032030,2032030,NM_000238.4(KCNH2):c.1720_1945+102del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2032030,2032030,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958414:GCCGCCCGCGCCGC:G,KCNH2,VCV002023450,2023450,NM_000238.4(KCNH2):c.548_560del (p.Gly183fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2023450,2023450,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951627:A:AGGTT,KCNH2,VCV002016168,2016168,NM_000238.4(KCNH2):c.1762_1765dup (p.Leu589fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2016168,2016168,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947376:C:CGGGG,KCNH2,VCV002012895,2012895,NM_000238.4(KCNH2):c.3100_3103dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2012895,2012895,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947718:GCTGGAGCTGCGGC:G,KCNH2,VCV002002742,2002742,NM_000238.4(KCNH2):c.2840_2852del (p.Gly947fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2002742,2002742,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958414:GCCGCCCGC:G,KCNH2,VCV001994302,1994302,NM_000238.4(KCNH2):c.553_560del (p.Ala185fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1994302,1994302,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950275:G:GGT,KCNH2,VCV001994292,1994292,NM_000238.4(KCNH2):c.2289_2290dup (p.Pro764fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1994292,1994292,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958488:AG:A,KCNH2,VCV001968946,1968946,NM_000238.4(KCNH2):c.486del (p.Phe163fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1968946,1968946,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150957404:T:A,KCNH2,VCV001805233,1805233,NM_000238.4(KCNH2):c.1015A>T (p.Asn339Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1805233,1805233,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947380:G:GC,KCNH2,VCV001804945,1804945,NM_000238.4(KCNH2):c.3099dup (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1804945,1804945,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150957290:C:G,KCNH2,VCV001799488,1799488,NM_000238.4(KCNH2):c.1128+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1799488,1799488,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947667:C:CGGCG,KCNH2,VCV001797445,1797445,NM_000238.4(KCNH2):c.2900_2903dup (p.Gly969fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1797445,1797445,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947676:TC:T,KCNH2,VCV001797337,1797337,NM_000238.4(KCNH2):c.2894del (p.Gly965fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1797337,1797337,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947808:G:GC,KCNH2,VCV001795706,1795706,NM_000238.4(KCNH2):c.2762dup (p.Arg922fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1795706,1795706,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947819:TCGGCCCTGCCCCCGCC:T,KCNH2,VCV001795334,1795334,NM_000238.4(KCNH2):c.2736_2751del (p.Ala913fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1795334,1795334,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947836:C:CG,KCNH2,VCV001795320,1795320,NM_000238.4(KCNH2):c.2734dup (p.Arg912fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1795320,1795320,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947826:TGCCCCCGCCCGGCCCG:T,KCNH2,VCV001795256,1795256,NM_000238.4(KCNH2):c.2729_2744del (p.Pro910fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1795256,1795256,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948488:CG:C,KCNH2,VCV001794263,1794263,NM_000238.4(KCNH2):c.2647del (p.Arg883fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1794263,1794263,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948880:C:CA,KCNH2,VCV001793177,1793177,NM_000238.4(KCNH2):c.2567dup (p.Glu857fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1793177,1793177,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950189:C:CG,KCNH2,VCV001790360,1790360,NM_000238.4(KCNH2):c.2376dup (p.Asp793fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1790360,1790360,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974788:CG:A,KCNH2,VCV001789092,1789092,NM_000238.4(KCNH2):c.229_230delinsT (p.Arg77fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1789092,1789092,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950421:C:G,KCNH2,VCV001786650,1786650,NM_000238.4(KCNH2):c.2146-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1786650,1786650,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974746:TCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAG:T,KCNH2,VCV001785054,1785054,NM_000238.4(KCNH2):c.205_271del (p.Leu69fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1785054,1785054,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951106:TAGCAT:A,KCNH2,VCV001783287,1783287,NM_000238.4(KCNH2):c.1955_1960delinsT (p.Tyr652fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1783287,1783287,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951650:TG:T,KCNH2,VCV001779222,1779222,NM_000238.4(KCNH2):c.1742del (p.Ser581fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1779222,1779222,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951731:CAT:C,KCNH2,VCV001777473,1777473,NM_000238.4(KCNH2):c.1660_1661del (p.Met554fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1777473,1777473,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952596:C:CA,KCNH2,VCV001771379,1771379,NM_000238.4(KCNH2):c.1385dup (p.Met462fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1771379,1771379,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150957503:C:A,KCNH2,VCV001766052,1766052,NM_000238.4(KCNH2):c.917-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1766052,1766052,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958070:TGGCGCGGTGGCGG:T,KCNH2,VCV001765131,1765131,NM_000238.4(KCNH2):c.892_904del (p.Pro298fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1765131,1765131,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974931:G:C,KCNH2,VCV001764714,1764714,NM_000238.4(KCNH2):c.87C>G (p.Phe29Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1764714,1764714,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958047:CGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCT:C,KCNH2,VCV001762927,1762927,NM_000238.4(KCNH2):c.832_916+11del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1762927,1762927,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958239:C:CG,KCNH2,VCV001758500,1758500,NM_000238.4(KCNH2):c.735dup (p.Gly246fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1758500,1758500,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958417:G:GC,KCNH2,VCV001748411,1748411,NM_000238.4(KCNH2):c.557dup (p.Gly187fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1748411,1748411,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150959576:GGCCA:G,KCNH2,VCV001742104,1742104,NM_000238.4(KCNH2):c.464_467del (p.Leu155fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1742104,1742104,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150959582:C:T,KCNH2,VCV001742024,1742024,NM_000238.4(KCNH2):c.462G>A (p.Trp154Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1742024,1742024,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150959646:AT:A,KCNH2,VCV001736686,1736686,NM_000238.4(KCNH2):c.397del (p.Met133fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1736686,1736686,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947385:CGA:C,KCNH2,VCV001727478,1727478,NM_000238.4(KCNH2):c.3093_3094del (p.Arg1032fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1727478,1727478,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950163:C:T,KCNH2,VCV001713142,1713142,NM_000238.4(KCNH2):c.2398+5G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1713142,1713142,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958105:G:GGCCTC,KCNH2,VCV001711664,1711664,NM_000238.4(KCNH2):c.865_869dup (p.Met291fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1711664,1711664,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947667:C:CG,KCNH2,VCV001711663,1711663,NM_000238.4(KCNH2):c.2903dup (p.Gly970fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1711663,1711663,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950365:C:CGGCT,KCNH2,VCV001701539,1701539,NM_000238.4(KCNH2):c.2200_2201insAGCC (p.Arg734fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1701539,1701539,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951573:AT:A,KCNH2,VCV001698966,1698966,NM_000238.4(KCNH2):c.1819del (p.Ile607fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1698966,1698966,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974937:AC:A,KCNH2,VCV001683771,1683771,NM_000238.4(KCNH2):c.80del (p.Arg27fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1683771,1683771,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150959644:C:A,KCNH2,VCV001683770,1683770,NM_000238.4(KCNH2):c.400G>T (p.Glu134Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1683770,1683770,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951528:A:T,KCNH2,VCV001676088,1676088,NM_000238.4(KCNH2):c.1865T>A (p.Leu622His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1676088,1676088,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951789:ACGCGCACCAGCCGCAGCAGCCG:A,KCNH2,VCV001675096,1675096,NM_000238.4(KCNH2):c.1582_1603del (p.Arg528fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1675096,1675096,Short QT syndrome type 1;Long QT syndrome 2,Short QT syndrome type 1;Long QT syndrome 2,Short QT syndrome type 1;Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS|SQTS,assertion_condition_label,2,1.0,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+7:150947814:G:GCTACTCGGCCCTGCCCCCGCCCGGCC,KCNH2,VCV001527874,1527874,NM_000238.4(KCNH2):c.2731_2756dup (p.Ser919fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1527874,1527874,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952585:T:G,KCNH2,VCV001527873,1527873,NM_000238.4(KCNH2):c.1397A>C (p.Asp466Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1527873,1527873,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150977911:C:T,KCNH2,VCV001524546,1524546,NM_000238.4(KCNH2):c.3G>A (p.Met1Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1524546,1524546,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951121:C:G,KCNH2,VCV001521307,1521307,NM_000238.4(KCNH2):c.1946-1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1521307,1521307,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948959:AGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTG:A,KCNH2,VCV001499958,1499958,NM_000238.4(KCNH2):c.2399-108_2488del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1499958,1499958,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150957504:T:C,KCNH2,VCV001488212,1488212,NM_000238.4(KCNH2):c.917-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1488212,1488212,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951836:C:G,KCNH2,VCV001473108,1473108,NM_000238.4(KCNH2):c.1558-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1473108,1473108,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952693:G:T,KCNH2,VCV001467197,1467197,NM_000238.4(KCNH2):c.1289C>A (p.Ala430Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1467197,1467197,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974784:AGCGCGGCGCTGCGT:A,KCNH2,VCV001458718,1458718,NM_000238.4(KCNH2):c.220_233del (p.Thr74fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1458718,1458718,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150959621:C:CG,KCNH2,VCV001458716,1458716,NM_000238.4(KCNH2):c.422dup (p.Ala142fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1458716,1458716,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952677:CTCCTTCA:C,KCNH2,VCV001457690,1457690,NM_000238.4(KCNH2):c.1298_1304del (p.Leu433fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1457690,1457690,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950952:C:T,KCNH2,VCV001456278,1456278,NM_000238.4(KCNH2):c.2114G>A (p.Trp705Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1456278,1456278,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974807:C:CGTGCAGGAAGTCGCAG,KCNH2,VCV001456173,1456173,NM_000238.4(KCNH2):c.195_210dup (p.Gly71fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1456173,1456173,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150949012:A:T,KCNH2,VCV001455507,1455507,NM_000238.4(KCNH2):c.2436T>A (p.Tyr812Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1455507,1455507,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948451:CG:C,KCNH2,VCV001455493,1455493,NM_000238.4(KCNH2):c.2684del (p.Thr895fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1455493,1455493,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150959579:CA:C,KCNH2,VCV001453664,1453664,NM_000238.4(KCNH2):c.464del (p.Leu155fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1453664,1453664,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958153:TTCTCGGGAGCGCG:T,KCNH2,VCV001452777,1452777,NM_000238.4(KCNH2):c.809_821del (p.Thr270fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1452777,1452777,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950944:T:TGTAG,KCNH2,VCV001452601,1452601,NM_000238.4(KCNH2):c.2118_2121dup (p.Thr708fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1452601,1452601,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947392:G:GGC,KCNH2,VCV001452025,1452025,NM_000238.4(KCNH2):c.3086_3087dup (p.Pro1030fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1452025,1452025,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948910:AGG:A,KCNH2,VCV001439179,1439179,NM_000238.4(KCNH2):c.2536_2537del (p.Tyr845_Pro846insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1439179,1439179,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150945386:G:GT,KCNH2,VCV001434518,1434518,NM_000238.4(KCNH2):c.3458dup (p.His1153fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1434518,1434518,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951471:G:T,KCNH2,VCV001424837,1424837,NM_000238.4(KCNH2):c.1922C>A (p.Ser641Tyr),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1424837,1424837,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947440:GA:G,KCNH2,VCV001422891,1422891,NM_000238.4(KCNH2):c.3039del (p.Arg1014fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1422891,1422891,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947370:T:TCGCCC,KCNH2,VCV001414553,1414553,NM_000238.4(KCNH2):c.3105_3109dup (p.Asp1037fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1414553,1414553,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+7:150958169:CG:C,KCNH2,VCV001410227,1410227,NM_000238.4(KCNH2):c.805del (p.Arg269fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1410227,1410227,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948889:C:T,KCNH2,VCV001406991,1406991,NM_000238.4(KCNH2):c.2559G>A (p.Trp853Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1406991,1406991,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947629:C:CTGCTCTTCTCG,KCNH2,VCV001398420,1398420,NM_000238.4(KCNH2):c.2931_2941dup (p.Ser981fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1398420,1398420,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951763:C:CT,KCNH2,VCV001397577,1397577,NM_000238.4(KCNH2):c.1629dup (p.Glu544fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1397577,1397577,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+7:150959625:GA:G,KCNH2,VCV001338861,1338861,NM_000238.4(KCNH2):c.418del (p.Ser140fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1338861,1338861,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150977872:GA:G,KCNH2,VCV001335697,1335697,NM_000238.4(KCNH2):c.41del (p.Phe14fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1335697,1335697,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150957290:C:T,KCNH2,VCV001334904,1334904,NM_000238.4(KCNH2):c.1128+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1334904,1334904,Prolonged QT interval|Long QT syndrome,Prolonged QT interval|Long QT syndrome,Prolonged QT interval|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150977836:A:T,KCNH2,VCV001331098,1331098,NM_000238.4(KCNH2):c.76+2T>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,1331098,1331098,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id,,,,unanchored,0.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958185:TGGAGCCCGAGGCGTCG:T,KCNH2,VCV001323136,1323136,NM_000238.4(KCNH2):c.774_789del (p.Asp259fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1323136,1323136,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951685:C:A,KCNH2,VCV001284270,1284270,NM_000238.4(KCNH2):c.1708G>T (p.Ala570Ser),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1284270,1284270,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947796:CC:A,KCNH2,VCV001219815,1219815,NM_000238.4(KCNH2):c.2774_2775delinsT (p.Gly925fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1219815,1219815,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150957460:G:T,KCNH2,VCV001215035,1215035,NM_000238.4(KCNH2):c.959C>A (p.Ser320Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1215035,1215035,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951592:CG:C,KCNH2,VCV001213540,1213540,NM_000238.4(KCNH2):c.1800del (p.Ser600fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1213540,1213540,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150977836:A:AC,KCNH2,VCV001211558,1211558,NM_000238.4(KCNH2):c.76+1dup,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1211558,1211558,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958394:ACGGCCCCCGGGGCGCCCGCGCCGCCCGC:CCCGGT,KCNH2,VCV001202184,1202184,NM_000238.4(KCNH2):c.553_581delinsACCGGG (p.Ala185fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1202184,1202184,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950957:GT:G,KCNH2,VCV001201653,1201653,NM_000238.4(KCNH2):c.2108del (p.His703fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1201653,1201653,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947447:CT:C,KCNH2,VCV001191999,1191999,NM_000238.4(KCNH2):c.3032del (p.Glu1011fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1191999,1191999,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951535:T:C,KCNH2,VCV001189275,1189275,NM_000238.4(KCNH2):c.1858A>G (p.Ser620Gly),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1189275,1189275,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952557:G:T,KCNH2,VCV001178326,1178326,NM_000238.4(KCNH2):c.1425C>A (p.Tyr475Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1178326,1178326,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950421:C:T,KCNH2,VCV001163877,1163877,NM_000238.4(KCNH2):c.2146-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1163877,1163877,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947611:A:AG,KCNH2,VCV001098796,1098796,NM_000238.4(KCNH2):c.2959dup (p.Leu987fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1098796,1098796,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948450:C:CCGTG,KCNH2,VCV001076538,1076538,NM_000238.4(KCNH2):c.2682_2685dup (p.Asp896fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1076538,1076538,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150946951:G:GC,KCNH2,VCV001076264,1076264,NM_000238.4(KCNH2):c.3255dup (p.Pro1086fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1076264,1076264,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947371:CGCCCCGGG:C,KCNH2,VCV001074304,1074304,NM_000238.4(KCNH2):c.3101_3108del (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1074304,1074304,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947639:C:CGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCCTCCAG,KCNH2,VCV001073738,1073738,NM_000238.4(KCNH2):c.2931_2932insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu978fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1073738,1073738,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150957462:GGT:G,KCNH2,VCV001072804,1072804,NM_000238.4(KCNH2):c.955_956del (p.Thr319fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1072804,1072804,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948455:C:CGCCTG,KCNH2,VCV001072580,1072580,NM_000238.4(KCNH2):c.2676_2680dup (p.Arg894fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1072580,1072580,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947373:C:CCCCGGGGCCG,KCNH2,VCV001072040,1072040,NM_000238.4(KCNH2):c.3097_3106dup (p.Gly1036fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1072040,1072040,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951681:A:ATGGCG,KCNH2,VCV001070567,1070567,NM_000238.4(KCNH2):c.1707_1711dup (p.Ile571fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1070567,1070567,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947380:GCCGCCGACCCGGGC:G,KCNH2,VCV001070541,1070541,NM_000238.4(KCNH2):c.3086_3099del (p.Ser1029fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1070541,1070541,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974775:CTGCGCGGCAGCGCGGCGCTGCG:C,KCNH2,VCV001070208,1070208,NM_000238.4(KCNH2):c.221_242del (p.Thr74fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1070208,1070208,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958418:CCCGCGCCGCCCGA:C,KCNH2,VCV001069329,1069329,NM_000238.4(KCNH2):c.544_556del (p.Ser182fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1069329,1069329,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952509:GACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGT:G,KCNH2,VCV001069284,1069284,NM_000238.4(KCNH2):c.1420_1472del (p.Thr474fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1069284,1069284,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948892:GA:G,KCNH2,VCV001068978,1068978,NM_000238.4(KCNH2):c.2555del (p.Phe852fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1068978,1068978,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951565:T:C,KCNH2,VCV001066309,1066309,NM_000238.4(KCNH2):c.1828A>G (p.Lys610Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1066309,1066309,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150957276:CCGCTGGGCGC:GT,KCNH2,VCV001064627,1064627,NM_000238.4(KCNH2):c.1128+5_1128+15delinsAC,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1064627,1064627,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150949076:CT:C,KCNH2,VCV001064605,1064605,NM_000238.4(KCNH2):c.2399-28del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1064605,1064605,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951562:ACTTGTC:A,KCNH2,VCV001058879,1058879,NM_000238.4(KCNH2):c.1825_1830del (p.Asp609_Lys610del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1058879,1058879,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951496:T:G,KCNH2,VCV001001814,1001814,NM_000238.4(KCNH2):c.1897A>C (p.Asn633His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1001814,1001814,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947162:GGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCC:G,KCNH2,VCV000992792,992792,NM_000238.4(KCNH2):c.2692+167_3153-109del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,992792,992792,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948459:TG:T,KCNH2,VCV000983076,983076,NM_000238.4(KCNH2):c.2676del (p.Arg893fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,983076,983076,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951098:GA:G,KCNH2,VCV000979201,979201,NM_000238.4(KCNH2):c.1967del (p.Phe656fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,979201,979201,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950221:A:G,KCNH2,VCV000977169,977169,NM_000238.4(KCNH2):c.2345T>C (p.Ile782Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,977169,977169,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951484:C:A,KCNH2,VCV000977166,977166,NM_000238.4(KCNH2):c.1909G>T (p.Glu637Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,977166,977166,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952753:C:T,KCNH2,VCV000972695,972695,NM_000238.4(KCNH2):c.1229G>A (p.Trp410Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,972695,972695,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974872:C:A,KCNH2,VCV000972694,972694,NM_000238.4(KCNH2):c.146G>T (p.Cys49Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,972694,972694,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150957416:G:A,KCNH2,VCV000968402,968402,NM_000238.4(KCNH2):c.1003C>T (p.Gln335Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,968402,968402,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958161:AGC:A,KCNH2,VCV000960485,960485,NM_000238.4(KCNH2):c.812_813del (p.Arg271fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,960485,960485,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951646:T:TGC,KCNH2,VCV000958799,958799,NM_000238.4(KCNH2):c.1745_1746dup (p.Ile583fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,958799,958799,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150957391:AG:A,KCNH2,VCV000956361,956361,NM_000238.4(KCNH2):c.1027del (p.Leu343fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,956361,956361,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958266:GAC:G,KCNH2,VCV000955885,955885,NM_000238.4(KCNH2):c.707_708del (p.Gly236fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,955885,955885,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947800:C:CCCGG,KCNH2,VCV000949692,949692,NM_000238.4(KCNH2):c.2767_2770dup (p.Gly924fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,949692,949692,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947367:A:ACGTCG,KCNH2,VCV000947666,947666,NM_000238.4(KCNH2):c.3108_3112dup (p.Val1038fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,947666,947666,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947610:CA:C,KCNH2,VCV000943648,943648,NM_000238.4(KCNH2):c.2960del (p.Leu987fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,943648,943648,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951705:C:T,KCNH2,VCV000943351,943351,NM_000238.4(KCNH2):c.1688G>A (p.Trp563Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,943351,943351,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951097:CG:AA,KCNH2,VCV000943187,943187,NM_000238.4(KCNH2):c.1968_1969delinsTT (p.Gly657Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,MNV_or_substitution,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,943187,943187,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951076:GGATGATGGCCGACACGTTGCCGAA:G,KCNH2,VCV000941189,941189,NM_000238.4(KCNH2):c.1966_1989del (p.Phe656_Ile663del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,941189,941189,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952784:TG:T,KCNH2,VCV000939419,939419,NM_000238.4(KCNH2):c.1197del (p.Ile400fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,939419,939419,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948478:CTTGCG:C,KCNH2,VCV000937320,937320,NM_000238.4(KCNH2):c.2653_2657del (p.Arg885fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,937320,937320,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950279:CAT:C,KCNH2,VCV000937182,937182,NM_000238.4(KCNH2):c.2285_2286del (p.His762fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,937182,937182,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951117:AGGGCTGG:A,KCNH2,VCV000936138,936138,NM_000238.4(KCNH2):c.1946-4_1948del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,936138,936138,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958070:TG:T,KCNH2,VCV000934348,934348,NM_000238.4(KCNH2):c.904del (p.His302fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,934348,934348,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947373:CCCCGGGG:GCC,KCNH2,VCV000928528,928528,NM_000238.4(KCNH2):c.3100_3107delinsGGC (p.Pro1034fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,928528,928528,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947517:G:C,KCNH2,VCV000871784,871784,NM_000238.4(KCNH2):c.2966-3C>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,871784,871784,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974923:G:A,KCNH2,VCV000869439,869439,NM_000238.4(KCNH2):c.95C>T (p.Ala32Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,869439,869439,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951460:T:G,KCNH2,VCV000869431,869431,NM_000238.4(KCNH2):c.1933A>C (p.Met645Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,869431,869431,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974820:G:T,KCNH2,VCV000863419,863419,NM_000238.4(KCNH2):c.198C>A (p.Cys66Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,863419,863419,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150957305:C:CAG,KCNH2,VCV000858246,858246,NM_000238.4(KCNH2):c.1112_1113dup (p.Glu372fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,858246,858246,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974807:C:A,KCNH2,VCV000853484,853484,NM_000238.4(KCNH2):c.211G>T (p.Gly71Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,853484,853484,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951814:CA:C,KCNH2,VCV000851169,851169,NM_000238.4(KCNH2):c.1578del (p.Ala527fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,851169,851169,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958467:G:GC,KCNH2,VCV000850821,850821,NM_000238.4(KCNH2):c.507dup (p.Leu170fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,850821,850821,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948492:TGAAGCCACCC:T,KCNH2,VCV000846538,846538,NM_000238.4(KCNH2):c.2634_2643del (p.Gly879fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,846538,846538,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958194:AGGCGTCG:A,KCNH2,VCV000835590,835590,NM_000238.4(KCNH2):c.774_780del (p.Asp259fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,835590,835590,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150957316:TG:T,KCNH2,VCV000818076,818076,NM_000238.4(KCNH2):c.1102del (p.His368fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,818076,818076,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947784:C:CTCCCCCCA,KCNH2,VCV000817961,817961,NM_000238.4(KCNH2):c.2779_2786dup (p.Glu929fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,817961,817961,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947343:TGGAG:T,KCNH2,VCV000817602,817602,NM_000238.4(KCNH2):c.3133_3136del (p.Leu1045fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,817602,817602,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952564:G:A,KCNH2,VCV000811073,811073,NM_000238.4(KCNH2):c.1418C>T (p.Thr473Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,811073,811073,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952423:A:G,KCNH2,VCV000695023,695023,NM_000238.4(KCNH2):c.1557+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,695023,695023,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974767:TGCGCGATCTGCGCGGCAGC:T,KCNH2,VCV000692260,692260,NM_000238.4(KCNH2):c.232_250del (p.Ala78fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,692260,692260,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948519:C:CG,KCNH2,VCV000692259,692259,NM_000238.4(KCNH2):c.2616dup (p.Gly873fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,692259,692259,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947377:G:GGGGC,KCNH2,VCV000692257,692257,NM_000238.4(KCNH2):c.3099_3102dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,692257,692257,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951082:TG:T,KCNH2,VCV000667408,667408,NM_000238.4(KCNH2):c.1983del (p.Ile662fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,667408,667408,Congenital long QT syndrome|Long QT syndrome,Congenital long QT syndrome|Long QT syndrome,Congenital long QT syndrome|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948446:T:GTGTCG,KCNH2,VCV000663923,663923,NM_000238.4(KCNH2):c.2690delinsCGACAC (p.Lys897fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,663923,663923,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974871:GC:TT,KCNH2,VCV000663471,663471,NM_000238.4(KCNH2):c.146_147delinsAA (p.Cys49Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,663471,663471,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947039:C:CA,KCNH2,VCV000660047,660047,NM_000238.4(KCNH2):c.3167dup (p.Ser1057fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,660047,660047,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150946975:AGGCGGGC:A,KCNH2,VCV000657779,657779,NM_000238.4(KCNH2):c.3225_3231del (p.Pro1076fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,657779,657779,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952602:GT:G,KCNH2,VCV000652241,652241,NM_000238.4(KCNH2):c.1379del (p.Asp460fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,652241,652241,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951738:A:T,KCNH2,VCV000648088,648088,NM_000238.4(KCNH2):c.1655T>A (p.Leu552Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,648088,648088,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974933:AC:A,KCNH2,VCV000645394,645394,NM_000238.4(KCNH2):c.84del (p.Lys28fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,645394,645394,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974767:T:TGCGCGATCTGCGCGGCA,KCNH2,VCV000641517,641517,NM_000238.4(KCNH2):c.234_250dup (p.Gln84fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,641517,641517,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950308:GC:G,KCNH2,VCV000640022,640022,NM_000238.4(KCNH2):c.2257del (p.Ala753fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,640022,640022,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947371:C:CG,KCNH2,VCV000637977,637977,NM_000238.4(KCNH2):c.3108dup (p.Asp1037fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,637977,637977,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952842:CA:C,KCNH2,VCV000632866,632866,NM_000238.4(KCNH2):c.1139del (p.Leu380fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,632866,632866,Long QT syndrome|Long QT syndrome 2||Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2||Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2||Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951063:G:T,KCNH2,VCV000620172,620172,NM_000238.4(KCNH2):c.2003C>A (p.Ser668Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,620172,620172,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+7:150952634:G:A,KCNH2,VCV000620154,620154,NM_000238.4(KCNH2):c.1348C>T (p.Gln450Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,620154,620154,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951520:C:G,KCNH2,VCV000618184,618184,NM_000238.4(KCNH2):c.1873G>C (p.Val625Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,618184,618184,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947865:TG:T,KCNH2,VCV000598783,598783,NM_000238.4(KCNH2):c.2705del (p.Pro902fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,598783,598783,Long QT syndrome 2|Cardiovascular phenotype|Long QT syndrome,Long QT syndrome 2|Cardiovascular phenotype|Long QT syndrome,Long QT syndrome 2|Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958047:CGGCGCCCTCACCGGTGCT:C,KCNH2,VCV000582292,582292,NM_000238.4(KCNH2):c.910_916+11del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,582292,582292,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951638:C:G,KCNH2,VCV000581669,581669,NM_000238.4(KCNH2):c.1755G>C (p.Trp585Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,581669,581669,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150977836:ACT:A,KCNH2,VCV000579489,579489,NM_000238.4(KCNH2):c.76_76+1del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,579489,579489,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951702:A:T,KCNH2,VCV000572344,572344,NM_000238.4(KCNH2):c.1691T>A (p.Leu564Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,572344,572344,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947370:T:TCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGG,KCNH2,VCV000570715,570715,NM_000238.4(KCNH2):c.1129-831_3109dup,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,570715,570715,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951499:GAGAGACGTTG:CTTCA,KCNH2,VCV000570494,570494,NM_000238.4(KCNH2):c.1884_1894delinsTGAAG (p.Asn629_Pro632delinsGluAla),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,570494,570494,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947640:G:T,KCNH2,VCV000568003,568003,NM_000238.4(KCNH2):c.2931C>A (p.Cys977Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,568003,568003,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952848:CAG:C,KCNH2,VCV000565724,565724,NM_000238.4(KCNH2):c.1132_1133del (p.Leu378fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,565724,565724,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951545:G:C,KCNH2,VCV000560696,560696,NM_000238.4(KCNH2):c.1848C>G (p.Tyr616Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,560696,560696,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947391:GG:CGGGAGACCC,KCNH2,VCV000545950,545950,NM_000238.4(KCNH2):c.3088_3089delinsGGGTCTCCCG (p.Pro1030fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,545950,545950,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150959573:TG:T,KCNH2,VCV000526969,526969,NM_000238.4(KCNH2):c.470del (p.Pro157fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,526969,526969,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951704:C:T,KCNH2,VCV000526968,526968,NM_000238.4(KCNH2):c.1689G>A (p.Trp563Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,526968,526968,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947832:CGCCCG:C,KCNH2,VCV000526939,526939,NM_000238.4(KCNH2):c.2734_2738del (p.Arg912fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,526939,526939,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150977847:C:CA,KCNH2,VCV000526932,526932,NM_000238.4(KCNH2):c.66dup (p.Glu23Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,526932,526932,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958438:CGACGACTCCCGGGCCGTCAGCGCCA:C,KCNH2,VCV000526925,526925,NM_000238.4(KCNH2):c.512_536del (p.Leu171fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,526925,526925,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948478:C:CT,KCNH2,VCV000526908,526908,NM_000238.4(KCNH2):c.2657dup (p.Arg887fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,526908,526908,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958423:G:GCCGCCCGA,KCNH2,VCV000524038,524038,NM_000238.4(KCNH2):c.544_551dup (p.Ala185fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,524038,524038,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947372:G:GCCCCGGGGCCGCC,KCNH2,VCV000523953,523953,NM_000238.4(KCNH2):c.3095_3107dup (p.Asp1037fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,523953,523953,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150945390:CTG:C,KCNH2,VCV000523712,523712,NM_000238.4(KCNH2):c.3453_3454del (p.His1151fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,523712,523712,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958430:G:GACCGCACC,KCNH2,VCV000523697,523697,NM_000238.4(KCNH2):c.537_544dup (p.Ser182fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,523697,523697,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974926:A:T,KCNH2,VCV000520423,520423,NM_000238.4(KCNH2):c.92T>A (p.Ile31Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,520423,520423,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951772:GA:G,KCNH2,VCV000519551,519551,NM_000238.4(KCNH2):c.1620del (p.Arg541fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519551,519551,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947014:G:A,KCNH2,VCV000519524,519524,NM_000238.4(KCNH2):c.3193C>T (p.Gln1065Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519524,519524,Cardiovascular phenotype|Long QT syndrome|Short QT syndrome type 1;Long QT syndrome 2,Cardiovascular phenotype|Long QT syndrome|Short QT syndrome type 1;Long QT syndrome 2,Cardiovascular phenotype|Long QT syndrome|Short QT syndrome type 1;Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS|SQTS,assertion_condition_label,2,1.0,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+7:150947798:CCCCCGGCCGG:C,KCNH2,VCV000519509,519509,NM_000238.4(KCNH2):c.2763_2772del (p.Arg922fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519509,519509,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974856:G:C,KCNH2,VCV000519501,519501,NM_000238.4(KCNH2):c.162C>G (p.Tyr54Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519501,519501,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950329:GC:G,KCNH2,VCV000519473,519473,NM_000238.4(KCNH2):c.2236del (p.Ala746fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519473,519473,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952691:A:G,KCNH2,VCV000519399,519399,NM_000238.4(KCNH2):c.1291T>C (p.Phe431Leu),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519399,519399,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948449:TCCGTGCG:T,KCNH2,VCV000519378,519378,NM_000238.4(KCNH2):c.2680_2686del (p.Arg894fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519378,519378,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947386:G:GACCC,KCNH2,VCV000519348,519348,NM_000238.4(KCNH2):c.3090_3093dup (p.Arg1032fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519348,519348,Cardiovascular phenotype||Long QT syndrome,Cardiovascular phenotype||Long QT syndrome,Cardiovascular phenotype||Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951504:AC:A,KCNH2,VCV000519330,519330,NM_000238.4(KCNH2):c.1888del (p.Val630fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519330,519330,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958163:C:CT,KCNH2,VCV000519329,519329,NM_000238.4(KCNH2):c.811_812insA (p.Arg271fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519329,519329,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947377:GGGGCCGCCGACCC:G,KCNH2,VCV000519327,519327,NM_000238.4(KCNH2):c.3090_3102del (p.Arg1032fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519327,519327,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958167:TCCG:ACT,KCNH2,VCV000519255,519255,NM_000238.4(KCNH2):c.805_808delinsAGT (p.Arg269fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519255,519255,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958064:C:CTGGCG,KCNH2,VCV000519237,519237,NM_000238.4(KCNH2):c.906_910dup (p.Ser304fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519237,519237,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948996:ACTTGCCAGGC:A,KCNH2,VCV000519234,519234,NM_000238.4(KCNH2):c.2442_2451del (p.Arg814fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519234,519234,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150946876:C:T,KCNH2,VCV000519217,519217,NM_000238.4(KCNH2):c.3330+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519217,519217,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974710:CC:AA,KCNH2,VCV000519204,519204,NM_000238.4(KCNH2):c.307_307+1delinsTT,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519204,519204,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951537:AAGGTGAAGT:A,KCNH2,VCV000503778,503778,NM_000238.4(KCNH2):c.1847_1855del (p.Tyr616_Thr618del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,503778,503778,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974766:CTGCGCGATCTGCGCGGCAGCGCGGCGCTGCG:C,KCNH2,VCV000503735,503735,NM_000238.4(KCNH2):c.221_251del (p.Thr74fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,503735,503735,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950159:ACCCCATAC:A,KCNH2,VCV000503674,503674,NM_000238.4(KCNH2):c.2398+1_2398+8del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,503674,503674,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947373:CCCCGGGGCCGCCGA:C,KCNH2,VCV000503672,503672,NM_000238.4(KCNH2):c.3093_3106del (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,503672,503672,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947367:A:ACGTCGCC,KCNH2,VCV000503659,503659,NM_000238.4(KCNH2):c.3106_3112dup (p.Val1038fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,503659,503659,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947804:GC:G,KCNH2,VCV000495746,495746,NM_000238.4(KCNH2):c.2766del (p.Pro923fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,495746,495746,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951686:G:C,KCNH2,VCV000489342,489342,NM_000238.4(KCNH2):c.1707C>G (p.Tyr569Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,489342,489342,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974856:G:T,KCNH2,VCV000488895,488895,NM_000238.4(KCNH2):c.162C>A (p.Tyr54Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,488895,488895,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948510:C:A,KCNH2,VCV000488692,488692,NM_000238.4(KCNH2):c.2626G>T (p.Glu876Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,488692,488692,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150959583:C:T,KCNH2,VCV000456935,456935,NM_000238.4(KCNH2):c.461G>A (p.Trp154Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456935,456935,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947373:C:CCCCGGGG,KCNH2,VCV000456921,456921,NM_000238.4(KCNH2):c.3100_3106dup (p.Gly1036fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,456921,456921,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947381:C:CCG,KCNH2,VCV000456919,456919,NM_000238.4(KCNH2):c.3097_3098dup (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,456919,456919,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947383:G:GCCGAC,KCNH2,VCV000456918,456918,NM_000238.4(KCNH2):c.3092_3096dup (p.Arg1033fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,456918,456918,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950347:C:CA,KCNH2,VCV000456904,456904,NM_000238.4(KCNH2):c.2218dup (p.Cys740fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456904,456904,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950248:CCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGT:C,KCNH2,VCV000456903,456903,NM_000238.4(KCNH2):c.2180_2317del (p.Asp727_Ala772del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,456903,456903,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950421:CTG:TT,KCNH2,VCV000456902,456902,NM_000238.4(KCNH2):c.2146-3_2146-1delinsAA,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456902,456902,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951004:G:A,KCNH2,VCV000456901,456901,NM_000238.4(KCNH2):c.2062C>T (p.Gln688Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456901,456901,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952646:C:CA,KCNH2,VCV000456886,456886,NM_000238.4(KCNH2):c.1335dup (p.Gly446fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,456886,456886,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150957296:TGA:T,KCNH2,VCV000456876,456876,NM_000238.4(KCNH2):c.1121_1122del (p.Val374fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456876,456876,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947005:G:A,KCNH2,VCV000446417,446417,NM_000238.4(KCNH2):c.3202C>T (p.Gln1068Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,446417,446417,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952424:C:G,KCNH2,VCV000439845,439845,NM_000238.4(KCNH2):c.1557+1G>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,439845,439845,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947389:C:CCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCA,KCNH2,VCV000431374,431374,NM_000238.4(KCNH2):c.2906_3089dup (p.Gly989_Ala990insIleProGlyAspGlyArgAlaArgGluAspArgAlaTrpGlnArgTrpCysValTyrProAlaHisProAlaLeuLeuSerGlyCysArgArgLeuLeuArgSerValGlnHisPheGlnLeuLeuGlyGlyGlnSerGlyProProValProGlyAlaProSerMetProArgProHisProGlnProProGlnHisProProLeuGlnProValGlySerProTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,431374,431374,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947631:GCTCTT:G,KCNH2,VCV000431036,431036,NM_000238.4(KCNH2):c.2935_2939del (p.Lys979fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,431036,431036,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948456:G:GCCTGC,KCNH2,VCV000430730,430730,NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,430730,430730,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951114:A:C,KCNH2,VCV000427945,427945,NM_000238.4(KCNH2):c.1952T>G (p.Met651Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,427945,427945,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951027:AC:A,KCNH2,VCV000427944,427944,NM_000238.4(KCNH2):c.2038del (p.Val680fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,427944,427944,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951096:C:A,KCNH2,VCV000427076,427076,NM_000238.4(KCNH2):c.1970G>T (p.Gly657Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,427076,427076,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150958306:TGCCA:G,KCNH2,VCV000426429,426429,NM_000238.4(KCNH2):c.665_669delinsC (p.Val222fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,426429,426429,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951473:G:C,KCNH2,VCV000423753,423753,NM_000238.4(KCNH2):c.1920C>G (p.Phe640Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,423753,423753,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950937:CCG:C,KCNH2,VCV000423696,423696,NM_000238.4(KCNH2):c.2127_2128del (p.Asn709fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,423696,423696,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947419:T:TG,KCNH2,VCV000423015,423015,NM_000238.4(KCNH2):c.3060dup (p.Ser1021fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,423015,423015,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947683:GG:T,KCNH2,VCV000421672,421672,NM_000238.4(KCNH2):c.2887_2888delinsA (p.Pro963fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,421672,421672,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950983:G:A,KCNH2,VCV000420923,420923,NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,420923,420923,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947367:ACGTCGCCCCGGGGC:A,KCNH2,VCV000420585,420585,NM_000238.4(KCNH2):c.3099_3112del (p.Pro1034fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,420585,420585,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+7:150959706:A:ACCACATC,KCNH2,VCV000420260,420260,NM_000238.4(KCNH2):c.331_337dup (p.Val113fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,420260,420260,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951509:GC:G,KCNH2,VCV000419410,419410,NM_000238.4(KCNH2):c.1883del (p.Gly628fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,419410,419410,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150952468:GC:G,KCNH2,VCV000419379,419379,NM_000238.4(KCNH2):c.1513del (p.Ala505fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,419379,419379,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951667:G:A,KCNH2,VCV000419311,419311,NM_000238.4(KCNH2):c.1726C>T (p.Gln576Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,419311,419311,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150957370:GC:G,KCNH2,VCV000418919,418919,NM_000238.4(KCNH2):c.1048del (p.Ala350fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418919,418919,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947618:T:TG,KCNH2,VCV000418815,418815,NM_000238.4(KCNH2):c.2952dup (p.Asn985fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418815,418815,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948977:GC:G,KCNH2,VCV000418787,418787,NM_000238.4(KCNH2):c.2470del (p.Ala824fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418787,418787,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150959587:TGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCA:T,KCNH2,VCV000418670,418670,NM_000238.4(KCNH2):c.395_456del (p.Val132fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418670,418670,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974854:G:T,KCNH2,VCV000418597,418597,NM_000238.4(KCNH2):c.164C>A (p.Ser55Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,418597,418597,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947370:T:TCGCCCCGGGGC,KCNH2,VCV000405358,405358,NM_000238.4(KCNH2):c.3099_3109dup (p.Asp1037fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,405358,405358,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150959641:TC:T,KCNH2,VCV000405355,405355,NM_000238.4(KCNH2):c.402del (p.Lys135fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405355,405355,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951065:G:GT,KCNH2,VCV000405345,405345,NM_000238.4(KCNH2):c.2000dup (p.Tyr667Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405345,405345,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950200:A:ATC,KCNH2,VCV000405342,405342,NM_000238.4(KCNH2):c.2364_2365dup (p.Ile789fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405342,405342,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951542:G:T,KCNH2,VCV000392690,392690,NM_000238.4(KCNH2):c.1851C>A (p.Phe617Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,392690,392690,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951464:G:T,KCNH2,VCV000392341,392341,NM_000238.4(KCNH2):c.1929C>A (p.Cys643Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,392341,392341,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150951678:C:G,KCNH2,VCV000391858,391858,NM_000238.4(KCNH2):c.1715G>C (p.Gly572Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,391858,391858,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150948439:C:A,KCNH2,VCV000387850,387850,NM_000238.4(KCNH2):c.2692+5G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,387850,387850,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150959738:T:C,KCNH2,VCV000379451,379451,NM_000238.4(KCNH2):c.308-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,379451,379451,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947453:G:C,KCNH2,VCV000379293,379293,NM_000238.4(KCNH2):c.3027C>G (p.Tyr1009Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,379293,379293,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947006:T:TA,KCNH2,VCV000372942,372942,NM_000238.4(KCNH2):c.3200dup (p.Gln1068fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,372942,372942,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150974897:C:G,KCNH2,VCV000372589,372589,NM_000238.4(KCNH2):c.121G>C (p.Val41Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,372589,372589,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947372:G:GCC,KCNH2,VCV000372571,372571,NM_000238.4(KCNH2):c.3106_3107dup (p.Asp1037fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,372571,372571,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150947380:GC:G,KCNH2,VCV000372378,372378,NM_000238.4(KCNH2):c.3099del (p.Arg1035fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,372378,372378,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:150950167:C:A,KCNH2,VCV000372377,372377,NM_000238.4(KCNH2):c.2398+1G>T,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,372377,372377,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+3:38557241:T:C,SCN5A,VCV004814196,4814196,NM_000335.5(SCN5A):c.4286A>G (p.Asp1429Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4814196,4814196,SCN5A-related disorder,SCN5A-related disorder,SCN5A-related disorder,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38556563:G:A,SCN5A,VCV004814157,4814157,NM_000335.5(SCN5A):c.4312C>T (p.Gln1438Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4814157,4814157,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38555679:GGGGCTTCTT:G,SCN5A,VCV004814013,4814013,NM_000335.5(SCN5A):c.4507_4515del (p.Lys1503_Pro1505del),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4814013,4814013,Branchiootic syndrome 1,Branchiootic syndrome 1,Branchiootic syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38603729:C:A,SCN5A,VCV004757059,4757059,NM_000335.5(SCN5A):c.1873G>T (p.Glu625Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4757059,4757059,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38551453:GC:G,SCN5A,VCV004733790,4733790,NM_000335.5(SCN5A):c.4915del (p.Ala1639fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4733790,4733790,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38630345:TG:T,SCN5A,VCV004731428,4731428,NM_000335.5(SCN5A):c.357del (p.Ile120fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4731428,4731428,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38630309:A:G,SCN5A,VCV004730817,4730817,NM_000335.5(SCN5A):c.392+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4730817,4730817,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38581324:GT:G,SCN5A,VCV004727300,4727300,NM_000335.5(SCN5A):c.2834del (p.Asp945fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4727300,4727300,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38587440:GA:G,SCN5A,VCV004723344,4723344,NM_000335.5(SCN5A):c.2395del (p.Ser799fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4723344,4723344,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38603889:AC:A,SCN5A,VCV004722126,4722126,NM_000335.5(SCN5A):c.1712del (p.Ser571fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4722126,4722126,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38550953:G:A,SCN5A,VCV004721301,4721301,NM_000335.5(SCN5A):c.5416C>T (p.Gln1806Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4721301,4721301,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38613801:GAC:G,SCN5A,VCV004720439,4720439,NM_000335.5(SCN5A):c.643_644del (p.Val215fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4720439,4720439,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38581225:C:T,SCN5A,VCV004717480,4717480,NM_000335.5(SCN5A):c.2934G>A (p.Trp978Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4717480,4717480,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38557283:GC:G,SCN5A,VCV004716661,4716661,NM_001099405.2(SCN5A):c.4246-706del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4716661,4716661,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38597930:C:T,SCN5A,VCV004716468,4716468,NM_000335.5(SCN5A):c.2061G>A (p.Trp687Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4716468,4716468,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38557236:TG:T,SCN5A,VCV004714862,4714862,NM_000335.5(SCN5A):c.4290del (p.Arg1431fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4714862,4714862,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38576755:GC:G,SCN5A,VCV004712144,4712144,NM_000335.5(SCN5A):c.3413del (p.Gly1138fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4712144,4712144,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38556493:A:T,SCN5A,VCV004681217,4681217,NM_000335.5(SCN5A):c.4382T>A (p.Leu1461Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4681217,4681217,Brugada syndrome 1|Cardiac arrhythmia,Brugada syndrome 1|Cardiac arrhythmia,Brugada syndrome 1|Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38562538:C:G,SCN5A,VCV004614942,4614942,NM_000335.5(SCN5A):c.3838-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4614942,4614942,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38608150:C:G,SCN5A,VCV004614940,4614940,NM_000335.5(SCN5A):c.998+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4614940,4614940,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38599038:C:A,SCN5A,VCV004614936,4614936,NM_000335.5(SCN5A):c.1903G>T (p.Glu635Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4614936,4614936,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38613756:T:TA,SCN5A,VCV004537605,4537605,NM_000335.5(SCN5A):c.689dup (p.Ser231fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4537605,4537605,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38556576:A:C,SCN5A,VCV004536358,4536358,NM_000335.5(SCN5A):c.4299T>G (p.Tyr1433Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4536358,4536358,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38606140:C:A,SCN5A,VCV004531893,4531893,NM_000335.5(SCN5A):c.1149G>T (p.Arg383Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4531893,4531893,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38597749:TCTC:T,SCN5A,VCV004530664,4530664,NM_000335.5(SCN5A):c.2236GAG[1] (p.Glu747del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4530664,4530664,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38585841:C:T,SCN5A,VCV004526988,4526988,NM_000335.5(SCN5A):c.2637G>A (p.Trp879Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4526988,4526988,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38620842:C:A,SCN5A,VCV004160653,4160653,NM_000335.5(SCN5A):c.611+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4160653,4160653,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38609896:CTG:C,SCN5A,VCV004160651,4160651,NM_000335.5(SCN5A):c.770_771del (p.Thr257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4160651,4160651,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38585897:A:AG,SCN5A,VCV004084973,4084973,NM_000335.5(SCN5A):c.2580dup (p.Phe861fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4084973,4084973,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38550472:G:A,SCN5A,VCV004082128,4082128,NM_000335.5(SCN5A):c.5897C>T (p.Ser1966Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4082128,4082128,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38606687:C:G,SCN5A,VCV004071999,4071999,NM_000335.5(SCN5A):c.1122G>C (p.Trp374Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4071999,4071999,Sick sinus syndrome 1,Sick sinus syndrome 1,Sick sinus syndrome 1,variation_id,,,,representation_repairable,0.45,conduction,assertion_condition_label,1,-0.0,conduction,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38560422:C:A,SCN5A,VCV003898691,3898691,NM_000335.5(SCN5A):c.3967G>T (p.Val1323Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3898691,3898691,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38551118:AG:A,SCN5A,VCV003895188,3895188,NM_000335.5(SCN5A):c.5250del (p.Phe1751fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3895188,3895188,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38550902:GC:G,SCN5A,VCV003894898,3894898,NM_000335.5(SCN5A):c.5466del (p.Glu1822fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894898,3894898,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38606698:G:A,SCN5A,VCV003894008,3894008,NM_000335.5(SCN5A):c.1111C>T (p.Gln371Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3894008,3894008,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38556500:A:AG,SCN5A,VCV003893711,3893711,NM_000335.5(SCN5A):c.4374dup (p.Phe1459fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3893711,3893711,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38620885:CG:C,SCN5A,VCV003793221,3793221,NM_000335.5(SCN5A):c.568del (p.Arg190fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3793221,3793221,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38576677:CT:A,SCN5A,VCV003793218,3793218,NM_000335.5(SCN5A):c.3491_3492delinsT (p.Glu1164fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3793218,3793218,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38606773:C:A,SCN5A,VCV003778738,3778738,NM_000335.5(SCN5A):c.1036G>T (p.Glu346Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3778738,3778738,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38585783:A:ACTCTC,SCN5A,VCV003773853,3773853,NM_000335.5(SCN5A):c.2690_2694dup (p.Trp899fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3773853,3773853,SCN5A-related disorder,SCN5A-related disorder,SCN5A-related disorder,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38560424:AC:A,SCN5A,VCV003772281,3772281,NM_000335.5(SCN5A):c.3964del (p.Val1322fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3772281,3772281,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38581355:AG:A,SCN5A,VCV003766453,3766453,NM_000335.5(SCN5A):c.2803del (p.Leu935fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3766453,3766453,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38604795:T:TGA,SCN5A,VCV003730868,3730868,NM_000335.5(SCN5A):c.1450_1451dup (p.Gly485fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3730868,3730868,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38580981:C:A,SCN5A,VCV003729291,3729291,NM_000335.5(SCN5A):c.3178G>T (p.Glu1060Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3729291,3729291,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38555654:A:G,SCN5A,VCV003727847,3727847,NM_000335.5(SCN5A):c.4539+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3727847,3727847,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38551375:A:AG,SCN5A,VCV003723601,3723601,NM_000335.5(SCN5A):c.4993dup (p.Leu1665fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3723601,3723601,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38613831:G:C,SCN5A,VCV003723452,3723452,NM_000335.5(SCN5A):c.615C>G (p.Tyr205Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3723452,3723452,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38620958:C:CG,SCN5A,VCV003722844,3722844,NM_000335.5(SCN5A):c.495dup (p.Ala166fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3722844,3722844,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38562511:G:GT,SCN5A,VCV003722003,3722003,NM_000335.5(SCN5A):c.3863dup (p.Asn1288fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3722003,3722003,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38604029:TG:T,SCN5A,VCV003721680,3721680,NM_000335.5(SCN5A):c.1572del (p.Ser525fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3721680,3721680,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38556558:C:T,SCN5A,VCV003720482,3720482,NM_000335.5(SCN5A):c.4317G>A (p.Trp1439Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3720482,3720482,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38579495:G:A,SCN5A,VCV003699241,3699241,NM_001099404.2(SCN5A):c.3229C>T (p.Gln1077Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3699241,3699241,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38622468:CAT:C,SCN5A,VCV003668098,3668098,NM_000335.5(SCN5A):c.412_413del (p.Met138fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3668098,3668098,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38551233:C:T,SCN5A,VCV003663041,3663041,NM_000335.5(SCN5A):c.5136G>A (p.Trp1712Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3663041,3663041,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38562461:CG:C,SCN5A,VCV003662552,3662552,NM_000335.5(SCN5A):c.3913del (p.Arg1305fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3662552,3662552,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38576745:CT:C,SCN5A,VCV003661184,3661184,NM_000335.5(SCN5A):c.3423del (p.Asp1142fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3661184,3661184,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38550653:CCATGGCCGACACCTCTTCGTGCTTGCGCCGGAGTGTGGTGGTGATGGGCTCGTAGGAGATCTTGGATGGGTTGGCTGCCATGAACTTCTCCTCCATCTGGATCTTCAGGGCGTCCATCTCCCCAGACTCCCCCAGGACCCTTTTGGTGAAGGCAAAGAGAATGTCCATGCAATGGATGCGGTCCCCACTCACCATGGGCAGGTCCATGTTGATGAGGCTTATCTGGTTGGGCTTGGCGATACGGAGTGGCTCAGACAGGGCATCGGCAAAGTCAGACAGGACCGAATACTCAATAAACTGAGTGGCCTCTGGGTCAAATTTCTCCCAGATCTCATAGAACATATCGAAGTCGTCCTCACTCAGGGGCTCGGTGCTCTCCTCCGTGGCCACGCTGAAGTTCTCCAGGATGATGGCAATGTACATGTTGACCACGATGAGGAAGGAGATGATGATGTAGGTGGTGAAGAAGAGGATGCCCACGGCTGGGCTCCCGCAGTCCCCCCGAGAGCCATTGCTGTTGGGCAGAGTGGGGTCGCAGTAGGGCGGCCCAGTGTTGAGGATGGGG:C,SCN5A,VCV003660495,3660495,NM_000335.5(SCN5A):c.5151_5715del (p.Ser1717fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3660495,3660495,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38550980:A:AT,SCN5A,VCV003653975,3653975,NM_000335.5(SCN5A):c.5388_5389insA (p.Trp1797fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3653975,3653975,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38633076:C:A,SCN5A,VCV003649069,3649069,NM_000335.5(SCN5A):c.232G>T (p.Glu78Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3649069,3649069,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38550851:G:GC,SCN5A,VCV003645763,3645763,NM_000335.5(SCN5A):c.5517dup (p.Pro1840fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3645763,3645763,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38587574:C:G,SCN5A,VCV003644710,3644710,NM_000335.5(SCN5A):c.2263-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3644710,3644710,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38551094:A:AGGAGATGATGATGTAGGTGGTGAAGAAGAGGAGAT,SCN5A,VCV003642736,3642736,NM_000335.5(SCN5A):c.5274_5275insATCTCCTCTTCTTCACCACCTACATCATCATCTCC (p.Phe1759fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3642736,3642736,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38633069:AG:A,SCN5A,VCV003639026,3639026,NM_000335.5(SCN5A):c.238del (p.Leu80fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3639026,3639026,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38587399:C:G,SCN5A,VCV003633347,3633347,NM_000335.5(SCN5A):c.2436+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3633347,3633347,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38556531:A:C,SCN5A,VCV003600631,3600631,NM_000335.5(SCN5A):c.4344T>G (p.Tyr1448Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3600631,3600631,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38554311:A:C,SCN5A,VCV003544406,3544406,NM_000335.5(SCN5A):c.4778T>G (p.Phe1593Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3544406,3544406,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38604025:CG:C,SCN5A,VCV003438263,3438263,NM_000335.5(SCN5A):c.1576del (p.Arg526fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3438263,3438263,Cardiovascular phenotype|Brugada syndrome 1,Cardiovascular phenotype|Brugada syndrome 1,Cardiovascular phenotype|Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38587400:C:CAGGCG,SCN5A,VCV003385944,3385944,NM_000335.5(SCN5A):c.2431_2435dup (p.Leu813fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3385944,3385944,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38560288:CTCTG:C,SCN5A,VCV003385918,3385918,NM_000335.5(SCN5A):c.4097_4100del (p.Thr1366fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3385918,3385918,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38566505:A:C,SCN5A,VCV003383167,3383167,NM_000335.5(SCN5A):c.3741T>G (p.Tyr1247Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3383167,3383167,8 conditions,8 conditions,8 conditions,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38581086:C:A,SCN5A,VCV003381870,3381870,NM_000335.5(SCN5A):c.3073G>T (p.Glu1025Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3381870,3381870,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38606082:A:G,SCN5A,VCV003376929,3376929,NM_000335.5(SCN5A):c.1207T>C (p.Tyr403His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3376929,3376929,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38603774:CT:C,SCN5A,VCV003367173,3367173,NM_000335.5(SCN5A):c.1827del (p.Glu610fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3367173,3367173,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38598975:GC:G,SCN5A,VCV003345326,3345326,NM_000335.5(SCN5A):c.1965del (p.Glu655fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3345326,3345326,SCN5A-related disorder,SCN5A-related disorder,SCN5A-related disorder,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38598917:C:A,SCN5A,VCV003337556,3337556,NM_000335.5(SCN5A):c.2023+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3337556,3337556,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38566583:C:G,SCN5A,VCV003337555,3337555,NM_000335.5(SCN5A):c.3664-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3337555,3337555,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38557236:T:A,SCN5A,VCV003337551,3337551,NM_000335.5(SCN5A):c.4291A>T (p.Arg1431Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3337551,3337551,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38606784:A:AG,SCN5A,VCV003316598,3316598,NM_000335.5(SCN5A):c.1024dup (p.Leu342fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3316598,3316598,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38576776:TG:T,SCN5A,VCV003316597,3316597,NM_000335.5(SCN5A):c.3392del (p.Pro1131fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3316597,3316597,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38585883:G:C,SCN5A,VCV003316593,3316593,NM_000335.5(SCN5A):c.2595C>G (p.Tyr865Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3316593,3316593,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38620967:TG:T,SCN5A,VCV003252620,3252620,NM_000335.5(SCN5A):c.486del (p.Glu161_Tyr162insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3252620,3252620,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38587409:GGA:G,SCN5A,VCV003252218,3252218,NM_000335.5(SCN5A):c.2425_2426del (p.Ser809fs),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3252218,3252218,8 conditions,8 conditions,8 conditions,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38575395:CCTTCCCTGGG:C,SCN5A,VCV003251141,3251141,NM_000335.5(SCN5A):c.3555_3564del (p.Pro1186fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3251141,3251141,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38613752:CTG:C,SCN5A,VCV003251122,3251122,NM_000335.5(SCN5A):c.692_693del (p.Ser231fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3251122,3251122,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38598963:G:A,SCN5A,VCV003248566,3248566,NM_000335.5(SCN5A):c.1978C>T (p.Gln660Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3248566,3248566,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38604050:TC:T,SCN5A,VCV003238947,3238947,NM_000335.5(SCN5A):c.1551del (p.Thr518fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3238947,3238947,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38585930:CGAT:C,SCN5A,VCV003236392,3236392,NM_000335.5(SCN5A):c.2542ATC[1] (p.Ile849del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3236392,3236392,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38599037:T:TC,SCN5A,VCV003229479,3229479,NM_000335.5(SCN5A):c.1903dup (p.Glu635fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3229479,3229479,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38581204:CA:C,SCN5A,VCV003076028,3076028,NM_000335.5(SCN5A):c.2954del (p.Leu985fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3076028,3076028,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38581186:CTT:C,SCN5A,VCV003075937,3075937,NM_000335.5(SCN5A):c.2971_2972del (p.Lys991fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3075937,3075937,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38550979:C:T,SCN5A,VCV003075757,3075757,NM_000335.5(SCN5A):c.5390G>A (p.Trp1797Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3075757,3075757,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38556481:AT:A,SCN5A,VCV003075755,3075755,NM_000335.5(SCN5A):c.4393del (p.Ile1465fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,3075755,3075755,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,unanchored,0.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38580951:C:A,SCN5A,VCV003075752,3075752,NM_000335.5(SCN5A):c.3208G>T (p.Glu1070Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3075752,3075752,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38579447:TG:T,SCN5A,VCV003074416,3074416,NM_000335.5(SCN5A):c.3273del (p.Arg1092fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3074416,3074416,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38597824:T:TG,SCN5A,VCV003073663,3073663,NM_000335.5(SCN5A):c.2166dup (p.Ile723fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3073663,3073663,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38603902:AG:A,SCN5A,VCV003073053,3073053,NM_000335.5(SCN5A):c.1699del (p.Leu567fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3073053,3073053,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38554469:AT:A,SCN5A,VCV003071701,3071701,NM_000335.5(SCN5A):c.4619del (p.Asn1540fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3071701,3071701,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38560421:A:C,SCN5A,VCV003067128,3067128,NM_000335.5(SCN5A):c.3968T>G (p.Val1323Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3067128,3067128,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38556461:A:T,SCN5A,VCV003062283,3062283,NM_000335.5(SCN5A):c.4414T>A (p.Phe1472Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3062283,3062283,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38603710:A:C,SCN5A,VCV003027437,3027437,NM_000335.5(SCN5A):c.1890+2T>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3027437,3027437,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38606054:AC:A,SCN5A,VCV003024479,3024479,NM_000335.5(SCN5A):c.1234del (p.Val412fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3024479,3024479,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38581031:TC:T,SCN5A,VCV003001404,3001404,NM_000335.5(SCN5A):c.3127del (p.Glu1043fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3001404,3001404,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38606764:CG:C,SCN5A,VCV002910170,2910170,NM_000335.5(SCN5A):c.1044del (p.Asp349fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2910170,2910170,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38630309:A:C,SCN5A,VCV002862415,2862415,NM_000335.5(SCN5A):c.392+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2862415,2862415,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38581134:A:AG,SCN5A,VCV002861983,2861983,NM_000335.5(SCN5A):c.3024dup (p.Tyr1009fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2861983,2861983,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38579367:C:T,SCN5A,VCV002850091,2850091,NM_000335.5(SCN5A):c.3354G>A (p.Trp1118Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2850091,2850091,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38581152:TG:T,SCN5A,VCV002846167,2846167,NM_000335.5(SCN5A):c.3006del (p.Ser1003fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2846167,2846167,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38550951:C:CT,SCN5A,VCV002834047,2834047,NM_000335.5(SCN5A):c.5417dup (p.Phe1807fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2834047,2834047,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38586042:C:G,SCN5A,VCV002831276,2831276,NM_000335.5(SCN5A):c.2437-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2831276,2831276,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38622423:AG:A,SCN5A,VCV002829409,2829409,NM_000335.5(SCN5A):c.458del (p.Pro153fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2829409,2829409,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38551299:CAT:C,SCN5A,VCV002820677,2820677,NM_000335.5(SCN5A):c.5068_5069del (p.Met1690fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2820677,2820677,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38566552:T:A,SCN5A,VCV002818735,2818735,NM_000335.5(SCN5A):c.3694A>T (p.Lys1232Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2818735,2818735,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38555657:A:AG,SCN5A,VCV002817837,2817837,NM_000335.5(SCN5A):c.4537dup (p.Leu1513fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2817837,2817837,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38587499:CT:C,SCN5A,VCV002798618,2798618,NM_000335.5(SCN5A):c.2336del (p.Gln779fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2798618,2798618,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38604785:C:A,SCN5A,VCV002774482,2774482,NM_000335.5(SCN5A):c.1462G>T (p.Glu488Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2774482,2774482,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38604761:TGGGG:CAGA,SCN5A,VCV002774480,2774480,NM_000335.5(SCN5A):c.1482_1486delinsTCTG (p.Pro495fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2774480,2774480,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38581002:C:A,SCN5A,VCV002774462,2774462,NM_000335.5(SCN5A):c.3157G>T (p.Glu1053Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2774462,2774462,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38576660:C:A,SCN5A,VCV002774456,2774456,NM_000335.5(SCN5A):c.3508+1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2774456,2774456,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38556549:GT:G,SCN5A,VCV002774447,2774447,NM_000335.5(SCN5A):c.4325del (p.Asn1442fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2774447,2774447,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38581271:AG:A,SCN5A,VCV002767841,2767841,NM_000335.5(SCN5A):c.2887del (p.Leu963fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2767841,2767841,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38622407:AC:A,SCN5A,VCV002767035,2767035,NM_000335.5(SCN5A):c.474del (p.Lys158fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2767035,2767035,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38585881:G:T,SCN5A,VCV002764562,2764562,NM_000335.5(SCN5A):c.2597C>A (p.Ser866Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2764562,2764562,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38576660:C:G,SCN5A,VCV002764009,2764009,NM_000335.5(SCN5A):c.3508+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2764009,2764009,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38606062:CAG:C,SCN5A,VCV002754673,2754673,NM_000335.5(SCN5A):c.1225_1226del (p.Leu409fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2754673,2754673,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38554540:G:A,SCN5A,VCV002750658,2750658,NM_000335.5(SCN5A):c.4549C>T (p.Gln1517Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2750658,2750658,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38576675:TC:T,SCN5A,VCV002749678,2749678,NM_000335.5(SCN5A):c.3493del (p.Asp1165fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2749678,2749678,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38566430:C:T,SCN5A,VCV002739542,2739542,NM_000335.5(SCN5A):c.3816G>A (p.Trp1272Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2739542,2739542,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38581041:CG:C,SCN5A,VCV002733575,2733575,NM_000335.5(SCN5A):c.3117del (p.Asp1041fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2733575,2733575,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38609952:A:G,SCN5A,VCV002728351,2728351,NM_000335.5(SCN5A):c.716T>C (p.Ile239Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2728351,2728351,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38606750:G:GGTGTAGCC,SCN5A,VCV002719420,2719420,NM_000335.5(SCN5A):c.1051_1058dup (p.Ser354fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2719420,2719420,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38551073:AC:A,SCN5A,VCV002713386,2713386,NM_000335.5(SCN5A):c.5295del (p.Met1765fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2713386,2713386,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38557256:A:AT,SCN5A,VCV002708294,2708294,NM_000335.5(SCN5A):c.4270dup (p.Met1424fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2708294,2708294,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38566436:C:T,SCN5A,VCV002705691,2705691,NM_000335.5(SCN5A):c.3810G>A (p.Trp1270Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2705691,2705691,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38599043:GGCGT:G,SCN5A,VCV002587163,2587163,NM_000335.5(SCN5A):c.1894_1897del (p.Thr632fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2587163,2587163,Cardiovascular phenotype||Brugada syndrome,Cardiovascular phenotype||Brugada syndrome,Cardiovascular phenotype||Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38585801:G:T,SCN5A,VCV002582527,2582527,NM_000335.5(SCN5A):c.2677C>A (p.Arg893Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2582527,2582527,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38620950:G:T,SCN5A,VCV002574114,2574114,NM_000335.5(SCN5A):c.504C>A (p.Tyr168Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2574114,2574114,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38576782:C:G,SCN5A,VCV002574113,2574113,NM_000335.5(SCN5A):c.3388-1G>C,Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2574113,2574113,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38576710:GA:G,SCN5A,VCV002567176,2567176,NM_000335.5(SCN5A):c.3458del (p.Ile1153fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2567176,2567176,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38597909:G:T,SCN5A,VCV002567171,2567171,NM_000335.5(SCN5A):c.2082C>A (p.Tyr694Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2567171,2567171,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38560146:C:A,SCN5A,VCV002567167,2567167,NM_000335.5(SCN5A):c.4242+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2567167,2567167,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38560208:C:T,SCN5A,VCV002506126,2506126,NM_000335.5(SCN5A):c.4181G>A (p.Trp1394Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2506126,2506126,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38620925:G:GA,SCN5A,VCV002505150,2505150,NM_000335.5(SCN5A):c.528dup (p.Leu177fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2505150,2505150,Primary dilated cardiomyopathy,Primary dilated cardiomyopathy,Primary dilated cardiomyopathy,variation_id,,,,representation_repairable,0.45,cardiomyopathy_overlap,assertion_condition_label,1,-0.0,cardiomyopathy_overlap,structural_electrical,0.7,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38585891:T:A,SCN5A,VCV002498925,2498925,NM_000335.5(SCN5A):c.2587A>T (p.Lys863Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2498925,2498925,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38609828:G:T,SCN5A,VCV002444515,2444515,NM_000335.5(SCN5A):c.840C>A (p.Cys280Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2444515,2444515,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38613772:C:G,SCN5A,VCV002203341,2203341,NM_000335.5(SCN5A):c.674G>C (p.Arg225Pro),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2203341,2203341,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38604830:C:A,SCN5A,VCV002203340,2203340,NM_000335.5(SCN5A):c.1417G>T (p.Glu473Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2203340,2203340,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38585996:G:A,SCN5A,VCV002203339,2203339,NM_000335.5(SCN5A):c.2482C>T (p.Leu828Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2203339,2203339,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38585936:TG:T,SCN5A,VCV002203338,2203338,NM_000335.5(SCN5A):c.2541del (p.Ile848fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2203338,2203338,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38581358:AAG:A,SCN5A,VCV002203337,2203337,NM_000335.5(SCN5A):c.2799_2800del (p.Phe934fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2203337,2203337,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38554319:C:T,SCN5A,VCV002203335,2203335,NM_000335.5(SCN5A):c.4770G>A (p.Trp1590Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2203335,2203335,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38608215:C:T,SCN5A,VCV002126186,2126186,NM_000335.5(SCN5A):c.935-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2126186,2126186,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38551089:GAGGA:G,SCN5A,VCV002124520,2124520,NM_000335.5(SCN5A):c.5276_5279del (p.Phe1759fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2124520,2124520,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38556446:T:A,SCN5A,VCV002114785,2114785,NM_000335.5(SCN5A):c.4429A>T (p.Lys1477Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2114785,2114785,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38603949:CG:C,SCN5A,VCV002113775,2113775,NM_000335.5(SCN5A):c.1652del (p.Ala551fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2113775,2113775,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38562483:T:TG,SCN5A,VCV002107269,2107269,NM_000335.5(SCN5A):c.3891dup (p.Ile1298fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2107269,2107269,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38598994:A:T,SCN5A,VCV002107170,2107170,NM_000335.5(SCN5A):c.1947T>A (p.Cys649Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2107170,2107170,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38551532:TC:T,SCN5A,VCV002106626,2106626,NM_000335.5(SCN5A):c.4836del (p.Lys1613fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2106626,2106626,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38575375:CT:C,SCN5A,VCV002100770,2100770,NM_000335.5(SCN5A):c.3584del (p.Lys1195fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2100770,2100770,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38551234:C:T,SCN5A,VCV002094285,2094285,NM_000335.5(SCN5A):c.5135G>A (p.Trp1712Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,2094285,2094285,,,,unmatched,,,,unanchored,0.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38562539:T:A,SCN5A,VCV002088946,2088946,NM_000335.5(SCN5A):c.3838-2A>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2088946,2088946,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38587511:G:C,SCN5A,VCV002069900,2069900,NM_000335.5(SCN5A):c.2325C>G (p.Tyr775Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2069900,2069900,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38608216:T:C,SCN5A,VCV002057896,2057896,NM_000335.5(SCN5A):c.935-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2057896,2057896,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38606042:TA:T,SCN5A,VCV002039747,2039747,NM_000335.5(SCN5A):c.1246del (p.Tyr416fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2039747,2039747,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38620857:AC:A,SCN5A,VCV002036709,2036709,NM_000335.5(SCN5A):c.596del (p.Ser199fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2036709,2036709,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38605976:ATGGCCTCC:A,SCN5A,VCV002031437,2031437,NM_000335.5(SCN5A):c.1305_1312del (p.Gln435fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2031437,2031437,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38551074:C:G,SCN5A,VCV002027600,2027600,NM_000335.5(SCN5A):c.5295G>C (p.Met1765Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2027600,2027600,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38633101:GC:G,SCN5A,VCV002027105,2027105,NM_000335.5(SCN5A):c.206del (p.Gly69fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2027105,2027105,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38562414:C:A,SCN5A,VCV002026498,2026498,NM_000335.5(SCN5A):c.3960+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2026498,2026498,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38585766:C:T,SCN5A,VCV002016715,2016715,NM_000335.5(SCN5A):c.2712G>A (p.Trp904Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2016715,2016715,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38555656:C:CA,SCN5A,VCV002016359,2016359,NM_000335.5(SCN5A):c.4538dup (p.Asn1514fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2016359,2016359,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38630430:CTGGGGACA:C,SCN5A,VCV002011754,2011754,NM_000335.5(SCN5A):c.274-9_274-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2011754,2011754,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38580930:C:G,SCN5A,VCV001937049,1937049,NM_000335.5(SCN5A):c.3228+1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1937049,1937049,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38633203:G:GC,SCN5A,VCV001803812,1803812,NM_000335.5(SCN5A):c.104dup (p.Ser36fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1803812,1803812,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38581161:G:A,SCN5A,VCV001798592,1798592,NM_000335.5(SCN5A):c.2998C>T (p.Gln1000Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1798592,1798592,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38581372:CT:C,SCN5A,VCV001795999,1795999,NM_000335.5(SCN5A):c.2788-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1795999,1795999,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38585957:TC:T,SCN5A,VCV001792542,1792542,NM_000335.5(SCN5A):c.2520del (p.Asn841fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1792542,1792542,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38597737:C:G,SCN5A,VCV001788496,1788496,NM_000335.5(SCN5A):c.2254G>C (p.Gly752Arg),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1788496,1788496,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38603923:G:C,SCN5A,VCV001777850,1777850,NM_000335.5(SCN5A):c.1679C>G (p.Ser560Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1777850,1777850,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38604785:C:CCT,SCN5A,VCV001773144,1773144,NM_000335.5(SCN5A):c.1460_1461dup (p.Glu488fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1773144,1773144,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38633214:G:A,SCN5A,VCV001767167,1767167,NM_000335.5(SCN5A):c.94C>T (p.Gln32Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1767167,1767167,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38606058:CG:C,SCN5A,VCV001755450,1755450,NM_000335.5(SCN5A):c.1230del (p.Val411fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1755450,1755450,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38633267:CG:C,SCN5A,VCV001737836,1737836,NM_000335.5(SCN5A):c.40del (p.Arg14fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1737836,1737836,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38566552:TC:T,SCN5A,VCV001733997,1733997,NM_000335.5(SCN5A):c.3693del (p.Lys1232fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1733997,1733997,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38579379:C:T,SCN5A,VCV001730458,1730458,NM_000335.5(SCN5A):c.3342G>A (p.Trp1114Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1730458,1730458,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38579440:C:T,SCN5A,VCV001729777,1729777,NM_000335.5(SCN5A):c.3281G>A (p.Trp1094Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1729777,1729777,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38633133:G:A,SCN5A,VCV001691761,1691761,NM_000335.5(SCN5A):c.175C>T (p.Gln59Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1691761,1691761,Brugada syndrome 1|Brugada syndrome,Brugada syndrome 1|Brugada syndrome,Brugada syndrome 1|Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38575310:C:A,SCN5A,VCV001691220,1691220,NM_000335.5(SCN5A):c.3650G>T (p.Ser1217Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1691220,1691220,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38581062:G:A,SCN5A,VCV001678156,1678156,NM_000335.5(SCN5A):c.3097C>T (p.Gln1033Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1678156,1678156,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38562426:C:A,SCN5A,VCV001678123,1678123,NM_000335.5(SCN5A):c.3949G>T (p.Glu1317Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1678123,1678123,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38585800:C:A,SCN5A,VCV001527869,1527869,NM_000335.5(SCN5A):c.2678G>T (p.Arg893Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1527869,1527869,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38606150:T:C,SCN5A,VCV001521971,1521971,NM_000335.5(SCN5A):c.1141-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1521971,1521971,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38575295:A:G,SCN5A,VCV001510225,1510225,NM_000335.5(SCN5A):c.3663+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1510225,1510225,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38576782:C:T,SCN5A,VCV001502792,1502792,NM_000335.5(SCN5A):c.3388-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1502792,1502792,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38606667:A:C,SCN5A,VCV001502060,1502060,NM_000335.5(SCN5A):c.1140+2T>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1502060,1502060,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38633040:G:A,SCN5A,VCV001460043,1460043,NM_000335.5(SCN5A):c.268C>T (p.Gln90Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1460043,1460043,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38580984:G:A,SCN5A,VCV001458577,1458577,NM_000335.5(SCN5A):c.3175C>T (p.Gln1059Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1458577,1458577,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38575387:C:T,SCN5A,VCV001458575,1458575,NM_000335.5(SCN5A):c.3573G>A (p.Trp1191Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1458575,1458575,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38622396:TCACTCGACATA:T,SCN5A,VCV001455926,1455926,NM_000335.5(SCN5A):c.475_482+3del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1455926,1455926,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38581132:G:T,SCN5A,VCV001455755,1455755,NM_000335.5(SCN5A):c.3027C>A (p.Tyr1009Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1455755,1455755,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38604046:GA:G,SCN5A,VCV001455694,1455694,NM_000335.5(SCN5A):c.1555del (p.Ser519fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1455694,1455694,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38597900:C:T,SCN5A,VCV001454071,1454071,NM_000335.5(SCN5A):c.2091G>A (p.Trp697Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1454071,1454071,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38550922:AAGTC:A,SCN5A,VCV001452285,1452285,NM_000335.5(SCN5A):c.5443_5446del (p.Asp1815fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1452285,1452285,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38556501:GA:G,SCN5A,VCV001451878,1451878,NM_000335.5(SCN5A):c.4373del (p.Phe1458fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1451878,1451878,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38555697:GCTT:G,SCN5A,VCV001449654,1449654,NM_000335.5(SCN5A):c.4492AAG[1] (p.Lys1499del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1449654,1449654,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38556451:TGTTG:T,SCN5A,VCV001434817,1434817,NM_000335.5(SCN5A):c.4420_4423del (p.Gln1474fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1434817,1434817,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38633091:G:A,SCN5A,VCV001408176,1408176,NM_000335.5(SCN5A):c.217C>T (p.Gln73Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1408176,1408176,Cardiovascular phenotype|Brugada syndrome (shorter-than-normal QT interval),Cardiovascular phenotype|Brugada syndrome (shorter-than-normal QT interval),Cardiovascular phenotype|Brugada syndrome (shorter-than-normal QT interval),variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38604794:CT:C,SCN5A,VCV001406093,1406093,NM_000335.5(SCN5A):c.1452del (p.Gly485fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1406093,1406093,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38581116:CTG:C,SCN5A,VCV001392890,1392890,NM_000335.5(SCN5A):c.3041_3042del (p.Pro1014fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1392890,1392890,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38585944:A:AC,SCN5A,VCV001386100,1386100,NM_000335.5(SCN5A):c.2533dup (p.Val845fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1386100,1386100,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38620876:C:T,SCN5A,VCV001374462,1374462,NM_000335.5(SCN5A):c.578G>A (p.Trp193Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1374462,1374462,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38604012:GA:G,SCN5A,VCV001361908,1361908,NM_000335.5(SCN5A):c.1589del (p.Phe530fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1361908,1361908,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38606811:C:T,SCN5A,VCV001348900,1348900,NM_000335.5(SCN5A):c.999-1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1348900,1348900,Cardiovascular phenotype||Familial sick sinus syndrome,Cardiovascular phenotype||Familial sick sinus syndrome,Cardiovascular phenotype||Familial sick sinus syndrome,variation_id,,,,representation_repairable,0.45,conduction,assertion_condition_label,1,-0.0,conduction,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38613742:C:G,SCN5A,VCV001345786,1345786,NM_000335.5(SCN5A):c.703+1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1345786,1345786,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38554274:C:T,SCN5A,VCV001326912,1326912,NM_000335.5(SCN5A):c.4810+5G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1326912,1326912,Brugada syndrome|Brugada syndrome 1,Brugada syndrome|Brugada syndrome 1,Brugada syndrome|Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38608217:G:C,SCN5A,VCV001326908,1326908,NM_000335.5(SCN5A):c.935-3C>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1326908,1326908,Brugada syndrome|Brugada syndrome 1,Brugada syndrome|Brugada syndrome 1,Brugada syndrome|Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38566425:T:C,SCN5A,VCV001326907,1326907,NM_000335.5(SCN5A):c.3821A>G (p.Asp1274Gly),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1326907,1326907,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38556561:C:CT,SCN5A,VCV001299249,1299249,NM_000335.5(SCN5A):c.4313dup (p.Trp1439fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1299249,1299249,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38587515:TA:T,SCN5A,VCV001285130,1285130,NM_000335.5(SCN5A):c.2320del (p.Tyr774fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1285130,1285130,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38551459:C:A,SCN5A,VCV001188516,1188516,NM_000335.5(SCN5A):c.4910G>T (p.Arg1637Leu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1188516,1188516,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38597761:C:A,SCN5A,VCV001187556,1187556,NM_000335.5(SCN5A):c.2230G>T (p.Glu744Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1187556,1187556,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38566483:GC:G,SCN5A,VCV001185878,1185878,NM_000335.5(SCN5A):c.3762del (p.Leu1255fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1185878,1185878,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38609855:G:GAGCT,SCN5A,VCV001184975,1184975,NM_000335.5(SCN5A):c.809_812dup (p.Phe272fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1184975,1184975,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38581004:GC:G,SCN5A,VCV001076640,1076640,NM_000335.5(SCN5A):c.3154del (p.Ala1052fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1076640,1076640,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38576775:C:A,SCN5A,VCV001076635,1076635,NM_000335.5(SCN5A):c.3394G>T (p.Glu1132Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1076635,1076635,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38566487:CA:C,SCN5A,VCV001076515,1076515,NM_000335.5(SCN5A):c.3758del (p.Met1253fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1076515,1076515,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38609766:CA:C,SCN5A,VCV001076513,1076513,NM_000335.5(SCN5A):c.901del (p.Trp301fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1076513,1076513,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38551532:T:A,SCN5A,VCV001075437,1075437,NM_000335.5(SCN5A):c.4837A>T (p.Lys1613Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,1075437,1075437,,,,unmatched,,,,unanchored,0.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38560303:GC:G,SCN5A,VCV001073809,1073809,NM_000335.5(SCN5A):c.4085del (p.Cys1362fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1073809,1073809,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38556554:A:AT,SCN5A,VCV001073629,1073629,NM_000335.5(SCN5A):c.4320dup (p.Tyr1441fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1073629,1073629,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38585860:G:C,SCN5A,VCV001072446,1072446,NM_000335.5(SCN5A):c.2618C>G (p.Ser873Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1072446,1072446,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38630368:T:TA,SCN5A,VCV001071777,1071777,NM_000335.5(SCN5A):c.334dup (p.Tyr112fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1071777,1071777,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38581107:T:A,SCN5A,VCV001069115,1069115,NM_000335.5(SCN5A):c.3052A>T (p.Lys1018Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1069115,1069115,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38557230:C:A,SCN5A,VCV001068181,1068181,NM_000335.5(SCN5A):c.4296+1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1068181,1068181,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38597968:C:T,SCN5A,VCV001067586,1067586,NM_000335.5(SCN5A):c.2024-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1067586,1067586,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38560428:C:A,SCN5A,VCV001066010,1066010,NM_000335.5(SCN5A):c.3961G>T (p.Val1321Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1066010,1066010,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38557232:CCCCTGGAGTCCACAGCTGCATACATAATGT:C,SCN5A,VCV001012143,1012143,NM_000335.5(SCN5A):c.4265_4294del (p.Asp1422_Arg1431del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1012143,1012143,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38633253:C:A,SCN5A,VCV000988404,988404,NM_000335.5(SCN5A):c.55G>T (p.Glu19Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,988404,988404,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38554550:C:A,SCN5A,VCV000987436,987436,NM_000335.5(SCN5A):c.4540-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,987436,987436,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38613835:C:T,SCN5A,VCV000984516,984516,NM_000335.5(SCN5A):c.612-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,984516,984516,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38550925:TCAGA:T,SCN5A,VCV000984492,984492,NM_000335.5(SCN5A):c.5440_5443del (p.Ser1814fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,984492,984492,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38585689:A:T,SCN5A,VCV000979203,979203,NM_000335.5(SCN5A):c.2787+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,979203,979203,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,unanchored,0.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38587500:TG:T,SCN5A,VCV000979075,979075,NM_000335.5(SCN5A):c.2335del (p.Gln779fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,979075,979075,Long QT syndrome 3;Brugada syndrome 1,Long QT syndrome 3;Brugada syndrome 1,Long QT syndrome 3;Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38585996:G:C,SCN5A,VCV000978725,978725,NM_000335.5(SCN5A):c.2482C>G (p.Leu828Val),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,978725,978725,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38606091:C:A,SCN5A,VCV000972696,972696,NM_000335.5(SCN5A):c.1198G>T (p.Gly400Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,972696,972696,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38598978:C:A,SCN5A,VCV000972691,972691,NM_000335.5(SCN5A):c.1963G>T (p.Glu655Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,972691,972691,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38585901:CT:C,SCN5A,VCV000970218,970218,NM_000335.5(SCN5A):c.2576del (p.Gln859fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,970218,970218,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38581298:CT:C,SCN5A,VCV000961103,961103,NM_000335.5(SCN5A):c.2860del (p.Arg954fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,961103,961103,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38633176:CT:C,SCN5A,VCV000956404,956404,NM_000335.5(SCN5A):c.131del (p.Glu44fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,956404,956404,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38560264:G:GGT,SCN5A,VCV000952177,952177,NM_000335.5(SCN5A):c.4123_4124dup (p.Ile1376fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,952177,952177,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38581117:T:TGGGGGTGGCGGGGAGTA,SCN5A,VCV000944678,944678,NM_000335.5(SCN5A):c.3025_3041dup (p.Glu1015fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,944678,944678,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38620865:C:G,SCN5A,VCV000942054,942054,NM_000335.5(SCN5A):c.589G>C (p.Asp197His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,942054,942054,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38581343:A:G,SCN5A,VCV000940929,940929,NM_000335.5(SCN5A):c.2816T>C (p.Leu939Pro),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,940929,940929,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38613743:CT:C,SCN5A,VCV000937538,937538,NM_000335.5(SCN5A):c.702del (p.Gly235_Leu236insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,937538,937538,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38606062:C:CTATG,SCN5A,VCV000936474,936474,NM_000335.5(SCN5A):c.1226_1227insCATA (p.Ala410fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,936474,936474,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38633118:GC:G,SCN5A,VCV000928434,928434,NM_000335.5(SCN5A):c.189del (p.Lys63fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,928434,928434,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38551050:GT:G,SCN5A,VCV000927104,927104,NM_000335.5(SCN5A):c.5318del (p.Asn1773fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,927104,927104,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38562413:A:ACCCTCATG,SCN5A,VCV000927012,927012,NM_000335.5(SCN5A):c.3954_3960+1dup,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,927012,927012,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38562476:GA:G,SCN5A,VCV000917995,917995,NM_000335.5(SCN5A):c.3898del (p.Ser1300fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,917995,917995,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38585735:AT:A,SCN5A,VCV000863801,863801,NM_000335.5(SCN5A):c.2742del (p.Leu914fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,863801,863801,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38562529:CAG:C,SCN5A,VCV000858385,858385,NM_000335.5(SCN5A):c.3844_3845del (p.Leu1282fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,858385,858385,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38550877:TG:T,SCN5A,VCV000856890,856890,NM_000335.5(SCN5A):c.5491del (p.Gln1831fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,856890,856890,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38550990:GA:G,SCN5A,VCV000853346,853346,NM_000335.5(SCN5A):c.5378del (p.Phe1793fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,853346,853346,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38620877:AT:A,SCN5A,VCV000851951,851951,NM_000335.5(SCN5A):c.576del (p.Trp193fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,851951,851951,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38587575:T:C,SCN5A,VCV000851217,851217,NM_000335.5(SCN5A):c.2263-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,851217,851217,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38622405:A:C,SCN5A,VCV000850294,850294,NM_000335.5(SCN5A):c.477T>G (p.Tyr159Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,850294,850294,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38633190:G:A,SCN5A,VCV000848941,848941,NM_000335.5(SCN5A):c.118C>T (p.Gln40Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,848941,848941,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38560209:AG:A,SCN5A,VCV000848007,848007,NM_000335.5(SCN5A):c.4179del (p.Trp1394fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,848007,848007,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38575452:C:T,SCN5A,VCV000847226,847226,NM_000335.5(SCN5A):c.3509-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,847226,847226,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38581258:CT:C,SCN5A,VCV000845474,845474,NM_000335.5(SCN5A):c.2900del (p.Gln967fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,845474,845474,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38606705:CA:C,SCN5A,VCV000844438,844438,NM_000335.5(SCN5A):c.1103del (p.Leu368fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,844438,844438,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38554381:A:G,SCN5A,VCV000830371,830371,NM_000335.5(SCN5A):c.4708T>C (p.Phe1570Leu),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,exact_match_without_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,830371,830371,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,unanchored,0.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38562436:CAG:C,SCN5A,VCV000817608,817608,NM_000335.5(SCN5A):c.3937_3938del (p.Leu1313fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,817608,817608,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38603945:C:A,SCN5A,VCV000811838,811838,NM_000335.5(SCN5A):c.1657G>T (p.Glu553Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,811838,811838,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38576715:G:A,SCN5A,VCV000801959,801959,NM_000335.5(SCN5A):c.3454C>T (p.Gln1152Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,801959,801959,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38554372:C:A,SCN5A,VCV000691966,691966,NM_000335.5(SCN5A):c.4717G>T (p.Glu1573Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,691966,691966,Brugada syndrome 1|Cardiac arrhythmia|Brugada syndrome,Brugada syndrome 1|Cardiac arrhythmia|Brugada syndrome,Brugada syndrome 1|Cardiac arrhythmia|Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38557229:A:AC,SCN5A,VCV000691705,691705,NM_000335.5(SCN5A):c.4296+1dup,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,691705,691705,Ventricular tachycardia,Ventricular tachycardia,Ventricular tachycardia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38551515:CG:C,SCN5A,VCV000689494,689494,NM_000335.5(SCN5A):c.4853del (p.Pro1618fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,689494,689494,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38557286:T:C,SCN5A,VCV000667016,667016,NM_000335.5(SCN5A):c.4243-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,667016,667016,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38575390:C:T,SCN5A,VCV000660776,660776,NM_000335.5(SCN5A):c.3570G>A (p.Trp1190Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,660776,660776,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,unanchored,0.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38587537:T:TG,SCN5A,VCV000654856,654856,NM_000335.5(SCN5A):c.2298dup (p.Lys767fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,654856,654856,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38606674:G:A,SCN5A,VCV000641344,641344,NM_000335.5(SCN5A):c.1135C>T (p.Gln379Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,641344,641344,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38555735:G:T,SCN5A,VCV000637991,637991,NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,637991,637991,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38606743:C:A,SCN5A,VCV000637989,637989,NM_000335.5(SCN5A):c.1066G>T (p.Asp356Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,637989,637989,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38581213:A:T,SCN5A,VCV000633410,633410,NM_000335.5(SCN5A):c.2946T>A (p.Cys982Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,633410,633410,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38566565:G:C,SCN5A,VCV000632980,632980,NM_000335.5(SCN5A):c.3681C>G (p.Tyr1227Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,632980,632980,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38556566:G:A,SCN5A,VCV000598785,598785,NM_000335.5(SCN5A):c.4309C>T (p.Pro1437Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,598785,598785,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38622447:G:T,SCN5A,VCV000598784,598784,NM_000335.5(SCN5A):c.435C>A (p.Cys145Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,598784,598784,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38550986:C:A,SCN5A,VCV000583354,583354,NM_000335.5(SCN5A):c.5383G>T (p.Glu1795Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,583354,583354,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38554434:CT:C,SCN5A,VCV000582177,582177,NM_000335.5(SCN5A):c.4654del (p.Ser1552fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,582177,582177,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38555665:T:TGGG,SCN5A,VCV000581866,581866,NM_000335.5(SCN5A):c.4527_4529dup (p.Pro1510dup),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,581866,581866,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38550986:CAT:C,SCN5A,VCV000579734,579734,NM_000335.5(SCN5A):c.5381_5382del (p.Phe1793_Tyr1794insTer),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,579734,579734,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38550773:C:A,SCN5A,VCV000572957,572957,NM_000335.5(SCN5A):c.5596G>T (p.Glu1866Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,572957,572957,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38551007:CCTCA:C,SCN5A,VCV000572252,572252,NM_000335.5(SCN5A):c.5358_5361del (p.Ser1786fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,572252,572252,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38609920:G:C,SCN5A,VCV000572011,572011,NM_000335.5(SCN5A):c.748C>G (p.Leu250Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,572011,572011,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38551093:A:C,SCN5A,VCV000571408,571408,NM_000335.5(SCN5A):c.5276T>G (p.Phe1759Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,571408,571408,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38555727:G:A,SCN5A,VCV000560692,560692,NM_000335.5(SCN5A):c.4468C>T (p.Gln1490Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,560692,560692,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38603988:AC:A,SCN5A,VCV000523568,523568,NM_000335.5(SCN5A):c.1613del (p.Gly538fs),Pathogenic/Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,523568,523568,Sick sinus syndrome 1|Cardiac arrhythmia,Sick sinus syndrome 1|Cardiac arrhythmia,Sick sinus syndrome 1|Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia|conduction,assertion_condition_label,2,1.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38581191:G:A,SCN5A,VCV000520461,520461,NM_000335.5(SCN5A):c.2968C>T (p.Gln990Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,520461,520461,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38566437:C:T,SCN5A,VCV000519554,519554,NM_000335.5(SCN5A):c.3809G>A (p.Trp1270Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519554,519554,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38579461:GC:G,SCN5A,VCV000519464,519464,NM_000335.5(SCN5A):c.3259del (p.Ala1087fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519464,519464,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38598917:C:T,SCN5A,VCV000519460,519460,NM_000335.5(SCN5A):c.2023+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519460,519460,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38556493:AG:A,SCN5A,VCV000519429,519429,NM_000335.5(SCN5A):c.4381del (p.Thr1460_Leu1461insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519429,519429,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38551074:C:T,SCN5A,VCV000519384,519384,NM_000335.5(SCN5A):c.5295G>A (p.Met1765Ile),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519384,519384,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38586012:C:T,SCN5A,VCV000505895,505895,NM_000335.5(SCN5A):c.2466G>A (p.Trp822Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,505895,505895,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38609966:T:C,SCN5A,VCV000505834,505834,NM_000335.5(SCN5A):c.704-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,505834,505834,Brugada syndrome||Cardiovascular phenotype,Brugada syndrome||Cardiovascular phenotype,Brugada syndrome||Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38575452:C:G,SCN5A,VCV000496573,496573,NM_000335.5(SCN5A):c.3509-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,496573,496573,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38562501:AG:A,SCN5A,VCV000463332,463332,NM_000335.5(SCN5A):c.3873del (p.Phe1292fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463332,463332,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38581077:AC:A,SCN5A,VCV000463318,463318,NM_000335.5(SCN5A):c.3081del (p.Phe1028fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,463318,463318,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38633104:A:T,SCN5A,VCV000463308,463308,NM_000335.5(SCN5A):c.204T>A (p.Tyr68Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,463308,463308,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38606688:C:T,SCN5A,VCV000463292,463292,NM_000335.5(SCN5A):c.1121G>A (p.Trp374Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463292,463292,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38550909:CAG:C,SCN5A,VCV000452184,452184,NM_000335.5(SCN5A):c.5458_5459del (p.Leu1820fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,452184,452184,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38622414:C:T,SCN5A,VCV000448976,448976,NM_000335.5(SCN5A):c.468G>A (p.Trp156Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,448976,448976,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38551076:T:A,SCN5A,VCV000446418,446418,NM_000335.5(SCN5A):c.5293A>T (p.Met1765Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,446418,446418,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38560392:TGGACG:T,SCN5A,VCV000432733,432733,NM_000335.5(SCN5A):c.3992_3996del (p.Pro1331fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,432733,432733,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38622491:T:C,SCN5A,VCV000432148,432148,NM_000335.5(SCN5A):c.393-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,432148,432148,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38560245:G:A,SCN5A,VCV000431948,431948,NM_000335.5(SCN5A):c.4144C>T (p.Gln1382Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,431948,431948,Cardiovascular phenotype|Brugada syndrome,Cardiovascular phenotype|Brugada syndrome,Cardiovascular phenotype|Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38633204:CCG:C,SCN5A,VCV000429979,429979,NM_000335.5(SCN5A):c.102_103del (p.Gly35fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,429979,429979,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38551289:G:A,SCN5A,VCV000426612,426612,NM_000335.5(SCN5A):c.5080C>T (p.Gln1694Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,426612,426612,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38551181:TG:T,SCN5A,VCV000426254,426254,NM_000335.5(SCN5A):c.5187del (p.Thr1730fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,426254,426254,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38560197:TC:T,SCN5A,VCV000423108,423108,NM_000335.5(SCN5A):c.4191del (p.Val1399fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,423108,423108,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38579476:GA:G,SCN5A,VCV000422443,422443,NM_000335.5(SCN5A):c.3244del (p.Ser1082fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,422443,422443,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38599020:G:A,SCN5A,VCV000421358,421358,NM_000335.5(SCN5A):c.1921C>T (p.Gln641Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,421358,421358,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38550838:C:CCACT,SCN5A,VCV000420342,420342,NM_000335.5(SCN5A):c.5527_5530dup (p.Gly1844fs),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,420342,420342,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38587501:G:GTTGGAAA,SCN5A,VCV000419109,419109,NM_000335.5(SCN5A):c.2334_2335insTTTCCAA (p.Gln779fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,419109,419109,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38550944:C:A,SCN5A,VCV000406440,406440,NM_000335.5(SCN5A):c.5425G>T (p.Glu1809Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,406440,406440,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38633203:GC:G,SCN5A,VCV000406435,406435,NM_000335.5(SCN5A):c.104del (p.Gly35fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,406435,406435,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38579439:C:T,SCN5A,VCV000406434,406434,NM_000335.5(SCN5A):c.3282G>A (p.Trp1094Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,406434,406434,Brugada syndrome||Brugada syndrome 1|Cardiovascular phenotype,Brugada syndrome||Brugada syndrome 1|Cardiovascular phenotype,Brugada syndrome||Brugada syndrome 1|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38609764:C:A,SCN5A,VCV000406427,406427,NM_000335.5(SCN5A):c.904G>T (p.Glu302Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,406427,406427,Cardiovascular phenotype|SCN5A-related disorder|Brugada syndrome (shorter-than-normal QT interval),Cardiovascular phenotype|SCN5A-related disorder|Brugada syndrome (shorter-than-normal QT interval),Cardiovascular phenotype|SCN5A-related disorder|Brugada syndrome (shorter-than-normal QT interval),variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38581226:C:T,SCN5A,VCV000406426,406426,NM_000335.5(SCN5A):c.2933G>A (p.Trp978Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,406426,406426,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38581136:GGGGTGGCAATGCA:G,SCN5A,VCV000406419,406419,NM_000335.5(SCN5A):c.3010_3022del (p.Cys1004fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,406419,406419,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38550782:C:A,SCN5A,VCV000406418,406418,NM_000335.5(SCN5A):c.5587G>T (p.Glu1863Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,406418,406418,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38550951:CTGAG:C,SCN5A,VCV000406415,406415,NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,406415,406415,Cardiovascular phenotype|8 conditions,Cardiovascular phenotype|8 conditions,Cardiovascular phenotype|8 conditions,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38585842:C:T,SCN5A,VCV000406396,406396,NM_000335.5(SCN5A):c.2636G>A (p.Trp879Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,406396,406396,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38597804:GAGT:G,SCN5A,VCV000403732,403732,NM_000335.5(SCN5A):c.2184_2186del (p.Leu729del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,403732,403732,Familial isolated arrhythmogenic right ventricular dysplasia|Brugada syndrome 1,Familial isolated arrhythmogenic right ventricular dysplasia|Brugada syndrome 1,Familial isolated arrhythmogenic right ventricular dysplasia|Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada|cardiomyopathy_overlap,assertion_condition_label,2,1.0,Brugada,structural_electrical,0.7,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+3:38633034:C:T,SCN5A,VCV000392337,392337,NM_000335.5(SCN5A):c.273+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,392337,392337,Cervical cancer,Cervical cancer,Cervical cancer,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38551459:C:G,SCN5A,VCV000389150,389150,NM_000335.5(SCN5A):c.4910G>C (p.Arg1637Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,389150,389150,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+3:38606034:G:A,SCN5A,VCV000374130,374130,NM_000335.5(SCN5A):c.1255C>T (p.Gln419Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,374130,374130,Syncope,Syncope,Syncope,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+21:34449542:GGCCAGGCCCGACATGTT:G,KCNE1,VCV004724223,4724223,NM_000219.6(KCNE1):c.76_92del (p.Asn26fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4724223,4724223,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+21:34449512:CT:C,KCNE1,VCV003601178,3601178,NM_000219.6(KCNE1):c.122del (p.Lys41fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3601178,3601178,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+21:34449404:TG:T,KCNE1,VCV001415503,1415503,NM_000219.6(KCNE1):c.230del (p.Pro77fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1415503,1415503,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+21:34449611:C:CGCTG,KCNE1,VCV001343372,1343372,NM_000219.6(KCNE1):c.20_23dup (p.Val9fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.4166666666666667,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1343372,1343372,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+21:34449634:T:A,KCNE1,VCV001065921,1065921,NM_000219.6(KCNE1):c.1A>T (p.Met1Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1065921,1065921,Long QT syndrome|Long QT syndrome 5,Long QT syndrome|Long QT syndrome 5,Long QT syndrome|Long QT syndrome 5,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+21:34449540:C:CG,KCNE1,VCV000812588,812588,NM_000219.6(KCNE1):c.94dup (p.Arg32fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,812588,812588,Long QT syndrome;Hereditary hearing loss and deafness,Long QT syndrome;Hereditary hearing loss and deafness,Long QT syndrome;Hereditary hearing loss and deafness,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+21:34449367:T:A,KCNE1,VCV000620398,620398,NM_000219.6(KCNE1):c.268A>T (p.Lys90Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,620398,620398,Long QT syndrome 5,Long QT syndrome 5,Long QT syndrome 5,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+21:34449429:TTGGA:T,KCNE1,VCV000527017,527017,NM_000219.6(KCNE1):c.202_205del (p.Ser68fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,527017,527017,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+21:34449406:GGT:TAGA,KCNE1,VCV000441101,441101,NM_000219.6(KCNE1):c.227_229delinsTCTA (p.Asp76fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.4166666666666667,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,441101,441101,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+1:237784024:C:A,RYR2,VCV004814200,4814200,NM_001035.3(RYR2):c.12312C>A (p.Asn4104Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4814200,4814200,RYR2-related disorder,RYR2-related disorder,RYR2-related disorder,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237808911:C:T,RYR2,VCV004800130,4800130,NM_001035.3(RYR2):c.14309C>T (p.Thr4770Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4800130,4800130,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237784290:G:T,RYR2,VCV004800118,4800118,NM_001035.3(RYR2):c.12578G>T (p.Cys4193Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4800118,4800118,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237783729:C:T,RYR2,VCV004800115,4800115,NM_001035.3(RYR2):c.12017C>T (p.Ser4006Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4800115,4800115,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237707057:A:G,RYR2,VCV004800104,4800104,NM_001035.3(RYR2):c.9689A>G (p.Gln3230Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4800104,4800104,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237633707:C:A,RYR2,VCV004800083,4800083,NM_001035.3(RYR2):c.6685C>A (p.Leu2229Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4800083,4800083,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237778718:C:A,RYR2,VCV004697937,4697937,NM_001035.3(RYR2):c.11828C>A (p.Ala3943Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4697937,4697937,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237778727:G:T,RYR2,VCV004614849,4614849,NM_001035.3(RYR2):c.11837G>T (p.Gly3946Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4614849,4614849,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237441455:CCGTGAGAATGGGATCTATACAACGTAAGGTAAGGTGATAGAAAAAAACATAATTTATAGAAGTAATTTTTTATGAATACACAAGCACAAG:C,RYR2,VCV004542511,4542511,NM_001035.3(RYR2):c.1143_1170+62del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4542511,4542511,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237784242:T:G,RYR2,VCV004537880,4537880,NM_001035.3(RYR2):c.12530T>G (p.Val4177Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4537880,4537880,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237783938:G:A,RYR2,VCV004531406,4531406,NM_001035.3(RYR2):c.12226G>A (p.Glu4076Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4531406,4531406,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237441383:G:T,RYR2,VCV004291726,4291726,NM_001035.3(RYR2):c.1070G>T (p.Gly357Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4291726,4291726,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237387326:C:T,RYR2,VCV004071994,4071994,NM_001035.3(RYR2):c.622C>T (p.Gln208Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4071994,4071994,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237793907:G:T,RYR2,VCV003949071,3949071,NM_001035.3(RYR2):c.13823G>T (p.Arg4608Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3949071,3949071,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237441275:TTTTTGAAATGTTTACTGACCTTTTTTTCCTCCTCTCCCCTTAGGA:ATTTTG,RYR2,VCV003901845,3901845,NM_001035.3(RYR2):c.1006-44_1007delinsATTTTG,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3901845,3901845,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237819130:G:T,RYR2,VCV003895065,3895065,NM_001035.3(RYR2):c.14528G>T (p.Arg4843Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3895065,3895065,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237801912:A:G,RYR2,VCV003894941,3894941,NM_001035.3(RYR2):c.14147A>G (p.Asp4716Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3894941,3894941,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237648501:C:T,RYR2,VCV003894655,3894655,NM_001035.3(RYR2):c.7400C>T (p.Ala2467Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894655,3894655,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237377353:C:A,RYR2,VCV003776659,3776659,NM_001035.3(RYR2):c.494C>A (p.Ala165Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3776659,3776659,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237783971:T:C,RYR2,VCV003766443,3766443,NM_001035.3(RYR2):c.12259T>C (p.Phe4087Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,3766443,3766443,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,unanchored,0.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237798092:G:A,RYR2,VCV003633845,3633845,NM_001035.3(RYR2):c.14012G>A (p.Gly4671Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3633845,3633845,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237784143:G:T,RYR2,VCV003633837,3633837,NM_001035.3(RYR2):c.12431G>T (p.Arg4144Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3633837,3633837,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237639059:A:G,RYR2,VCV003633806,3633806,NM_001035.3(RYR2):c.6973A>G (p.Ile2325Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3633806,3633806,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237784233:T:C,RYR2,VCV003572967,3572967,NM_001035.3(RYR2):c.12521T>C (p.Phe4174Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3572967,3572967,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237640950:C:T,RYR2,VCV003544417,3544417,NM_001035.3(RYR2):c.7169C>T (p.Thr2390Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3544417,3544417,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237638457:A:G,RYR2,VCV003544409,3544409,NM_001035.3(RYR2):c.6893A>G (p.Tyr2298Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3544409,3544409,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237778684:C:G,RYR2,VCV003391121,3391121,NM_001035.3(RYR2):c.11794C>G (p.Gln3932Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3391121,3391121,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+1:237808910:A:G,RYR2,VCV003383138,3383138,NM_001035.3(RYR2):c.14308A>G (p.Thr4770Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3383138,3383138,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237727196:C:T,RYR2,VCV003382069,3382069,NM_001035.3(RYR2):c.10835C>T (p.Pro3612Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3382069,3382069,Catecholaminergic polymorphic ventricular tachycardia 1;Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Catecholaminergic polymorphic ventricular tachycardia 1;Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Catecholaminergic polymorphic ventricular tachycardia 1;Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237640956:A:T,RYR2,VCV003338338,3338338,NM_001035.3(RYR2):c.7175A>T (p.Tyr2392Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3338338,3338338,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237806143:C:T,RYR2,VCV003337537,3337537,NM_001035.3(RYR2):c.14158C>T (p.Leu4720Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3337537,3337537,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237708886:GAAAC:G,RYR2,VCV003065287,3065287,NM_001035.3(RYR2):c.9931_9934del (p.Lys3311fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3065287,3065287,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+1:237819075:G:A,RYR2,VCV002920176,2920176,NM_001035.3(RYR2):c.14473G>A (p.Gly4825Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2920176,2920176,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237638437:C:A,RYR2,VCV002883988,2883988,NM_001035.3(RYR2):c.6873C>A (p.Asn2291Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2883988,2883988,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237643382:T:G,RYR2,VCV002865610,2865610,NM_001035.3(RYR2):c.7277T>G (p.Leu2426Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2865610,2865610,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237638462:G:C,RYR2,VCV002840453,2840453,NM_001035.3(RYR2):c.6898G>C (p.Asp2300His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2840453,2840453,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237445429:A:G,RYR2,VCV002806184,2806184,NM_001035.3(RYR2):c.1199A>G (p.Asp400Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2806184,2806184,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237793882:T:A,RYR2,VCV002758112,2758112,NM_001035.3(RYR2):c.13798T>A (p.Phe4600Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,2758112,2758112,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,unanchored,0.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237784223:C:G,RYR2,VCV002747580,2747580,NM_001035.3(RYR2):c.12511C>G (p.Gln4171Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2747580,2747580,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237648521:A:G,RYR2,VCV002734117,2734117,NM_001035.3(RYR2):c.7420A>G (p.Arg2474Gly),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2734117,2734117,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237783984:C:G,RYR2,VCV002727021,2727021,NM_001035.3(RYR2):c.12272C>G (p.Ala4091Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2727021,2727021,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237832640:T:C,RYR2,VCV002719667,2719667,NM_001035.3(RYR2):c.14897T>C (p.Leu4966Pro),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2719667,2719667,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237377426:A:C,RYR2,VCV002707246,2707246,NM_001035.3(RYR2):c.567A>C (p.Glu189Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2707246,2707246,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237784131:G:C,RYR2,VCV002587823,2587823,NM_001035.3(RYR2):c.12419G>C (p.Gly4140Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2587823,2587823,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237638403:T:C,RYR2,VCV002575972,2575972,NM_001035.3(RYR2):c.6839T>C (p.Leu2280Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575972,2575972,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237806282:A:C,RYR2,VCV002500749,2500749,NM_001035.3(RYR2):c.14297A>C (p.Gln4766Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2500749,2500749,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237778695:G:C,RYR2,VCV002441802,2441802,NM_001035.3(RYR2):c.11805G>C (p.Leu3935Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2441802,2441802,Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia|cardiomyopathy_overlap,assertion_condition_label,3,1.584962500721156,CPVT,structural_electrical,0.7,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237784307:G:C,RYR2,VCV002435632,2435632,NM_001035.3(RYR2):c.12595G>C (p.Glu4199Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2435632,2435632,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237783728:T:A,RYR2,VCV002433112,2433112,NM_001035.3(RYR2):c.12016T>A (p.Ser4006Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2433112,2433112,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237377349:C:T,RYR2,VCV002203006,2203006,NM_001035.3(RYR2):c.490C>T (p.Pro164Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2203006,2203006,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237784187:C:A,RYR2,VCV002169498,2169498,NM_001035.3(RYR2):c.12475C>A (p.Gln4159Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2169498,2169498,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237633624:G:A,RYR2,VCV002151921,2151921,NM_001035.3(RYR2):c.6602G>A (p.Cys2201Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2151921,2151921,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237808913:G:T,RYR2,VCV002125455,2125455,NM_001035.3(RYR2):c.14311G>T (p.Val4771Phe),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2125455,2125455,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237783980:C:G,RYR2,VCV002120716,2120716,NM_001035.3(RYR2):c.12268C>G (p.Pro4090Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2120716,2120716,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237643361:T:C,RYR2,VCV002105630,2105630,NM_001035.3(RYR2):c.7256T>C (p.Ile2419Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2105630,2105630,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237638480:G:T,RYR2,VCV002101383,2101383,NM_001035.3(RYR2):c.6916G>T (p.Val2306Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2101383,2101383,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237445429:A:C,RYR2,VCV002075220,2075220,NM_001035.3(RYR2):c.1199A>C (p.Asp400Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2075220,2075220,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237633654:A:C,RYR2,VCV002018903,2018903,NM_001035.3(RYR2):c.6632A>C (p.Gln2211Pro),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2018903,2018903,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237784233:T:A,RYR2,VCV001997174,1997174,NM_001035.3(RYR2):c.12521T>A (p.Phe4174Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1997174,1997174,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237784034:C:T,RYR2,VCV001932217,1932217,NM_001035.3(RYR2):c.12322C>T (p.His4108Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1932217,1932217,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237445474:C:T,RYR2,VCV001805497,1805497,NM_001035.3(RYR2):c.1244C>T (p.Thr415Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1805497,1805497,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237270587:T:C,RYR2,VCV001805396,1805396,NM_001035.3(RYR2):c.139T>C (p.Cys47Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1805396,1805396,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237832604:C:G,RYR2,VCV001773663,1773663,NM_001035.3(RYR2):c.14861C>G (p.Ala4954Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1773663,1773663,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237377364:C:G,RYR2,VCV001745086,1745086,NM_001035.3(RYR2):c.505C>G (p.Arg169Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1745086,1745086,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237723201:A:ATCCAGAGAAGACGGTAGAAAGAG,RYR2,VCV001710227,1710227,NM_001035.3(RYR2):c.10630_10652dup (p.Val3551_Leu3552insGlnArgArgArgTer),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1710227,1710227,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237798100:A:G,RYR2,VCV001693182,1693182,NM_001035.3(RYR2):c.14020A>G (p.Lys4674Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1693182,1693182,Arrhythmogenic right ventricular cardiomyopathy,Arrhythmogenic right ventricular cardiomyopathy,Arrhythmogenic right ventricular cardiomyopathy,variation_id,,,,locus_or_regional_context,0.25,cardiomyopathy_overlap,assertion_condition_label,1,-0.0,cardiomyopathy_overlap,structural_electrical,0.7,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+1:237830611:C:T,RYR2,VCV001527876,1527876,NM_001035.3(RYR2):c.14737C>T (p.His4913Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1527876,1527876,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237634949:A:T,RYR2,VCV001527868,1527868,NM_001035.3(RYR2):c.6749A>T (p.Asn2250Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1527868,1527868,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237445402:C:A,RYR2,VCV001524904,1524904,NM_001035.3(RYR2):c.1172C>A (p.Ala391Asp),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1524904,1524904,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237633669:A:G,RYR2,VCV001499030,1499030,NM_001035.3(RYR2):c.6647A>G (p.Asp2216Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1499030,1499030,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237757772:A:G,RYR2,VCV001496297,1496297,NM_001035.3(RYR2):c.11321A>G (p.Gln3774Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1496297,1496297,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237806211:C:A,RYR2,VCV001480185,1480185,NM_001035.3(RYR2):c.14226C>A (p.His4742Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1480185,1480185,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237830584:G:A,RYR2,VCV001479669,1479669,NM_001035.3(RYR2):c.14710G>A (p.Gly4904Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1479669,1479669,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237781643:G:C,RYR2,VCV001474443,1474443,NM_001035.3(RYR2):c.11959G>C (p.Glu3987Gln),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1474443,1474443,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237784315:G:T,RYR2,VCV001472640,1472640,NM_001035.3(RYR2):c.12603G>T (p.Gln4201His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1472640,1472640,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237806237:A:T,RYR2,VCV001467901,1467901,NM_001035.3(RYR2):c.14252A>T (p.Lys4751Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1467901,1467901,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237640994:G:A,RYR2,VCV001451617,1451617,NM_001035.3(RYR2):c.7213G>A (p.Glu2405Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1451617,1451617,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237793882:T:C,RYR2,VCV001441921,1441921,NM_001035.3(RYR2):c.13798T>C (p.Phe4600Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1441921,1441921,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237784158:A:G,RYR2,VCV001441891,1441891,NM_001035.3(RYR2):c.12446A>G (p.Tyr4149Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1441891,1441891,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237784176:C:A,RYR2,VCV001410932,1410932,NM_001035.3(RYR2):c.12464C>A (p.Ser4155Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1410932,1410932,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237638464:C:G,RYR2,VCV001384586,1384586,NM_001035.3(RYR2):c.6900C>G (p.Asp2300Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1384586,1384586,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237649944:T:G,RYR2,VCV001383749,1383749,NM_001035.3(RYR2):c.7580T>G (p.Leu2527Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1383749,1383749,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237793920:T:G,RYR2,VCV001363823,1363823,NM_001035.3(RYR2):c.13836T>G (p.Phe4612Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1363823,1363823,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237760996:A:G,RYR2,VCV001346560,1346560,NM_001035.3(RYR2):c.11444A>G (p.Glu3815Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1346560,1346560,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237441339:GAGAAA:G,RYR2,VCV001342890,1342890,NM_001035.3(RYR2):c.1031_1035del (p.Lys344fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1342890,1342890,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237469125:C:T,RYR2,VCV001330215,1330215,NM_001035.3(RYR2):c.1646C>T (p.Ala549Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1330215,1330215,Arrhythmogenic right ventricular dysplasia 2;Catecholaminergic polymorphic ventricular tachycardia 1,Arrhythmogenic right ventricular dysplasia 2;Catecholaminergic polymorphic ventricular tachycardia 1,Arrhythmogenic right ventricular dysplasia 2;Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia|cardiomyopathy_overlap,assertion_condition_label,3,1.584962500721156,CPVT,structural_electrical,0.7,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237772037:G:C,RYR2,VCV001213111,1213111,NM_001035.3(RYR2):c.11583G>C (p.Gln3861His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1213111,1213111,,,,unmatched,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237784299:C:T,RYR2,VCV001119951,1119951,NM_001035.3(RYR2):c.12587C>T (p.Thr4196Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1119951,1119951,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237783695:A:C,RYR2,VCV001119950,1119950,NM_001035.3(RYR2):c.11983A>C (p.Ile3995Leu),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1119950,1119950,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+1:237377373:G:A,RYR2,VCV001072928,1072928,NM_001035.3(RYR2):c.514G>A (p.Gly172Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1072928,1072928,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237648522:G:A,RYR2,VCV001072597,1072597,NM_001035.3(RYR2):c.7421G>A (p.Arg2474Lys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1072597,1072597,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237783981:C:T,RYR2,VCV001070571,1070571,NM_001035.3(RYR2):c.12269C>T (p.Pro4090Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1070571,1070571,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237639019:G:C,RYR2,VCV001069130,1069130,NM_001035.3(RYR2):c.6933G>C (p.Glu2311Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1069130,1069130,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237806159:A:G,RYR2,VCV001067931,1067931,NM_001035.3(RYR2):c.14174A>G (p.Tyr4725Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1067931,1067931,Catecholaminergic polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237377396:T:A,RYR2,VCV001067138,1067138,NM_001035.3(RYR2):c.537T>A (p.Asp179Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1067138,1067138,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237806219:A:G,RYR2,VCV001066599,1066599,NM_001035.3(RYR2):c.14234A>G (p.Asp4745Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1066599,1066599,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237631490:C:A,RYR2,VCV001051501,1051501,NM_001035.3(RYR2):c.6504C>A (p.His2168Gln),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1051501,1051501,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237828441:T:TTCC,RYR2,VCV001013805,1013805,NM_001035.3(RYR2):c.14651_14652insTCC (p.Met4884delinsIlePro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1013805,1013805,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237784055:C:T,RYR2,VCV001007679,1007679,NM_001035.3(RYR2):c.12343C>T (p.Leu4115Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1007679,1007679,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237674163:A:AG,RYR2,VCV000982634,982634,NM_001035.3(RYR2):c.8659dup (p.Glu2887fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,982634,982634,Arrhythmogenic right ventricular dysplasia 2,Arrhythmogenic right ventricular dysplasia 2,Arrhythmogenic right ventricular dysplasia 2,variation_id,,,,locus_or_regional_context,0.25,cardiomyopathy_overlap,assertion_condition_label,1,-0.0,cardiomyopathy_overlap,structural_electrical,0.7,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+1:237445474:C:A,RYR2,VCV000979205,979205,NM_001035.3(RYR2):c.1244C>A (p.Thr415Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,979205,979205,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237784211:G:A,RYR2,VCV000979204,979204,NM_001035.3(RYR2):c.12499G>A (p.Glu4167Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,979204,979204,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237707216:T:A,RYR2,VCV000978366,978366,NM_001035.3(RYR2):c.9848T>A (p.Ile3283Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,978366,978366,Conduction disorder of the heart,Conduction disorder of the heart,Conduction disorder of the heart,variation_id,,,,locus_or_regional_context,0.25,conduction,assertion_condition_label,1,-0.0,conduction,intermittent,0.55,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+1:237633671:C:T,RYR2,VCV000957942,957942,NM_001035.3(RYR2):c.6649C>T (p.His2217Tyr),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,957942,957942,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237633708:T:C,RYR2,VCV000954202,954202,NM_001035.3(RYR2):c.6686T>C (p.Leu2229Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,954202,954202,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237492996:G:A,RYR2,VCV000947851,947851,NM_001035.3(RYR2):c.1870G>A (p.Ala624Thr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,947851,947851,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237388087:G:A,RYR2,VCV000947702,947702,NM_001035.3(RYR2):c.677G>A (p.Gly226Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,947702,947702,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237759848:T:C,RYR2,VCV000940323,940323,NM_001035.3(RYR2):c.11398T>C (p.Cys3800Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,940323,940323,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237759824:AGCCTGGCCG:A,RYR2,VCV000933804,933804,NM_001035.3(RYR2):c.11380_11388del (p.Ala3794_Leu3796del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,933804,933804,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237709543:G:GT,RYR2,VCV000931781,931781,NM_001035.3(RYR2):c.10209dup (p.Ile3404fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,931781,931781,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237648558:ATCTTCTTGAGGT:A,RYR2,VCV000915531,915531,NM_001035.3(RYR2):c.7459_7470del (p.Leu2487_Val2490del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,915531,915531,Cardiomyopathy,Cardiomyopathy,Cardiomyopathy,variation_id,,,,locus_or_regional_context,0.25,cardiomyopathy_overlap,assertion_condition_label,1,-0.0,cardiomyopathy_overlap,structural_electrical,0.7,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+1:237270563:G:GCAGAAGGATTTGGCAA,RYR2,VCV000870975,870975,NM_001035.3(RYR2):c.120_135dup (p.Leu46fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,870975,870975,,,,unmatched,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237831526:G:T,RYR2,VCV000869428,869428,NM_001035.3(RYR2):c.14769G>T (p.Met4923Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,869428,869428,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237648525:T:C,RYR2,VCV000861770,861770,NM_001035.3(RYR2):c.7424T>C (p.Val2475Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,861770,861770,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237639068:C:G,RYR2,VCV000840374,840374,NM_001035.3(RYR2):c.6982C>G (p.Pro2328Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,840374,840374,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237798158:CCTT:C,RYR2,VCV000692253,692253,NM_001035.3(RYR2):c.14079_14081del (p.Leu4694del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,692253,692253,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237784301:A:C,RYR2,VCV000665174,665174,NM_001035.3(RYR2):c.12589A>C (p.Ile4197Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,665174,665174,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237784290:G:A,RYR2,VCV000656745,656745,NM_001035.3(RYR2):c.12578G>A (p.Cys4193Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,656745,656745,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237423097:G:T,RYR2,VCV000654791,654791,NM_001035.3(RYR2):c.854G>T (p.Ser285Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,654791,654791,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237778755:G:C,RYR2,VCV000654125,654125,NM_001035.3(RYR2):c.11865G>C (p.Gln3955His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,654125,654125,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237830557:A:C,RYR2,VCV000651491,651491,NM_001035.3(RYR2):c.14683A>C (p.Asn4895His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,651491,651491,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237643361:T:G,RYR2,VCV000649923,649923,NM_001035.3(RYR2):c.7256T>G (p.Ile2419Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,649923,649923,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237778727:G:A,RYR2,VCV000644207,644207,NM_001035.3(RYR2):c.11837G>A (p.Gly3946Asp),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,644207,644207,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237778678:G:C,RYR2,VCV000637985,637985,NM_001035.3(RYR2):c.11788G>C (p.Gly3930Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,637985,637985,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237784280:G:A,RYR2,VCV000580536,580536,NM_001035.3(RYR2):c.12568G>A (p.Val4190Met),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,580536,580536,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237784189:G:T,RYR2,VCV000578246,578246,NM_001035.3(RYR2):c.12477G>T (p.Gln4159His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,578246,578246,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237792319:T:C,RYR2,VCV000575682,575682,NM_001035.3(RYR2):c.13778T>C (p.Leu4593Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,575682,575682,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237778753:C:G,RYR2,VCV000575059,575059,NM_001035.3(RYR2):c.11863C>G (p.Gln3955Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,575059,575059,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237633668:G:C,RYR2,VCV000571532,571532,NM_001035.3(RYR2):c.6646G>C (p.Asp2216His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,571532,571532,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237784251:G:T,RYR2,VCV000570194,570194,NM_001035.3(RYR2):c.12539G>T (p.Gly4180Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,570194,570194,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237791480:G:C,RYR2,VCV000568135,568135,NM_001035.3(RYR2):c.13528G>C (p.Ala4510Pro),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,568135,568135,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237819188:A:G,RYR2,VCV000566084,566084,NM_001035.3(RYR2):c.14586A>G (p.Ile4862Met),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,566084,566084,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237784261:AGAG:A,RYR2,VCV000560709,560709,NM_001035.3(RYR2):c.12550_12552del (p.Glu4184del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,560709,560709,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237628052:G:A,RYR2,VCV000532366,532366,NM_001035.3(RYR2):c.6412G>A (p.Glu2138Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,532366,532366,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237819187:T:C,RYR2,VCV000532324,532324,NM_001035.3(RYR2):c.14585T>C (p.Ile4862Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,532324,532324,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237441320:A:G,RYR2,VCV000520467,520467,NM_001035.3(RYR2):c.1007A>G (p.Glu336Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,520467,520467,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237639110:G:A,RYR2,VCV000519356,519356,NM_001035.3(RYR2):c.7024G>A (p.Gly2342Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519356,519356,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237639095:G:C,RYR2,VCV000463624,463624,NM_001035.3(RYR2):c.7009G>C (p.Gly2337Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463624,463624,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237377426:A:T,RYR2,VCV000463608,463608,NM_001035.3(RYR2):c.567A>T (p.Glu189Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463608,463608,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237377374:G:A,RYR2,VCV000463605,463605,NM_001035.3(RYR2):c.515G>A (p.Gly172Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463605,463605,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237819192:G:T,RYR2,VCV000463579,463579,NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463579,463579,Catecholaminergic polymorphic ventricular tachycardia 1|Squamous cell lung carcinoma,Catecholaminergic polymorphic ventricular tachycardia 1|Squamous cell lung carcinoma,Catecholaminergic polymorphic ventricular tachycardia 1|Squamous cell lung carcinoma,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237806236:A:G,RYR2,VCV000463577,463577,NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463577,463577,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237445428:G:A,RYR2,VCV000463549,463549,NM_001035.3(RYR2):c.1198G>A (p.Asp400Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463549,463549,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237808943:T:C,RYR2,VCV000452065,452065,NM_001035.3(RYR2):c.14341T>C (p.Tyr4781His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,452065,452065,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237639026:GAG:AAA,RYR2,VCV000450836,450836,NM_001035.3(RYR2):c.6940_6942delinsAAA (p.Glu2314Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,MNV_or_substitution,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,450836,450836,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237832607:G:A,RYR2,VCV000449306,449306,NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,449306,449306,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237783708:T:C,RYR2,VCV000427948,427948,NM_001035.3(RYR2):c.11996T>C (p.Met3999Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,427948,427948,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237377361:C:G,RYR2,VCV000427184,427184,NM_001035.3(RYR2):c.502C>G (p.Gln168Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,427184,427184,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237781598:A:G,RYR2,VCV000427164,427164,NM_001035.3(RYR2):c.11914A>G (p.Met3972Val),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,427164,427164,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237828390:T:C,RYR2,VCV000423597,423597,NM_001035.3(RYR2):c.14600T>C (p.Ile4867Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,423597,423597,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237784281:T:G,RYR2,VCV000420865,420865,NM_001035.3(RYR2):c.12569T>G (p.Val4190Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,420865,420865,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237783714:A:G,RYR2,VCV000418465,418465,NM_001035.3(RYR2):c.12002A>G (p.Asp4001Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418465,418465,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237638450:G:A,RYR2,VCV000404218,404218,NM_001035.3(RYR2):c.6886G>A (p.Glu2296Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,404218,404218,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237756342:C:T,RYR2,VCV000404208,404208,NM_001035.3(RYR2):c.11200C>T (p.Arg3734Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,404208,404208,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:237832592:A:G,RYR2,VCV000372588,372588,NM_001035.3(RYR2):c.14849A>G (p.Glu4950Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,372588,372588,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:237377365:G:T,RYR2,VCV000372582,372582,NM_001035.3(RYR2):c.506G>T (p.Arg169Leu),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,372582,372582,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:115702981:C:T,CASQ2,VCV004798117,4798117,NM_001232.4(CASQ2):c.954G>A (p.Trp318Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4798117,4798117,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:115740766:C:A,CASQ2,VCV004281696,4281696,NM_001232.4(CASQ2):c.382G>T (p.Glu128Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4281696,4281696,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:115732899:AC:A,CASQ2,VCV004219483,4219483,NM_001232.4(CASQ2):c.606+1del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4219483,4219483,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+1:115705283:TCGTAG:T,CASQ2,VCV003722584,3722584,NM_001232.4(CASQ2):c.843_847del (p.Tyr282fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3722584,3722584,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:115768370:C:A,CASQ2,VCV003722580,3722580,NM_001232.4(CASQ2):c.172G>T (p.Glu58Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3722580,3722580,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:115768496:AG:A,CASQ2,VCV003688556,3688556,NM_001232.4(CASQ2):c.45del (p.Ser16fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3688556,3688556,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:115738337:T:A,CASQ2,VCV003676998,3676998,NM_001232.4(CASQ2):c.421-2A>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3676998,3676998,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:115732915:TG:T,CASQ2,VCV003638681,3638681,NM_001232.4(CASQ2):c.591del (p.Thr198fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3638681,3638681,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:115732924:AT:A,CASQ2,VCV003623127,3623127,NM_001232.4(CASQ2):c.582del (p.Lys194fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3623127,3623127,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:115768540:A:T,CASQ2,VCV003575736,3575736,NM_001232.4(CASQ2):c.2T>A (p.Met1Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3575736,3575736,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:115768531:GTT:G,CASQ2,VCV003575685,3575685,NM_001232.4(CASQ2):c.9_10del (p.Arg3fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3575685,3575685,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:115732899:A:T,CASQ2,VCV003575384,3575384,NM_001232.4(CASQ2):c.606+2T>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3575384,3575384,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:115701253:ATCGTCATCACTGT:A,CASQ2,VCV003338342,3338342,NM_001232.4(CASQ2):c.1175_1187del (p.Asp392fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3338342,3338342,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:115732976:T:C,CASQ2,VCV003263466,3263466,NM_001232.4(CASQ2):c.533-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3263466,3263466,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:115725509:CA:C,CASQ2,VCV002822271,2822271,NM_001232.4(CASQ2):c.781del (p.Trp261fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2822271,2822271,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:115768337:G:A,CASQ2,VCV002806492,2806492,NM_001232.4(CASQ2):c.205C>T (p.Gln69Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2806492,2806492,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:115725536:AG:A,CASQ2,VCV002770074,2770074,NM_001232.4(CASQ2):c.754del (p.Leu252fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2770074,2770074,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:115740732:AAG:A,CASQ2,VCV002744443,2744443,NM_001232.4(CASQ2):c.414_415del (p.Leu139fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2744443,2744443,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:115701359:C:T,CASQ2,VCV002717451,2717451,NM_001232.4(CASQ2):c.1082G>A (p.Trp361Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2717451,2717451,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:115768510:AT:A,CASQ2,VCV002704628,2704628,NM_001232.4(CASQ2):c.31del (p.Ile11fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2704628,2704628,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:115744878:C:CTA,CASQ2,VCV002506578,2506578,NM_001232.4(CASQ2):c.268_269insTA (p.Gly90fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2506578,2506578,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:115727123:C:T,CASQ2,VCV002438853,2438853,NM_001232.4(CASQ2):c.607-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2438853,2438853,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:115744826:A:C,CASQ2,VCV002089290,2089290,NM_001232.4(CASQ2):c.319+2T>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2089290,2089290,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:115744885:C:CT,CASQ2,VCV001793918,1793918,NM_001232.4(CASQ2):c.261dup (p.Ala88fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5125,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1793918,1793918,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:115744827:C:T,CASQ2,VCV001324014,1324014,NM_001232.4(CASQ2):c.319+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1324014,1324014,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+1:115768540:A:G,CASQ2,VCV000452250,452250,NM_001232.4(CASQ2):c.2T>C (p.Met1Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,452250,452250,Wolff-Parkinson-White pattern|Catecholaminergic polymorphic ventricular tachycardia 1,Wolff-Parkinson-White pattern|Catecholaminergic polymorphic ventricular tachycardia 1,Wolff-Parkinson-White pattern|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+6:123548549:G:GT,TRDN,VCV004782180,4782180,NM_006073.4(TRDN):c.295dup (p.Thr99fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4782180,4782180,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+6:123503717:A:G,TRDN,VCV004714700,4714700,NM_006073.4(TRDN):c.793+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4714700,4714700,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+6:123516169:TA:T,TRDN,VCV004712099,4712099,NM_006073.4(TRDN):c.521del (p.Val174fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4712099,4712099,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+6:123337646:T:A,TRDN,VCV004077705,4077705,NM_006073.4(TRDN):c.1393A>T (p.Lys465Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4077705,4077705,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+6:123516208:T:A,TRDN,VCV003721374,3721374,NM_006073.4(TRDN):c.485-2A>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3721374,3721374,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+6:123571134:T:C,TRDN,VCV003669900,3669900,NM_006073.4(TRDN):c.23-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3669900,3669900,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+6:123548461:AG:A,TRDN,VCV003593000,3593000,NM_006073.4(TRDN):c.383del (p.Thr128fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3593000,3593000,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+6:123503894:CTTCTG:C,TRDN,VCV002920531,2920531,NC_000006.12:g.123503896TCTGT[1],Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,2920531,2920531,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,unanchored,0.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+6:123548510:TC:T,TRDN,VCV002818604,2818604,NM_006073.4(TRDN):c.334del (p.Asp112fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2818604,2818604,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+6:123503902:C:T,TRDN,VCV002730579,2730579,NM_006073.4(TRDN):c.611-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,2730579,2730579,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,unanchored,0.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+6:123548518:CA:C,TRDN,VCV002634568,2634568,NM_006073.4(TRDN):c.326del (p.Leu109fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2634568,2634568,TRDN-related disorder|Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,TRDN-related disorder|Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,TRDN-related disorder|Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+6:123530539:G:A,TRDN,VCV002018973,2018973,NM_006073.4(TRDN):c.451C>T (p.Gln151Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2018973,2018973,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+6:123636774:A:G,TRDN,VCV001798674,1798674,NM_006073.4(TRDN):c.2T>C (p.Met1Thr),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1798674,1798674,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+6:123548553:C:TT,TRDN,VCV001797791,1797791,NM_006073.4(TRDN):c.292delinsAA (p.Glu98fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1797791,1797791,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+6:123516157:TTC:T,TRDN,VCV001746830,1746830,NM_006073.4(TRDN):c.532_533del (p.Glu178fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1746830,1746830,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+6:123516183:C:A,TRDN,VCV001708485,1708485,NM_006073.4(TRDN):c.508G>T (p.Gly170Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1708485,1708485,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+6:123571063:AC:A,TRDN,VCV001458047,1458047,NM_006073.4(TRDN):c.91del (p.Val31fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1458047,1458047,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+6:123570921:A:T,TRDN,VCV000463677,463677,NM_006073.4(TRDN):c.232+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,463677,463677,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+6:123570988:A:G,TRDN,VCV000408740,408740,NM_006073.4(TRDN):c.167T>C (p.Leu56Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,408740,408740,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+6:123503893:TC:T,TRDN,VCV000408737,408737,NM_006073.4(TRDN):c.618del (p.Ala208fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,408737,408737,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+14:90404482:A:T,CALM1,VCV004787824,4787824,NM_006888.6(CALM1):c.389A>T (p.Asp130Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4787824,4787824,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,variation_id,,,,locus_or_regional_context,0.25,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+14:90403953:C:G,CALM1,VCV004785412,4785412,NM_006888.6(CALM1):c.270C>G (p.Phe90Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4785412,4785412,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,variation_id,,,,representation_repairable,0.45,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+14:90404491:G:T,CALM1,VCV003338336,3338336,NM_006888.6(CALM1):c.398G>T (p.Gly133Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3338336,3338336,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+14:90404379:G:T,CALM1,VCV002100843,2100843,NM_006888.6(CALM1):c.286G>T (p.Asp96Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2100843,2100843,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,variation_id,,,,locus_or_regional_context,0.25,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+14:90404488:A:G,CALM1,VCV001362982,1362982,NM_006888.6(CALM1):c.395A>G (p.Asp132Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1362982,1362982,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,variation_id,,,,locus_or_regional_context,0.25,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+14:90404689:A:T,CALM1,VCV000974613,974613,NM_006888.6(CALM1):c.422A>T (p.Glu141Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,974613,974613,Long QT syndrome 14,Long QT syndrome 14,Long QT syndrome 14,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+14:90404689:A:G,CALM1,VCV000974612,974612,NM_006888.6(CALM1):c.422A>G (p.Glu141Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,974612,974612,Long QT syndrome 14,Long QT syndrome 14,Long QT syndrome 14,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+14:90404693:C:A,CALM1,VCV000961658,961658,NM_006888.6(CALM1):c.426C>A (p.Phe142Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,961658,961658,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,variation_id,,,,representation_repairable,0.45,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+14:90404488:A:T,CALM1,VCV000948239,948239,NM_006888.6(CALM1):c.395A>T (p.Asp132Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,948239,948239,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,variation_id,,,,locus_or_regional_context,0.25,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+14:90404487:G:A,CALM1,VCV000639902,639902,NM_006888.6(CALM1):c.394G>A (p.Asp132Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,639902,639902,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,variation_id,,,,locus_or_regional_context,0.25,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+14:90404491:G:A,CALM1,VCV000542137,542137,NM_006888.6(CALM1):c.398G>A (p.Gly133Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,542137,542137,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,variation_id,,,,locus_or_regional_context,0.25,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+14:90404691:T:C,CALM1,VCV000426161,426161,NM_006888.6(CALM1):c.424T>C (p.Phe142Leu),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,426161,426161,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4|Cardiovascular phenotype,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4|Cardiovascular phenotype,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+14:90404512:A:T,CALM1,VCV000418107,418107,NM_006888.6(CALM1):c.419A>T (p.Glu140Val),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418107,418107,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+14:90404406:G:A,CALM1,VCV000388500,388500,NM_006888.6(CALM1):c.313G>A (p.Glu105Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,388500,388500,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+14:90401312:A:C,CALM1,VCV000384090,384090,NM_006888.6(CALM1):c.88A>C (p.Thr30Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,384090,384090,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+2:47162303:A:G,CALM2,VCV002734184,2734184,NM_001743.6(CALM2):c.268T>C (p.Phe90Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2734184,2734184,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+2:47161831:C:G,CALM2,VCV002500174,2500174,NM_001743.6(CALM2):c.313G>C (p.Glu105Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2500174,2500174,Long QT syndrome 15,Long QT syndrome 15,Long QT syndrome 15,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+2:47161750:C:A,CALM2,VCV001456260,1456260,NM_001743.6(CALM2):c.394G>T (p.Asp132Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1456260,1456260,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+2:47161756:C:T,CALM2,VCV001398892,1398892,NM_001743.6(CALM2):c.388G>A (p.Asp130Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1398892,1398892,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+2:47161804:C:T,CALM2,VCV001327459,1327459,NM_001743.6(CALM2):c.340G>A (p.Gly114Arg),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1327459,1327459,SUDDEN INFANT DEATH SYNDROME,SUDDEN INFANT DEATH SYNDROME,SUDDEN INFANT DEATH SYNDROME,variation_id,,,,locus_or_regional_context,0.25,SADS,assertion_condition_label,1,-0.0,SADS,SADS_genotype_first,0.35,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+2:47161747:C:T,CALM2,VCV001067140,1067140,NM_001743.6(CALM2):c.397G>A (p.Gly133Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1067140,1067140,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+2:47161749:T:C,CALM2,VCV000955533,955533,NM_001743.6(CALM2):c.395A>G (p.Asp132Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,955533,955533,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+2:47161755:T:C,CALM2,VCV000812710,812710,NM_001743.6(CALM2):c.389A>G (p.Asp130Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,812710,812710,Long QT syndrome 15|Long QT syndrome 1,Long QT syndrome 15|Long QT syndrome 1,Long QT syndrome 15|Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+2:47161858:C:A,CALM2,VCV000641544,641544,NM_001743.6(CALM2):c.286G>T (p.Asp96Tyr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,641544,641544,Long QT syndrome 1|Long QT syndrome 15,Long QT syndrome 1|Long QT syndrome 15,Long QT syndrome 1|Long QT syndrome 15,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+2:47160792:A:C,CALM2,VCV000576319,576319,NM_001743.6(CALM2):c.434T>G (p.Met145Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,576319,576319,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+2:47161730:G:C,CALM2,VCV000488476,488476,NM_001743.6(CALM2):c.414C>G (p.Asn138Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,488476,488476,Long QT syndrome 15,Long QT syndrome 15,Long QT syndrome 15,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+2:47161744:C:T,CALM2,VCV000448971,448971,NM_001743.6(CALM2):c.400G>A (p.Asp134Asn),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,448971,448971,Long QT syndrome 15|Long QT syndrome 1,Long QT syndrome 15|Long QT syndrome 1,Long QT syndrome 15|Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+19:46609129:T:G,CALM3,VCV002138308,2138308,NM_005184.4(CALM3):c.426T>G (p.Phe142Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2138308,2138308,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,strong,0.85,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+19:46608950:C:G,CALM3,VCV001358003,1358003,NM_005184.4(CALM3):c.390C>G (p.Asp130Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1358003,1358003,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,strong,0.85,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+19:46608981:G:A,CALM3,VCV000812678,812678,NM_005184.4(CALM3):c.421G>A (p.Glu141Lys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,812678,812678,Long QT syndrome 16|Long QT syndrome 1,Long QT syndrome 16|Long QT syndrome 1,Long QT syndrome 16|Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,strong,0.85,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+19:46608949:A:G,CALM3,VCV000812676,812676,NM_005184.4(CALM3):c.389A>G (p.Asp130Gly),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,812676,812676,Long QT syndrome 16,Long QT syndrome 16,Long QT syndrome 16,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,strong,0.85,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+19:46609125:A:G,CALM3,VCV000458198,458198,NM_005184.4(CALM3):c.422A>G (p.Glu141Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,458198,458198,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,strong,0.85,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+19:46608584:A:C,CALM3,VCV000409871,409871,NM_005184.4(CALM3):c.281A>C (p.Asp94Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,409871,409871,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,strong,0.85,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+19:46608846:G:C,CALM3,VCV000409870,409870,NM_005184.4(CALM3):c.286G>C (p.Asp96His),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,409870,409870,Long QT syndrome 1|Long QT syndrome 16,Long QT syndrome 1|Long QT syndrome 16,Long QT syndrome 1|Long QT syndrome 16,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,strong,0.85,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+19:46608955:A:G,CALM3,VCV000389576,389576,NM_005184.4(CALM3):c.395A>G (p.Asp132Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,389576,389576,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,strong,0.85,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state
+4:113332071:G:A,ANK2,VCV004796659,4796659,NM_001148.6(ANK2):c.3224+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4796659,4796659,,,,unmatched,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113343099:G:GT,ANK2,VCV004732021,4732021,NM_001148.6(ANK2):c.4212dup (p.Ala1405fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,4732021,4732021,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,unanchored,0.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113359191:G:T,ANK2,VCV004725226,4725226,NM_001148.6(ANK2):c.10573G>T (p.Glu3525Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4725226,4725226,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113357844:C:T,ANK2,VCV004721538,4721538,NM_001148.6(ANK2):c.9226C>T (p.Gln3076Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4721538,4721538,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113333098:AG:A,ANK2,VCV004708265,4708265,NM_001148.6(ANK2):c.3271del (p.Glu1091fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4708265,4708265,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113354062:CAG:C,ANK2,VCV004683080,4683080,NM_001148.6(ANK2):c.5450_5451del (p.Arg1817fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4683080,4683080,ANK2-associated seizure disorder,ANK2-associated seizure disorder,ANK2-associated seizure disorder,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113357838:C:T,ANK2,VCV004613600,4613600,NM_001148.6(ANK2):c.9220C>T (p.Gln3074Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4613600,4613600,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113357853:AC:A,ANK2,VCV004613598,4613598,NM_001148.6(ANK2):c.9239del (p.Pro3080fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4613598,4613598,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113348282:G:T,ANK2,VCV004531921,4531921,NM_001148.6(ANK2):c.4378G>T (p.Glu1460Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4531921,4531921,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113346023:G:A,ANK2,VCV004293673,4293673,NM_001148.6(ANK2):c.4371+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4293673,4293673,ANK2-related disorder,ANK2-related disorder,ANK2-related disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113356654:C:G,ANK2,VCV004292238,4292238,NM_001148.6(ANK2):c.8036C>G (p.Ser2679Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4292238,4292238,ANK-related Autism spectrum disorder and epilepsy,ANK-related Autism spectrum disorder and epilepsy,ANK-related Autism spectrum disorder and epilepsy,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113358882:G:T,ANK2,VCV004097147,4097147,NM_001148.6(ANK2):c.10264G>T (p.Glu3422Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4097147,4097147,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113357955:C:T,ANK2,VCV004097146,4097146,NM_001148.6(ANK2):c.9337C>T (p.Arg3113Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4097146,4097146,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113287648:T:G,ANK2,VCV004088107,4088107,NM_001148.6(ANK2):c.2123T>G (p.Val708Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4088107,4088107,,,,unmatched,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113355367:C:T,ANK2,VCV004075802,4075802,NM_001148.6(ANK2):c.6749C>T (p.Ser2250Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4075802,4075802,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113353201:AG:A,ANK2,VCV004075490,4075490,NM_001148.6(ANK2):c.4585del (p.Ala1529fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4075490,4075490,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113360821:A:G,ANK2,VCV004071961,4071961,NM_001148.6(ANK2):c.10682-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4071961,4071961,ANK2-associated disorder,ANK2-associated disorder,ANK2-associated disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113346022:G:A,ANK2,VCV004071958,4071958,NM_001148.6(ANK2):c.4371G>A (p.Lys1457=),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4071958,4071958,ANK2-associated disorder,ANK2-associated disorder,ANK2-associated disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113353828:T:A,ANK2,VCV004051668,4051668,NM_001148.6(ANK2):c.5210T>A (p.Leu1737Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4051668,4051668,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113317810:G:A,ANK2,VCV003898990,3898990,NM_001148.6(ANK2):c.2796+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3898990,3898990,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113353508:GAA:G,ANK2,VCV003897593,3897593,NM_001148.6(ANK2):c.4892_4893del (p.Lys1631fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3897593,3897593,"Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related",variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113335941:C:T,ANK2,VCV003772520,3772520,NM_001148.6(ANK2):c.3475C>T (p.Gln1159Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3772520,3772520,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113357857:CT:C,ANK2,VCV003729667,3729667,NM_001148.6(ANK2):c.9240del (p.Asp3081fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3729667,3729667,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113357939:AT:A,ANK2,VCV003654249,3654249,NM_001148.6(ANK2):c.9323del (p.Leu3108fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3654249,3654249,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113317795:AT:A,ANK2,VCV003632705,3632705,NM_001148.6(ANK2):c.2784del (p.Ser930fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3632705,3632705,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113353367:TGA:T,ANK2,VCV003540989,3540989,NM_001148.6(ANK2):c.4755_4756del (p.Gly1586fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,3540989,3540989,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,unanchored,0.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113330274:C:T,ANK2,VCV003540979,3540979,NM_001148.6(ANK2):c.2929C>T (p.Arg977Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3540979,3540979,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113335878:C:T,ANK2,VCV003390615,3390615,NM_001148.6(ANK2):c.3412C>T (p.Arg1138Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3390615,3390615,,,,unmatched,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113049789:CAG:C,ANK2,VCV003383192,3383192,NM_001148.6(ANK2):c.64_65del (p.Arg22fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3383192,3383192,"Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related",variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113358927:ATACT:A,ANK2,VCV003377103,3377103,NM_001148.6(ANK2):c.10313_10316del (p.Leu3438fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3377103,3377103,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113358157:ACTTACT:TGGATGATGAG,ANK2,VCV003376714,3376714,NM_001148.6(ANK2):c.9539_9545delinsTGGATGATGAG (p.Asp3180fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3376714,3376714,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113354861:T:TG,ANK2,VCV003376713,3376713,NM_001148.6(ANK2):c.6245dup (p.Gly2083fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3376713,3376713,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113354249:ACACT:A,ANK2,VCV003376711,3376711,NM_001148.6(ANK2):c.5635_5638del (p.Ser1879fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3376711,3376711,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113365182:G:A,ANK2,VCV003365181,3365181,NM_001148.6(ANK2):c.11032G>A (p.Gly3678Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3365181,3365181,,,,unmatched,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113354341:GC:G,ANK2,VCV003344952,3344952,NM_001148.6(ANK2):c.5724del (p.Thr1910fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3344952,3344952,ANK2-related disorder,ANK2-related disorder,ANK2-related disorder,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113343143:G:T,ANK2,VCV003340753,3340753,NM_001148.6(ANK2):c.4248+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3340753,3340753,,,,unmatched,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113360880:T:C,ANK2,VCV003338731,3338731,NM_001148.6(ANK2):c.10739T>C (p.Leu3580Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3338731,3338731,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113302840:G:A,ANK2,VCV003337796,3337796,NM_001148.6(ANK2):c.2548+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3337796,3337796,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113357732:TG:T,ANK2,VCV003119609,3119609,NM_001148.6(ANK2):c.9115del (p.Asp3039fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3119609,3119609,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113363349:G:T,ANK2,VCV003068471,3068471,NM_001148.6(ANK2):c.10768G>T (p.Glu3590Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3068471,3068471,ANK2-associated Neurodevelopmental Disorder,ANK2-associated Neurodevelopmental Disorder,ANK2-associated Neurodevelopmental Disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113354752:CAG:C,ANK2,VCV003030812,3030812,NM_001148.6(ANK2):c.6138_6139del (p.Asn2047fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3030812,3030812,ANK2-related disorder,ANK2-related disorder,ANK2-related disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113357778:GC:G,ANK2,VCV002861152,2861152,NM_001148.6(ANK2):c.9162del (p.Phe3055fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2861152,2861152,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113343096:TC:T,ANK2,VCV002672177,2672177,NM_001148.6(ANK2):c.4203del (p.Phe1401fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2672177,2672177,Complex neurodevelopmental disorder,Complex neurodevelopmental disorder,Complex neurodevelopmental disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113332043:T:TG,ANK2,VCV002576797,2576797,NM_001148.6(ANK2):c.3201dup (p.Pro1068fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2576797,2576797,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113330297:CAG:C,ANK2,VCV002575852,2575852,NM_001148.6(ANK2):c.2954_2955del (p.Arg985fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575852,2575852,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113373350:GC:TT,ANK2,VCV002565317,2565317,NM_001148.6(ANK2):c.11760_11761delinsTT (p.Gln3921Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2565317,2565317,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113292416:AACGGCTAC:A,ANK2,VCV002544521,2544521,NM_001148.6(ANK2):c.2282_2289del (p.Gly761fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2544521,2544521,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113255780:G:T,ANK2,VCV002506786,2506786,NM_001148.6(ANK2):c.1036G>T (p.Glu346Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2506786,2506786,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113355370:CAAAGA:C,ANK2,VCV002499788,2499788,NM_001148.6(ANK2):c.6757_6761del (p.Lys2252_Lys2253insTer),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2499788,2499788,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113357802:G:T,ANK2,VCV002430081,2430081,NM_001148.6(ANK2):c.9184G>T (p.Glu3062Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2430081,2430081,Autism spectrum disorder,Autism spectrum disorder,Autism spectrum disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113369632:C:T,ANK2,VCV002228433,2228433,NM_001148.6(ANK2):c.11437C>T (p.Gln3813Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2228433,2228433,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113174449:AGAGCAGGCAACCTGGACAAAGTTGTGGAATATCTGAAGGGGGGCATAGACATCAATACCTGCAATCAGGTAAGAACATGGCAGCTAGCTCTGTGTTGTGCAACGAAGGAACACTCATTACATTCTCAGAGCCCAAGATTATTTTTGTCTTTATTAAAAATACTAAAATATCAGTGACTCAGACTTCTGAAATCCCATTTTTTGCCCCCTTACCAACTTTTCAAGTATCAGATGTTTGTATCTA:GAGCTAATGTTGCTGAAAAATTAGCTCC,ANK2,VCV002121821,2121821,NM_001148.6(ANK2):c.118_186+175delinsGAGCTAATGTTGCTGAAAAATTAGCTCC,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2121821,2121821,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113358433:AT:A,ANK2,VCV002029441,2029441,NM_001148.6(ANK2):c.9817del (p.Ser3273fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2029441,2029441,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113333109:C:CT,ANK2,VCV001729746,1729746,NM_001148.6(ANK2):c.3281dup (p.Val1095fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1729746,1729746,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113242117:A:C,ANK2,VCV001695772,1695772,NM_001148.6(ANK2):c.799A>C (p.Ile267Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1695772,1695772,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113117420:T:C,ANK2,VCV001678114,1678114,NM_001148.6(ANK2):c.85-56996T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1678114,1678114,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113311281:G:T,ANK2,VCV001678112,1678112,NM_001148.6(ANK2):c.2575G>T (p.Gly859Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1678112,1678112,,,,unmatched,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113359094:G:GAC,ANK2,VCV001483377,1483377,NM_001148.6(ANK2):c.10480_10481dup (p.Gln3494fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1483377,1483377,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113311368:C:T,ANK2,VCV001334346,1334346,NM_001148.6(ANK2):c.2662C>T (p.Arg888Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1334346,1334346,,,,unmatched,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113353994:AGG:A,ANK2,VCV001317290,1317290,NM_001148.6(ANK2):c.5377_5378del (p.Gly1793fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1317290,1317290,,,,unmatched,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113330364:C:T,ANK2,VCV000985758,985758,NM_001148.6(ANK2):c.3019C>T (p.Arg1007Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,985758,985758,"Inborn genetic diseases|Cardiac arrhythmia, ankyrin-B-related","Inborn genetic diseases|Cardiac arrhythmia, ankyrin-B-related","Inborn genetic diseases|Cardiac arrhythmia, ankyrin-B-related",variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113288387:G:A,ANK2,VCV000985336,985336,NM_001148.6(ANK2):c.2179-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,985336,985336,Inborn genetic diseases,Inborn genetic diseases,Inborn genetic diseases,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113358977:CA:C,ANK2,VCV000985206,985206,NM_001148.6(ANK2):c.10360del (p.Arg3454fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,985206,985206,Inborn genetic diseases,Inborn genetic diseases,Inborn genetic diseases,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113358096:G:T,ANK2,VCV000954568,954568,NM_001148.6(ANK2):c.9478G>T (p.Glu3160Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,954568,954568,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+4:113335953:CTGAT:C,ANK2,VCV000818077,818077,NM_001148.6(ANK2):c.3490_3493del (p.Ile1164fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,818077,818077,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+17:70175686:A:G,KCNJ2,VCV004788797,4788797,NM_000891.3(KCNJ2):c.647A>G (p.Asn216Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4788797,4788797,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+17:70175387:CA:C,KCNJ2,VCV004784294,4784294,NM_000891.3(KCNJ2):c.351del (p.Glu118fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4784294,4784294,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+17:70175596:C:G,KCNJ2,VCV004783746,4783746,NM_000891.3(KCNJ2):c.557C>G (p.Pro186Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4783746,4783746,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+17:70176083:C:G,KCNJ2,VCV003755832,3755832,NM_000891.3(KCNJ2):c.1044C>G (p.Tyr348Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3755832,3755832,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,representation_repairable,0.45,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+17:70175308:T:G,KCNJ2,VCV003220886,3220886,NM_000891.3(KCNJ2):c.269T>G (p.Leu90Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3220886,3220886,Andersen Tawil syndrome,Andersen Tawil syndrome,Andersen Tawil syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+17:70175941:T:A,KCNJ2,VCV002682647,2682647,NM_000891.3(KCNJ2):c.902T>A (p.Met301Lys),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2682647,2682647,Short QT syndrome type 3,Short QT syndrome type 3,Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+17:70175271:G:A,KCNJ2,VCV002036326,2036326,NM_000891.3(KCNJ2):c.232G>A (p.Asp78Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2036326,2036326,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+17:70175263:C:A,KCNJ2,VCV002020840,2020840,NM_000891.3(KCNJ2):c.224C>A (p.Thr75Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2020840,2020840,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+17:70175464:C:T,KCNJ2,VCV001739158,1739158,NM_000891.3(KCNJ2):c.425C>T (p.Thr142Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1739158,1739158,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+17:70175685:A:T,KCNJ2,VCV001496231,1496231,NM_000891.3(KCNJ2):c.646A>T (p.Asn216Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1496231,1496231,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+17:70175676:C:G,KCNJ2,VCV000995608,995608,NM_000891.3(KCNJ2):c.637C>G (p.Arg213Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,995608,995608,,,,unmatched,,,,representation_repairable,0.45,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+17:70175977:GCTCTTA:G,KCNJ2,VCV000981438,981438,NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,981438,981438,Andersen Tawil syndrome|Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome|Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome|Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,representation_repairable,0.45,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+17:70175756:AG:A,KCNJ2,VCV000960380,960380,NM_000891.3(KCNJ2):c.721del (p.Glu241fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,960380,960380,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+17:70170729:ACTTGTTAGCGTTTTCCTGCTCACTTCCAAATGTTTCATTTCTATTTGCCATTATCTGGAAAAATCCTGGTGCTCAGAAGGGGTAAGAGATGTTAATTGAAGCATGGTGGAAAGGGTGAGGATAAGGTCAAGGCCATTTTACTTAGCTTCCTCCTCTCTCATATTTTAATGACACTTTATTTTTTAATGTTCTTGGTCTCCATAAGAAATATTTGATCTAAACTCATGTGAATTTTGCTTTTAAAAAAAATAAAAGAACACAGTCTTTCTACATCCTTTGGATTCCTGAGTTGTAGAATCTCTGGTTAGCTGTAGCGTCCTTGTATGACTTTTGCGTAGCCTGAAAGATTGAAAACAGCTACCTGCACAGATTAAGTGTTTCAGATTTTTTTAAGTGTATATTTTTATTTACCAAACATGTCTGTTTTTCAGCGTATGCAAATGCTGAGCAGTGCTACAAGCCAAGTGTCGTTGAGTATAAATGTTAGACAGGGGGCTCACACGTAGATAGATGGGTATCCCCCTCCCCTCCCCACTTCCCCCTCCTCCTCCCTCATGTTTATTGAGCTTCTAAGAGGCTGCTTTCCTAGCAGTTGTGCTCACATAGCAACATGTGCCCAGAGCACACTCAGGCTGTTCTATATGGCGTCAGCTGGGGAATAGCTGCTCTAAACACTCATTAGCAGACCTCTCTCTCAGCCCAGTACGTTTTCTTTTGCTATCTTTATTTCCTATCCTTAGAAACTTTCTTATTTATTGCACACCATGACCATATTACAGGACACATTTACTCTCATTTGATTTTTTTTTTTAGTTATTTATAAGCCATATTGGAAGTATTACCTATATAGTCAAAGCAATTTAGATCCCCCATTTGTACCATGTGATCTCCTTGACCTTACATTTATCCATAGCTCTTTCTCCTTTAACATCTACCTAAGTTTAAAACGCTGAACTATTTTTTTCCATTGCTTATGCTTAATTTTGGCTCAGCCTATAAATAGTCTTAACATGAACAGCACCACATGTAACCTCTCAATTTCCCAAAAATACTTTCTACATCATGGGTTATGGCCTGGATAAAAATGATTATTTGTGTCCATGAAATTTACATCTAGACCCTTAAATATTTTGGCTGGAAGGGAGATTTACACATTGTTCATCAAATCAAATTTCAATTCTCTGGATTTGTATCACTTAGTGTTCTCATCTACTCCTCATTGATTGCATCTCAAACATTATTTTGAATATATGCTTGAAATAAAGTTGCATGTAAGCCCTGTTTTTTTAATGATAGCTTTTCTCAGCTGCTCACGAATTGGTAATTGCTAGTGAGAGGACCGGGCAAGGAAGTTTTCTGCTTGCTTAAAGTCGCTCAGGCATGTGGGCAGGTTAACAGTAAAAGCAATTTTTACCATGAAATATTAAGACCGTTACCCCATCAAACCTTGACAGGTTCTAGACTTTAGCTATGTAATCAGCTCCACAAAAAGTCTGCATACATATATGTGTGTGCACCTGCATACACACATAAATCTGTTTGGGGGCATATCTATTTAAAGTGGCAAAAGTTTTCTTTTTGCCAAAAAAAAAAAAAAAAAAAAAAAAAGCCCAAAACTCCTCTTTTTCTCTTTCCAGGAAGAAATGGTAAAATTTCTAAATGATGCTCCACATGTGGAACAAATTCTGTTATTAGCAATGGAAATAAGACAATAATAGTCTCTCAATACAGGCTACTTTCAAGATTCTAAATGTGGAAAGCTATTCATAGGAAGCTGGTATTGTGTGATTTGTGGAATTCAAACAAATGTCCTGGGGTCAAGATTTTTGGAAAGTCATAATTCAGTCTTTAGATTTCATATGGTTGTTATGTTTTAATCTGGAAGGAGTACAGAAATAAGTCAGAAGAAATTTGAGACTGTCTACTCATGGCCCCTAATGGTAACTCACATGGAAGGATTGTTTTGAATCATGAAAAGGGAATTTCTTGGTGTCAGCTTATAATACAAAGTTCTGAAGTCAATCAGAACTCAAAAATACAAAGCATTCATTGAATGAAGTTCTTCTCCTTTTTTTGAAACGTATACCTGCGTTTGGTGTTGTTGCTGTCTCTGTCTGTTTAGTAATGTGAGAAAACTAAGATGAAATAATTGCTTAAAAAATGCTGTCCATGTACAGGATCTAGAACTTCGAGGGGCAGGATTCTTGTTTCTTTGGTCCAAGTGCAAACTTCACAGGGAAGCAGACAAAACATTGAAGCAGGTGGAAGGTTAGGAAAGCACAGTAACTTCTTTTTATAAAGTAATTCAAAGGCACTTTCAAACTGAGCATCATTTAGGTGTCAAAAGCTGCCAAAATGTAACACACATTGCAATTTTCAAAGATGACTAATCTCAGGAAAAATGTGTTGGGGCACATTCTTGCATAATAACTTGGATAAAGAAGAAGTCAAAAGACAGTAACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCACTATTCTATTTGTAGGTGGGAATCTGACTTTCTTCCTCTAGCATTTCGTCAGCCTATCCGGTCTGCTCAGTTATATCATTTAAACAAAATAGTCTGTCTTCCGATTTCAACCTTGCCATCAGGGACTCTAATATTCTCCCGTAATGCACATGCAACTCAGTGGATATCAATGCTGCGTCCACGTGAAGTTTTCTAAACATGTCCTTTTTCCAAAAATTTTACGACAAACCTTGGAATCAGACAGTCTTTCATCTGCTTAACAGGGATCCTAGCAAGTGGGGCAGGCAGAAGAAGAGAATAAGAGAAGGGAGAGGTAGACCTGAACAATAGAATATTCTAGATCCCTGGCCAAAAAGAAGGGAAAGGGGACCTGACCTGACATTTTGGTTGAACAACTGTCACAGACAACTCTTCTATGTTTAACGACTTTATGCTTTTAAATAAAAGTTTTACAAAGCATGCTTAGGATACAAAGAAATTTAAAACCTTATAATTTAATGTAAATTATACTTATCTTTACCTGATTATGTGTTTTTGTTAGGATATATTGTCTTAGACAGTAGAATTCTTTAAGAGTGGCTTATTTTGTAATGCACAGTCTCTCTTTTCTTGCAGGACATGTTCTCTGGATGTCAGCTGAGTCATTAAAGTAACTCTGCATGTCAGTAGACAGACCTTGGTAGAACCACAAGGCTCCCAGAGACACCCATCTCTCCTCATTTTTTTGGTGTGTGTGTCTTCACCGAACATTCAAAACTGTTTCTCCAAAGCGTTTTGCAAAAACTCAGACTGTTTTCCAAAGCAGAAGCACTGGAGTCCCCAGCAGAAGCGATGGGCAGTGTGCGAACCAACCGCTACAGCATCGTCTCTTCAGAAGAAGACGGTATGAAGTTGGCCACCATGGCAGTTGCAAATGGCTTTGGGAACGGGAAGAGTAAAGTCCACACCCGACAACAGTGCAGGAGCCGCTTTGTGAAGAAAGATGGCCACTGTAATGTTCAGTTCATCAATGTGGGTGAGAAGGGGCAACGGTACCTCGCAGACATCTTCACCACGTGTGTGGACATTCGCTGGCGGTGGATGCTGGTTATCTTCTGCCTGGCTTTCGTCCTGTCATGGCTGTTTTTTGGCTGTGTGTTTTGGTTGATAGCTCTGCTCCATGGGGACCTGGATGCATCCAAAGAGGGCAAAGCTTGTGTGTCCGAGGTCAACAGCTTCACGGCTGCCTTCCTCTTCTCCATTGAGACCCAGAC:A,KCNJ2,VCV000946743,946743,NM_000891.3(KCNJ2):c.-217+1029_422del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,946743,946743,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+17:70175473:A:G,KCNJ2,VCV000858285,858285,NM_000891.3(KCNJ2):c.434A>G (p.Tyr145Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,858285,858285,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+17:70175563:T:TCATTGG,KCNJ2,VCV000801410,801410,NM_000891.3(KCNJ2):c.526_531dup (p.Ile176_Gly177dup),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,801410,801410,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+17:70175935:A:G,KCNJ2,VCV000689769,689769,NM_000891.3(KCNJ2):c.896A>G (p.Glu299Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,689769,689769,"Andersen Tawil syndrome;Short QT syndrome type 3;Atrial fibrillation, familial, 9","Andersen Tawil syndrome;Short QT syndrome type 3;Atrial fibrillation, familial, 9","Andersen Tawil syndrome;Short QT syndrome type 3;Atrial fibrillation, familial, 9",variation_id,,,,locus_or_regional_context,0.25,SQTS|arrhythmia,assertion_condition_label,2,1.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+17:70175596:C:A,KCNJ2,VCV000652820,652820,NM_000891.3(KCNJ2):c.557C>A (p.Pro186Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,652820,652820,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+17:70176139:TC:T,KCNJ2,VCV000569363,569363,NM_000891.3(KCNJ2):c.1102del (p.Leu368fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,569363,569363,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+17:70175704:T:C,KCNJ2,VCV000546134,546134,NM_000891.3(KCNJ2):c.665T>C (p.Leu222Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,546134,546134,Andersen Tawil syndrome,Andersen Tawil syndrome,Andersen Tawil syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+17:70175194:G:T,KCNJ2,VCV000523694,523694,NM_000891.3(KCNJ2):c.155G>T (p.Gly52Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,523694,523694,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+17:70175692:G:C,KCNJ2,VCV000430545,430545,NM_000891.3(KCNJ2):c.653G>C (p.Arg218Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,430545,430545,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+17:70175604:A:G,KCNJ2,VCV000429589,429589,NM_000891.3(KCNJ2):c.565A>G (p.Arg189Gly),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,429589,429589,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+15:73323225:CTCCGGGAGTCCCAGGCCTCCCCGGGCCCCGGGTGGCGCGGGAGATGGCTGGGCAGCCTGCGGGGAGCGGGCGCCTGGCTGCAGCGGGGTGAGCAGGGGAGAGTCGGAGGAGGACAGGGAGCCACCCAGCGCCTTGTGGAAGTGGCCAAACCCGGCTATGGTGGTGGCGGCTACGCCAGCTGATGGTGTGGGAGCCGAGGGGGAGCCACAGGCCCCGGGGGGTGGGGAGGAGCTGGATGAGGGCAGGAGTGGGCTCAGTCCAGCGGGGGCAGAGAATCCAGCCAGCTGTTGGATGTGGAAGGAGGATGAAGACGGTGTGTCCACCTGGGACGGGCTGCTGGCGGGCGAGGCGGAGCCCAGCGCAGAAGGGATCAGGGACTGCAGCCGTTTCAGGTGCCTTGGCGTCTGCCCGGCACCGAGGTTGCCCAGCCCAGATCCTGGGGGAGGGCGGAAGATGGCAGCAGGCAGGCGAGGGTGGTGGGTGAGGGCTATGGCCACAGAAGTGGTGGCAGCGGCAGCCTGCAGTGGTGCCTGGATCAGCGGGGTCCAGATGACGGGCGTGGGGGTTGGGGTGGCAGAGGCAGCAGCCTGGACGCGGTGCGCGCAGTGGGCCATCTCCCGGTCATGCTGCACAATCTGCTGGATGATCTCATTCTCCTGGTAGTTGAAGACGCCGGAGTTGAGGTCGTGCTGGACTTTGTGGAGGAGGATGGAGTTCTTCTTGCCTGGGCCACAGAACAAGAACAGGCACTCAGGGCAGAGCGGGGAAGGAGATCAGGTGCAGACCTGGCTTAGGCATAAAGGAGCCCTGCCCTCCTCCCCCAACACCCCCCACCTGCCCCGCCTGTGGCCCCTCCCCCTCACCAATGCGGTCCAGGCGGTCCAGCGCCACGGTCTCGAAGGCCCTTCGCATCATGGGGTACTCCTCCAGCACCTCATTGAAGTTGTCCACGCTCAGCGAGTAGAGGCGGCAGTAGGTGTCGGCCCTCACGCTGGCTGTGCGCCGGCCCCGGGTCAGCAGGCAGATCTCTGCCAGAGCATCAGGACTCAGGATGAGGCATGCACAGCCTGCCCAGGCCAGGGGGACTGCCCACCCTGACCTTGGCCCTGACTGCCTGGCACAGAAGCCTTGGCAGGCTCACAAGGCCCTGCCCCCAGACTGCGGCCACACTGGATGCCTCTTCCCCACCAAATGGGGGCTGGACAGACTTTCCCATCTTTGGGACATACCCTCTGCTCTGGACTGAATGTGTTCCCCCAAAATTTATATGTTGAACCCCTAATCCCAGCATGATGGTATTTGGAGGTGGGGCCTAGGGAGGTGATTAGATCACGAGGGTGGAGCCCTCGTGGATGGAATTAGTGCCTTTTTAGGAGGAGGCCGGGGAGCTGGCTCATCCTCCTTCTGCCACATGAGGACACAGCGAGAAGTCAGCAGTGCAGCCCAGAAGAGGGCCCTCACCAGCCCCAACCATGCTGGCCCCCTCAGCTCAGATGGCCAGCCTCCAGAACCATGACACATACATTTCTGCAGTTTACAAGCCACCCAGTCTGCGGCACTTTTGTTACAAGAACCCAGACTGACTAAGACACCCCTACCCTGGGCTCACAGACACCTCCCTCCAGGCTGTGGCCAAGAAGGGTGCTCACTGCCTCTGTCCCCTCGGTATCTCCCCAAACCAGCCCCTGGGAGCAGCTGCCCTGTCCCCCAGGGCCCAGGGCTGCCTCACCTCCAAAGTAGGAGCCGTCGGCCAGCTTGGTCTCCTTGTTGCCCTTGGTGAGCACGCTGACCACGCCATGCTGGATGAAGTACATCTTCTTGCCAATGGTGCCTTCCCGGATGATGTAGTCCCCAGGCTGGAAGACCTCGAAACGCAGCTTGGTCAGCATGGACGTCACGAAGTTGGGGTCCGCATTGGCAAACAGTGGCATGGAGGCCACCAGCTTCCGACAGTTAAAGTTGATGATCTCCTGCCGGACAGGGTGGATTGGGACACGGGAAGGAGGTGGTGAGGGGAGCTGGCTGCCAGGAAGGCCTGGCTCCCCTCCACGCCGGGCCGCCACACAGCTCACCTCCCGCAGGGGCTCGCTTAGCTCGCCCAGGATGCTCTCCTCGTCGAACATCTTGCCCTGGTAGCGGTGCTCGTAGTAGTCGTGGATGCGCTGCCGGGTGTCGGGCGGGAGCTTGTGAAAGGACATGTACTGCTCCACCTGCTTGTACTGAGGCCGGGAGAAGGGGGCGTCAGCTCCACCCCACCAGGGGGCGTCAGCAGCCAGCCCCACCACCTCGGCAGGCACCACATCCGGGCACCCACCCCGGGGGATTTCCTGGCTAAACTTGGTTCCTTGAGATCTGAGGTCTACAGTGTGGAAATGACCTCACTGTGCTCAAAACAACTGCCCGGGCTCCCAGCTGCTTGGCATGGAGGAGGGGCCCCCACCAGCATCTGCTCCTCGCTGTGTTCAATACTAAGGAGGTGGGTGAGGGCGGCAGGGAATGTCCAAAGCCCAGTGACAGGACATCAACTGTATCTCCAGGGAGGTCGATCACATTTCCTTGGAATGTTACACTGGGGACAGGGAGGCCTCACCGACTCTGCGGGGAAAGAAGCTGTTTCCTCCCAGCAGTGACAACTGGCACAGTCAGGAGGCAAGGGTGCGATGGATCAGAACGCTCAGAGGCAGAAGCAAGGATGCCTGGCTGCTCGATGCTATGAATCCAAACGTGGCCTCAGCTGAGACCCCGGGTCATTTCGTTGAGAGCAACTCCAGGTAAGGGAAAAGCAGGGTAGACTAATTTGAGGGGACCTTCAAATAGAGGCTCGGGTACAAAAGATTTGTGAGCCTCAGACCCTGGGGCTCAAACAAATAAGAAACGATCCTGCCCGCCCTCACTGAGAGGAGTGGACATTGCTCCCACCATCCTAGATTGTGGGTGGACAGTGGGATTCCCAAGAGCAGGATGAGGGATGGGAGGTATTGATTAGGCAACAACACAGACTCCTCCCGGATGGGAAGTAGAGGAAGTCCCTATCACCCCAGCAGCAATCAGAAACGGGGCAGCCTGTTTGCATCTATGTGTGCTCCAAAGAGGTGGGAACGCACAACTGCTGCACAGAAACACCCACGGGCAAATGAGGGCTGAGAAATGACATTTCCTAAACTTCTTCCAGCCACCCTGGCCTCTGACTGCTCCAAGTTATGCAAAGTCCCAGGGGACAGTGACTTCCTGGCTGGTTACAGAGATGGAGGCAGCTGGAAAACCTGGAGCTGTGTTTTAGAGAGTCCCTCCCCTGACCCCCAGAGAACAGGTAGGGGTAGGGAGGCAGGGTCTGGACATGGGGCAGGAGTTAAAAGGTTGAAGTGGTCCAGGTGAGAGACAGACGTGGGGATGGAGAGGAGGGAAGACATTTAAGAGAAATTTATTGGGCAGACTTAGATATTAGCCAAAGGACAAACATTTTAAAGTCTCAAATGAAAAGCCACAGACGCCTTGACTCTGGCCCTAAAATAAACTCTGATGCATTTTCTTTTCTTTTTTTCTTTTTATTTATTTATTTATTTATTTATTTTTTTTGTTAAGACAGGGTCTCGTTGTGTTGCCTAGACTGGAGTGCAGTGATATGAACACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCGATTCTCCCATCTCAGCCTCCTAAACAGCTGGCACTATAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACAGGGTTTTGCCACGTTGCCCAGGCTGCTCTTGAACTCCTGGGCTCAAGAAATCAGCTCGCTTCAGCCTCTCAAAGTGCTGGGATTGCAGGCATGAGCCATCATGCCCAGCCTCCCAGACGCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGGGTGCAGTGGTGCAATCTTAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTGAGTAGCTGGGACTACAGGTGTGCACCACCACGCCCAGCTAATTTTTTTTTTACTTTTAGTAGGGATGAAGTT:C,HCN4,VCV004755562,4755562,NM_005477.3(HCN4):c.1591-1861_2867del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4755562,4755562,"Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant",variation_id,,,,representation_repairable,0.45,conduction,assertion_condition_label,1,-0.0,conduction,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+15:73329730:C:T,HCN4,VCV002636206,2636206,NM_005477.3(HCN4):c.1433G>A (p.Cys478Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2636206,2636206,HCN4-related disorder,HCN4-related disorder,HCN4-related disorder,variation_id,,,,locus_or_regional_context,0.25,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+15:73323574:G:GCGGA,HCN4,VCV002028837,2028837,NM_005477.3(HCN4):c.2515_2518dup (p.Ala840fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2028837,2028837,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+15:73325193:C:G,HCN4,VCV001697968,1697968,NM_005477.3(HCN4):c.1740G>C (p.Glu580Asp),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1697968,1697968,Left ventricular noncompaction cardiomyopathy,Left ventricular noncompaction cardiomyopathy,Left ventricular noncompaction cardiomyopathy,variation_id,,,,representation_repairable,0.45,cardiomyopathy_overlap,assertion_condition_label,1,-0.0,cardiomyopathy_overlap,structural_electrical,0.7,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+15:73329718:C:T,HCN4,VCV001675065,1675065,NM_005477.3(HCN4):c.1445G>A (p.Gly482Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1675065,1675065,Left ventricular noncompaction cardiomyopathy,Left ventricular noncompaction cardiomyopathy,Left ventricular noncompaction cardiomyopathy,variation_id,,,,locus_or_regional_context,0.25,cardiomyopathy_overlap,assertion_condition_label,1,-0.0,cardiomyopathy_overlap,structural_electrical,0.7,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+15:73343533:T:C,HCN4,VCV001359536,1359536,NM_005477.3(HCN4):c.1061A>G (p.Tyr354Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1359536,1359536,Brugada syndrome 8|HCN4-related disorder,Brugada syndrome 8|HCN4-related disorder,Brugada syndrome 8|HCN4-related disorder,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+15:73329692:C:G,HCN4,VCV000666148,666148,NM_005477.3(HCN4):c.1471G>C (p.Asp491His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,666148,666148,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+15:73324088:C:T,HCN4,VCV000470654,470654,NM_005477.3(HCN4):c.2143+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,470654,470654,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+15:73332261:G:C,HCN4,VCV000374861,374861,NM_005477.3(HCN4):c.1241C>G (p.Ala414Gly),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,374861,374861,"Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant",variation_id,,,,locus_or_regional_context,0.25,conduction,assertion_condition_label,1,-0.0,conduction,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+15:73329722:A:G,HCN4,VCV000374860,374860,NM_005477.3(HCN4):c.1441T>C (p.Tyr481His),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,374860,374860,"Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8||Cardiovascular phenotype","Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8||Cardiovascular phenotype","Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8||Cardiovascular phenotype",variation_id,,,,locus_or_regional_context,0.25,Brugada|conduction,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+15:73329719:C:G,HCN4,VCV000374859,374859,NM_005477.3(HCN4):c.1444G>C (p.Gly482Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,374859,374859,"Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8","Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8","Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8",variation_id,,,,unanchored,0.0,Brugada|conduction,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+15:73325000:T:TGGTGAGCACGCTG,HCN4,VCV000374858,374858,NM_005477.3(HCN4):c.1920_1932dup (p.Lys645fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,374858,374858,"Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant",variation_id,,,,locus_or_regional_context,0.25,conduction,assertion_condition_label,1,-0.0,conduction,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+12:2653892:G:A,CACNA1C,VCV004689845,4689845,NM_000719.7(CACNA1C):c.4132G>A (p.Gly1378Arg),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4689845,4689845,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2457652:GC:G,CACNA1C,VCV004613766,4613766,NM_000719.7(CACNA1C):c.704del (p.Ala235fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4613766,4613766,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2582847:C:T,CACNA1C,VCV004536255,4536255,NM_000719.7(CACNA1C):c.2129C>T (p.Ser710Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4536255,4536255,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2567737:C:G,CACNA1C,VCV004531394,4531394,NM_000719.7(CACNA1C):c.1838C>G (p.Pro613Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4531394,4531394,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2449015:G:C,CACNA1C,VCV004531392,4531392,NM_000719.7(CACNA1C):c.517G>C (p.Glu173Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4531392,4531392,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2666696:A:G,CACNA1C,VCV004530641,4530641,NM_000719.7(CACNA1C):c.4537A>G (p.Lys1513Glu),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4530641,4530641,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2567600:C:G,CACNA1C,VCV004292479,4292479,NM_000719.7(CACNA1C):c.1701C>G (p.Phe567Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4292479,4292479,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2651688:C:T,CACNA1C,VCV004278773,4278773,NM_000719.7(CACNA1C):c.3994C>T (p.Arg1332Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4278773,4278773,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2597290:G:T,CACNA1C,VCV004086502,4086502,NM_000719.7(CACNA1C):c.2853+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4086502,4086502,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2486121:A:T,CACNA1C,VCV003897582,3897582,NM_000719.7(CACNA1C):c.775A>T (p.Asn259Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3897582,3897582,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2593249:G:A,CACNA1C,VCV003894932,3894932,NM_000719.7(CACNA1C):c.2567G>A (p.Gly856Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894932,3894932,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2582943:G:C,CACNA1C,VCV003775665,3775665,NM_000719.7(CACNA1C):c.2224+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3775665,3775665,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2512930:G:C,CACNA1C,VCV003718454,3718454,NM_000719.7(CACNA1C):c.1336G>C (p.Asp446His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3718454,3718454,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2665673:TA:T,CACNA1C,VCV003600410,3600410,NM_000719.7(CACNA1C):c.4495del (p.Arg1499fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3600410,3600410,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2605112:C:T,CACNA1C,VCV003573697,3573697,NM_000719.7(CACNA1C):c.2992C>T (p.Arg998Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3573697,3573697,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2608531:ACT:A,CACNA1C,VCV003483968,3483968,NM_000719.7(CACNA1C):c.3379_3380del (p.Ser1127fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3483968,3483968,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2120345:TACTG:T,CACNA1C,VCV003483966,3483966,NM_000719.7(CACNA1C):c.396_399del (p.Thr133fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3483966,3483966,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2610590:TC:T,CACNA1C,VCV003393691,3393691,NM_000719.7(CACNA1C):c.3612del (p.Lys1205fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3393691,3393691,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2486140:T:A,CACNA1C,VCV003392514,3392514,NM_000719.7(CACNA1C):c.794T>A (p.Met265Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3392514,3392514,"Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8","Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8","Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2608641:G:A,CACNA1C,VCV003382973,3382973,NM_000719.7(CACNA1C):c.3487G>A (p.Gly1163Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3382973,3382973,Timothy syndrome;Brugada syndrome 3;Long QT syndrome 8,Timothy syndrome;Brugada syndrome 3;Long QT syndrome 8,Timothy syndrome;Brugada syndrome 3;Long QT syndrome 8,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2567731:T:C,CACNA1C,VCV003382740,3382740,NM_000719.7(CACNA1C):c.1832T>C (p.Met611Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3382740,3382740,"Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8","Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8","Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2653855:CCTGAT:C,CACNA1C,VCV003377227,3377227,NM_000719.7(CACNA1C):c.4097_4101del (p.Leu1366fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3377227,3377227,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2685745:C:A,CACNA1C,VCV003375805,3375805,NM_000719.7(CACNA1C):c.5583C>A (p.Tyr1861Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3375805,3375805,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2664838:G:A,CACNA1C,VCV003370332,3370332,NM_000719.7(CACNA1C):c.4246G>A (p.Glu1416Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3370332,3370332,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2448974:A:G,CACNA1C,VCV003252305,3252305,NM_000719.7(CACNA1C):c.478-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3252305,3252305,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2595960:T:G,CACNA1C,VCV003069192,3069192,NM_000719.7(CACNA1C):c.2750T>G (p.Leu917Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3069192,3069192,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2486134:A:T,CACNA1C,VCV003066281,3066281,NM_000719.7(CACNA1C):c.788A>T (p.Lys263Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3066281,3066281,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2457680:C:G,CACNA1C,VCV003027509,3027509,NM_000719.7(CACNA1C):c.731C>G (p.Pro244Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3027509,3027509,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2677138:C:T,CACNA1C,VCV002921274,2921274,NM_000719.7(CACNA1C):c.4873C>T (p.Gln1625Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2921274,2921274,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2688546:C:T,CACNA1C,VCV002626971,2626971,NM_000719.7(CACNA1C):c.5884C>T (p.Arg1962Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2626971,2626971,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2585498:T:G,CACNA1C,VCV002626927,2626927,NM_000719.7(CACNA1C):c.2460+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2626927,2626927,CACNA1C-related disorder,CACNA1C-related disorder,CACNA1C-related disorder,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2504884:G:GT,CACNA1C,VCV002584438,2584438,NM_000719.7(CACNA1C):c.1158dup (p.Thr387fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2584438,2584438,CACNA1C-related disorder,CACNA1C-related disorder,CACNA1C-related disorder,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2664824:G:A,CACNA1C,VCV002578446,2578446,NM_000719.7(CACNA1C):c.4233-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2578446,2578446,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2486109:C:T,CACNA1C,VCV002577479,2577479,NM_000719.7(CACNA1C):c.763C>T (p.Gln255Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2577479,2577479,Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies,Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies,Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2653860:T:C,CACNA1C,VCV002575833,2575833,NM_000719.7(CACNA1C):c.4100T>C (p.Ile1367Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575833,2575833,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2120351:CTA:C,CACNA1C,VCV002506866,2506866,NM_000719.7(CACNA1C):c.400_401del (p.Ile134fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2506866,2506866,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2486161:C:T,CACNA1C,VCV002504611,2504611,NM_000719.7(CACNA1C):c.815C>T (p.Ala272Val),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2504611,2504611,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2512827:G:C,CACNA1C,VCV002504609,2504609,NM_000719.7(CACNA1C):c.1233G>C (p.Glu411Asp),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2504609,2504609,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2582832:G:A,CACNA1C,VCV002501348,2501348,NM_000719.7(CACNA1C):c.2114G>A (p.Gly705Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2501348,2501348,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2608677:CAGGA:C,CACNA1C,VCV002452672,2452672,NM_000719.7(CACNA1C):c.3524_3527del (p.Gln1175fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2452672,2452672,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2679753:GC:G,CACNA1C,VCV002251969,2251969,NM_000719.7(CACNA1C):c.5403del (p.Ile1802fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2251969,2251969,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2486116:T:C,CACNA1C,VCV001803055,1803055,NM_000719.7(CACNA1C):c.770T>C (p.Val257Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1803055,1803055,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2677772:C:T,CACNA1C,VCV001744618,1744618,NM_000719.7(CACNA1C):c.4996C>T (p.Arg1666Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1744618,1744618,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2688554:G:GC,CACNA1C,VCV001712194,1712194,NM_000719.7(CACNA1C):c.5897dup (p.Gln1967fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1712194,1712194,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2655228:C:G,CACNA1C,VCV001705745,1705745,NM_000719.7(CACNA1C):c.4222C>G (p.Leu1408Val),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1705745,1705745,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2581663:C:T,CACNA1C,VCV001705744,1705744,NM_000719.7(CACNA1C):c.1969C>T (p.Leu657Phe),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1705744,1705744,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2665599:G:C,CACNA1C,VCV001700075,1700075,NM_000719.7(CACNA1C):c.4417G>C (p.Ala1473Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1700075,1700075,Neurodevelopmental delay|CACNA1C-related disorder,Neurodevelopmental delay|CACNA1C-related disorder,Neurodevelopmental delay|CACNA1C-related disorder,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2634334:T:G,CACNA1C,VCV001699326,1699326,NM_000719.7(CACNA1C):c.3866T>G (p.Leu1289Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1699326,1699326,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2504886:T:TA,CACNA1C,VCV001699036,1699036,NM_000719.7(CACNA1C):c.1159dup (p.Thr387fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1699036,1699036,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2610588:C:G,CACNA1C,VCV001695801,1695801,NM_000719.7(CACNA1C):c.3606C>G (p.Tyr1202Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1695801,1695801,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2567752:T:G,CACNA1C,VCV001685597,1685597,NM_000719.7(CACNA1C):c.1853T>G (p.Val618Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1685597,1685597,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2449093:G:A,CACNA1C,VCV001685596,1685596,NM_000719.7(CACNA1C):c.595G>A (p.Asp199Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1685596,1685596,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2504535:A:G,CACNA1C,VCV001344837,1344837,NM_001167623.2(CACNA1C):c.1213A>G (p.Ser405Gly),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1344837,1344837,Seizure,Seizure,Seizure,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2448994:T:C,CACNA1C,VCV001325838,1325838,NM_000719.7(CACNA1C):c.496T>C (p.Phe166Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1325838,1325838,Neurodevelopmental delay,Neurodevelopmental delay,Neurodevelopmental delay,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2677868:G:A,CACNA1C,VCV001313855,1313855,NM_000719.7(CACNA1C):c.5091+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1313855,1313855,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2608654:T:C,CACNA1C,VCV001309258,1309258,NM_000719.7(CACNA1C):c.3500T>C (p.Val1167Ala),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1309258,1309258,Timothy syndrome|Long QT syndrome,Timothy syndrome|Long QT syndrome,Timothy syndrome|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2608657:C:A,CACNA1C,VCV001303511,1303511,NM_000719.7(CACNA1C):c.3503C>A (p.Thr1168Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1303511,1303511,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2504529:G:A,CACNA1C,VCV001302971,1302971,NM_001167623.2(CACNA1C):c.1207G>A (p.Val403Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1302971,1302971,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2605121:C:T,CACNA1C,VCV001302480,1302480,NM_000719.7(CACNA1C):c.3001C>T (p.Arg1001Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1302480,1302480,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2651679:C:T,CACNA1C,VCV001214422,1214422,NM_000719.7(CACNA1C):c.3985C>T (p.Arg1329Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1214422,1214422,Hypotonia,Hypotonia,Hypotonia,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2653847:G:T,CACNA1C,VCV001164022,1164022,NM_000719.7(CACNA1C):c.4087G>T (p.Val1363Leu),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1164022,1164022,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2581667:T:C,CACNA1C,VCV000981247,981247,NM_000719.7(CACNA1C):c.1973T>C (p.Leu658Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,981247,981247,Intellectual disability,Intellectual disability,Intellectual disability,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2512849:G:C,CACNA1C,VCV000978295,978295,NM_000719.7(CACNA1C):c.1255G>C (p.Gly419Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,978295,978295,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2053592:TC:T,CACNA1C,VCV000978276,978276,NM_000719.7(CACNA1C):c.32del (p.Pro11fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,978276,978276,Conduction disorder of the heart,Conduction disorder of the heart,Conduction disorder of the heart,variation_id,,,,representation_repairable,0.45,conduction,assertion_condition_label,1,-0.0,conduction,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2457671:T:C,CACNA1C,VCV000973262,973262,NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,973262,973262,Timothy syndrome;Brugada syndrome 3,Timothy syndrome;Brugada syndrome 3,Timothy syndrome;Brugada syndrome 3,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2493386:G:A,CACNA1C,VCV000802809,802809,NM_000719.7(CACNA1C):c.1113G>A (p.Trp371Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,802809,802809,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2665607:C:G,CACNA1C,VCV000633648,633648,NM_000719.7(CACNA1C):c.4425C>G (p.Ile1475Met),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,633648,633648,Long QT syndrome 8,Long QT syndrome 8,Long QT syndrome 8,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2567644:C:A,CACNA1C,VCV000633647,633647,NM_000719.7(CACNA1C):c.1745C>A (p.Ala582Asp),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,633647,633647,Long QT syndrome 8,Long QT syndrome 8,Long QT syndrome 8,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2653847:G:C,CACNA1C,VCV000522828,522828,NM_000719.7(CACNA1C):c.4087G>C (p.Val1363Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,522828,522828,CACNA1C-related disorder,CACNA1C-related disorder,CACNA1C-related disorder,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2566522:A:G,CACNA1C,VCV000521136,521136,NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,521136,521136,Timothy syndrome|Cardiovascular phenotype,Timothy syndrome|Cardiovascular phenotype,Timothy syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2605097:G:C,CACNA1C,VCV000450908,450908,NM_000719.7(CACNA1C):c.2977G>C (p.Val993Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,450908,450908,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2653847:G:A,CACNA1C,VCV000450063,450063,NM_000719.7(CACNA1C):c.4087G>A (p.Val1363Met),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,450063,450063,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures|CACNA1C-related disorder","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures|CACNA1C-related disorder","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures|CACNA1C-related disorder",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+12:2610700:G:GA,CACNA1C,VCV000432248,432248,NM_000719.7(CACNA1C):c.3717+1_3717+2insA,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,432248,432248,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state
+7:82167142:AAGAAATATTGCACAGATGCACATTGTTAAATACCTTAAAAGATAAAAGAATTATAAAGTTTAAAAGAAGGACCTTTTGAAAGATGATAAAATTTATCTTCAAATTAACCATTTTTAAATGTTTGGTTAAAATATTGAGAAAATTTACAATTGTTTTGTGTGCTTTCACAAAACAAGAGATTTAATGTTAATGATTTATAAGTTTCAACCACGAATTTGAACTGTATTCTGCTCTGGTCTTGAAGGATTTATTTAACCTTGCTGTATCTGTGCACTAAAGCACCACCTAGTTTATTAGGAACAAAAAAAAAGCTGAGAGGAATGTATTATTTTTGTACTTTTTACTTATTTGAGTCTTAAGATTAGATAGTCTTCATTGAGGTTCTATTCTCCAAGCACAAAAACGACCACTATCTAAACCTTCTATCACTCTATGGCATTTCAAAGGGAAGGGCTATCATAAAGACTATGTATGGCTGCCAAGGTTAGATATGGGAAATAGCAATTCTCAATGTGCAAACTGTGACAGACCTGTGTCCTGTCAACATCATTCACGGTCCTTCAGGAAGGATGCTCAGGAAATGAGTTGACAGGACTCTAAGTGGTCTAACTTGTTTTCCCTTTAACAGTCTCTTTTGATGTCAATCAGTATGTCAACAGGCCCTAAATAAATTGTGAGGTAACCAAGGGGGAAATTAGGAACAGAATTTCTTCAAGAATTCTCCCACATGGTGACCACCATTTGCTAAGAATTCCTAATACTTACTGGGCAAATAATTCATTTTCTATTTCACCATAGAAGATTTAGTAATGGCTTTTGTATTATTGTGGGACTGATTTGTCCTCTTGCACAATGTTTTTTTAGCAGTACTGCTACTTGGATAGAGGCACCAAAAAAGTAGAAAATAAGGGTTACATTTCAAGATAATTTTTTTCACTTTTTGACATCTCTAAGAATACAGCATACAATTGCTGATGCATCATAATTTAAGTGGCTTTTTTGGTGGGGGCTTGGGGGAGATGAGGTCTCTCTCTGTTGCCCAGGCTGGAGTAGTACAGTGTCATGATCTTGGCTCACTGCACCCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTACCAAGTAGCTGGGATTACAGGCATGCACCACCACGCACAGCTAATTTTTGTATTTTTAGTGGAGATAGGGTTTCTCCATGTTGACAAGGCTGGTTTTGAACTTCTGGCCTAAAGTAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACCATGCCCGGCCAAGTGGCTTTTTCTTAGAAATAACTAAAATAAATAGAATGACTAAGTGCCTTACAATTGATGATTTACATTCAATAAAATATGGTAATAGCAAACTTGAATTTAGAGTTTTTGTATTGTGTTTGTGTTGTGGTTACCCATTACCTCAATATAGAAAACAAAATAATTGCCAAATGTTAGTGTTAATGAGCCCAATATTAAAGAGTTCACAATGTCTAGGAAATGAAACCTTATGTCTAGAAATTAATAAATAATAGTTAAATGAAACAACAATGATATAGGCATTACTACAACCCTACTTGCCAAGTTATTTTTTTCCACATTATTGCTCTTTAGAAAAGTGAAAACAACATACAACTAATAAATGACTACTTAAAATACTACCAAATGAATTTAAGGCAAAGAAAAAGGGTGCTTTGAACAGGGAATGTATAATCTATATATTTCAGAGGCTGAGTTTGTGTGTCTGTTTTGAGTTCTCCGAATTACTGAAGATTCAAACTAAAACAGCACCAAGGGTATTATATCTATGCTAGGCAGAATACATGATCTAGCCATACATCTATTATGACTTTACACTGCTTTTACCATGCACGCTTTATGTTGTGGGACATAAGGGAAGAGTAATTTATATTTAATGTTGTTAATCAAACATATATTTAGCTAGATTTGTTTTGCTGCTTTTTCCCTATTTGCAAAAACAAAAAAAATCGTTTTTATCTAAAAGCAACTAAGTATATTGTAAGCCTCTTCATTCACTAGATGAGCTTACAGTTTGCTCGATGCTCTAGGAGCTTATGTTTTTAGCTTAATCATTGATTTTTTCCTTAATATATCATGGATAGCAAATTGATCTTTATTAACCTGTGTATGATAAAGGTTGTAGACAAAGCCAATACCTACATAATATTAATACCAATCAAGTTAAGTGATATGATCAGTTCAGTAGAGAATCAAACAAACTGGCAGTTGTCAAATAGAGTCTCTCATTAGTAGACTGTTTAAAATATATAAATAAGTGATAAACAGTAAAAATAAATAATATCACAAGTATCAAGAATGGAAGACTATTATATACATGAATTAAATATCATTTAGTGCATTTTCCTTTGATATTCAACATAATCATAGAAACACAAAGAAGTGCTAATTCTTAAACCTCAGTTTAGTGTCTACTGAAGCACAACTACATACCTTCAAATTTGAGACTTTTGCTTTGCAAAGAGTACAATTAAGCTGTCGCTCACATTCTAAACCTATTTTAAATGTGGGAAGGTAGAGGGCAGTTGTTTACATCCCCAAAATGAGTTGTCTGGAAGTTTTCTGTGATCAGAAATTATAAAGATTTTCTTTCACTACAACTGTAATCACTCAAGTATGTAACAGAAGTACTTTCTGATTATTAAGGAATTTTTTTTTTTTTACTGTGCCCCTTGGCTATAAGAGGATAGATAAATGATAGATATGCAGACCTTACCACAAGGAGAATTTCTGCTATTTCTATAAACTAGTAACTCTTAGTTCATAAAACAAGTTTATTAAGAAAAAAAAAACATGCAACCGCTAATGTCAGCTGACATTTCTCAAAGTAGGCCAGAGTAGAAGAGAGATTACTTCTAGCTAAAGTGAAGCAAATTAAATTTTAAGAAGTTGAATATATTCATTCTCACTTTCATCATATTGCCCACCATCAAGGTGATTATAATATGTATACTGCTTCTTACAAACTCAAAGTAGTTAAAAGCAACTTTTTCCAACTTGTATATTCATAATATCGACAAAAATTATTCAGATATTAAAATTTAATGCTATTTTTAATGTATTTTATAAATAATGTACCTTTAATTATGGGAGAACATTTCAAGGGTTTTAAAGGGTTTTTTGGTTTTTGTTTTTTTTTGGTAATATGGAACATAAAGTACATTTTGGCTAACTTAATTGGCCCTGATTACCCAAAAGCAATTTATTTAAAAAGCAACAAGTATGATTATTTTTAATCCCACAACATCATAAGATTCCATCATTAAAATATATTTTAATATGCATGTAATTATCCATACACAATATGTCAAGCTATTTAAATCAAGTAGTTAAAAGGGGTTCTTACTGCAAAATCTTCTCTCCACTGGTGAGCTGCTTGAACTTTCTCCGCTTCCAATGCCAGGCGCTGAAAAACAAACAATAAATCTTAGAATTCAAATGAACACGTAATATGGAATTGTTATATAAAATGCTTGCGCTTTCTAATCAATTTTGAGGACATAAAAAGCAGAAGATGATCCTTATTTATGATTCATAAATTCTAAATCATTTAGTAATCTAACCTACTAAAGTTGATGTTTGTATATTTACTCTTCAGCAATATAAATAATATACTATTCTTGAATACCATTAAGTTTGTTACCTCTGCCATCATCAGCTATAGTGTCCTCTATGAGTGCTTTCTTTCAATGACTAATACTTCAGTTTTTAGAAAAACACTTAAGTATACTAATTTTCATAGAATCTTATTTTTAGTAAATACCTTTGGAGCATACATTTCTCTTAAAAAATGACATTGAGAGATTAATATGCACTAAACAATATACTAGGCACCTTCTTAAATGCATATTGAGTTTTTACCAAAAGCCACAAAAGCTGAAATAACTTCCCCTTTGATGAAGTACATCTTTAGTAGTTCTTTCAGCGATAATCTTTGATAGAGGATTTGTGCATCTTAAAATTGCTTTATTTCACCTTCAATCGTGTATGCTAAAGTAGTTAAGAATTATAAGCCAATTTATTTTCCTATAGCACTTTCGAAATGCTATTCCATTAAGTTCAGTGGGAGATGACATTGCTAGTGTCAGCCTGCCAATCACTTTTTATAAACTTTTTTTTCCCCTATTCCAATAGCTTTTAGACTTTTCTCTTTGTATTTTTCAACTTCACTATGATGTTCTCCATGTGATAGGCTTTCATAAGACAGTGACATTTAATGGTTAGGAACACAGAGTTGGGGACCCGACTGCCTAGATTTGAATATCAGCCCTTGCAAACTACTAGCTGTGCAACCTTGGGAAAAGTTAAGACTCTTCTCCCATTCTCTCATGTGAGTAATGTGAAAGCCTGCCTCATGGCTTATTGGAAGGACTAAATGAGTTACAAAGTGCTTAGAACAGTGCCTGGCACAAACTAAACAATATATATGTCAACTATCAACTTCAAAGAGTAATGGTTCTGTTTTCTCCCTGGATCCCCTAGAGAAAATAGTGCAGTGTTGAGTTTATTTGTGGTTTGCCTTATGCAGCTAGAAGATAGTGATAAAACTGAGCAAACAGAAAAGTAAATATAATAAATATACTAAACTCACTTATTAAGGTATAGAAATTATCAGGTTAGGTTTAAAAAATTACAAATCTCAGAGTCATTTATTGATTCATGCTGTTTGTGATCTATGAACTATTCCTTAGCGTAAGTTCTTCCTGTGGAGGTCCAGTCTACACTGGATAAACATCCTTCTAGACCAGTTTTTATATTAATGTATTGGCTTCTATCCCTGTGATTATAATCTATTCATTTTTCTAAGCTGTTGCATAGGTTTTATCAGTGACTCTATAATATTGCCTAGTGGGAGATCTCAATTTAAGAGTCCCAAAGCTAAATTTAAGTGAAAATCTATCATAGTGTGCCAAAAGGACAATGGTTTTGTTTTTCACTACTAGGTAGAAATGGAGTATATAAGAAGCTAGGAAATGTTAGAAATTGTACCACATAGAGTAACCAAAAGGCGGCTCCCTCTCCCTACAAAAACAAAAAACTAAGCAGCAAAGCCAAAAGACAAGCATATACATTTCAGGAACACTGCATCATAATACTTTTAGAAACTCAACTTCACATGAAAAATGAAGCAAAACATGAATAAAATGGCAAAAGGAATGGAAATGGAAGCAACTCTTCTATAGAAACACTTCAGTATGGGAAGATAAGGAAAGAGAAGATAGAATGAGAAAATAAGCATGAAGGCTTTTTCTTTTTTTCTTTGTTTTGATATAGGGTCTCACTCTGTCTCCCAGCCTGGAGTACAGTGGTGCAATCATAGCTCCCTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCTAAGTAGCTGGGACTACAGGTTTGCATCAAGAAACCCGGCTTTTTTTTTTTTTTTTTTTTTTTTGGTAAAGATGGGGTCTCAAACTCCTAGCCTCAAATTATCCTCCTATCTC:A,CACNA2D1,VCV004277370,4277370,NM_000722.4(CACNA2D1):c.295-2080_354+3407del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4277370,4277370,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,variation_id,,,,locus_or_regional_context,0.25,Brugada,gene_context_fallback,1,-0.0,Brugada,provocation_dependent,0.8,limited,0.25,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:82084801:C:T,CACNA2D1,VCV001802181,1802181,NM_000722.4(CACNA2D1):c.626G>A (p.Gly209Asp),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1802181,1802181,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,variation_id,,,,locus_or_regional_context,0.25,Brugada,gene_context_fallback,1,-0.0,Brugada,provocation_dependent,0.8,limited,0.25,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:82060485:T:TGTTC,CACNA2D1,VCV001802179,1802179,NM_000722.4(CACNA2D1):c.818_821dup (p.Ser275fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1802179,1802179,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,variation_id,,,,representation_repairable,0.45,Brugada,gene_context_fallback,1,-0.0,Brugada,provocation_dependent,0.8,limited,0.25,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
+7:91993050:C:T,AKAP9,VCV004687971,4687971,NM_005751.5(AKAP9):c.571C>T (p.Gln191Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4687971,4687971,Long QT syndrome 11,Long QT syndrome 11,Long QT syndrome 11,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,limited,0.25,dominant,scaffolding,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state
diff --git a/data/processed/cab_biological_regime_sensitivity.csv b/data/processed/cab_biological_regime_sensitivity.csv
new file mode 100644
index 0000000..94c7ec6
--- /dev/null
+++ b/data/processed/cab_biological_regime_sensitivity.csv
@@ -0,0 +1,12 @@
+scenario,description,n_assertions,disease_model_collision_n,disease_model_collision_percent,unanchored_assertion_state_n,unanchored_assertion_state_percent,collision_plus_unanchored_n,collision_plus_unanchored_percent,canonical_monogenic_n,canonical_monogenic_percent,collision_plus_unanchored_dominant,canonical_remains_minority,top_regime,top_regime_n,top_regime_percent
+baseline,Current CAB regime rules.,1731,963,55.63258232235702,643,37.14615829000578,1606,92.7787406123628,87,5.025996533795494,True,True,disease_model_collision,963,55.63258232235702
+ancestry_strict_ratio_20,Requires stronger popmax/global enrichment.,1731,963,55.63258232235702,643,37.14615829000578,1606,92.7787406123628,87,5.025996533795494,True,True,disease_model_collision,963,55.63258232235702
+ancestry_lenient_ratio_5,Allows weaker ancestry concentration.,1731,963,55.63258232235702,643,37.14615829000578,1606,92.7787406123628,87,5.025996533795494,True,True,disease_model_collision,963,55.63258232235702
+ancestry_min_popmax_1e_5,Requires higher absolute popmax AF.,1731,963,55.63258232235702,643,37.14615829000578,1606,92.7787406123628,87,5.025996533795494,True,True,disease_model_collision,963,55.63258232235702
+boundary_narrow_0p5log10,Narrow penetrance-boundary window.,1731,963,55.63258232235702,643,37.14615829000578,1606,92.7787406123628,92,5.314846909300982,True,True,disease_model_collision,963,55.63258232235702
+boundary_wide_1p5log10,Wide penetrance-boundary window.,1731,963,55.63258232235702,643,37.14615829000578,1606,92.7787406123628,58,3.3506643558636626,True,True,disease_model_collision,963,55.63258232235702
+canonical_lenient_validity_0p25,Allows limited gene-disease validity into canonical candidate set.,1731,963,55.63258232235702,643,37.14615829000578,1606,92.7787406123628,88,5.083766608896592,True,True,disease_model_collision,963,55.63258232235702
+canonical_strict_validity_0p85,Requires strong/definitive-like gene-disease validity.,1731,963,55.63258232235702,643,37.14615829000578,1606,92.7787406123628,85,4.910456383593298,True,True,disease_model_collision,963,55.63258232235702
+canonical_lenient_anchor_0p45,Allows representation-repairable alleles into canonical candidate set.,1731,963,55.63258232235702,286,16.522241478913923,1249,72.15482380127094,444,25.64991334488735,True,False,disease_model_collision,963,55.63258232235702
+collision_no_gene_fallback,Removes collision-prone gene fallback and uses only condition entropy/count.,1731,775,44.771808203350666,793,45.81166955517042,1568,90.58347775852108,107,6.1813980358174465,True,True,unanchored_assertion_state,793,45.81166955517042
+canonical_can_coexist_with_collision,Tests whether canonical calls reappear if collision is not exclusionary.,1731,963,55.63258232235702,643,37.14615829000578,1606,92.7787406123628,87,5.025996533795494,True,True,disease_model_collision,963,55.63258232235702
diff --git a/data/processed/cab_biological_regime_sensitivity_long.csv b/data/processed/cab_biological_regime_sensitivity_long.csv
new file mode 100644
index 0000000..18123d0
--- /dev/null
+++ b/data/processed/cab_biological_regime_sensitivity_long.csv
@@ -0,0 +1,66 @@
+scenario,description,primary_regime,n_assertions,percent
+baseline,Current CAB regime rules.,disease_model_collision,963,55.63258232235702
+baseline,Current CAB regime rules.,unanchored_assertion_state,643,37.14615829000578
+baseline,Current CAB regime rules.,canonical_monogenic,87,5.025996533795494
+baseline,Current CAB regime rules.,ancestry_concentrated,29,1.6753321779318313
+baseline,Current CAB regime rules.,penetrance_boundary,8,0.4621606008087811
+baseline,Current CAB regime rules.,unknown_or_insufficient,1,0.057770075101097634
+ancestry_strict_ratio_20,Requires stronger popmax/global enrichment.,disease_model_collision,963,55.63258232235702
+ancestry_strict_ratio_20,Requires stronger popmax/global enrichment.,unanchored_assertion_state,643,37.14615829000578
+ancestry_strict_ratio_20,Requires stronger popmax/global enrichment.,canonical_monogenic,87,5.025996533795494
+ancestry_strict_ratio_20,Requires stronger popmax/global enrichment.,penetrance_boundary,24,1.3864818024263432
+ancestry_strict_ratio_20,Requires stronger popmax/global enrichment.,ancestry_concentrated,13,0.7510109763142692
+ancestry_strict_ratio_20,Requires stronger popmax/global enrichment.,unknown_or_insufficient,1,0.057770075101097634
+ancestry_lenient_ratio_5,Allows weaker ancestry concentration.,disease_model_collision,963,55.63258232235702
+ancestry_lenient_ratio_5,Allows weaker ancestry concentration.,unanchored_assertion_state,643,37.14615829000578
+ancestry_lenient_ratio_5,Allows weaker ancestry concentration.,canonical_monogenic,87,5.025996533795494
+ancestry_lenient_ratio_5,Allows weaker ancestry concentration.,ancestry_concentrated,31,1.7908723281340266
+ancestry_lenient_ratio_5,Allows weaker ancestry concentration.,penetrance_boundary,6,0.3466204506065858
+ancestry_lenient_ratio_5,Allows weaker ancestry concentration.,unknown_or_insufficient,1,0.057770075101097634
+ancestry_min_popmax_1e_5,Requires higher absolute popmax AF.,disease_model_collision,963,55.63258232235702
+ancestry_min_popmax_1e_5,Requires higher absolute popmax AF.,unanchored_assertion_state,643,37.14615829000578
+ancestry_min_popmax_1e_5,Requires higher absolute popmax AF.,canonical_monogenic,87,5.025996533795494
+ancestry_min_popmax_1e_5,Requires higher absolute popmax AF.,ancestry_concentrated,29,1.6753321779318313
+ancestry_min_popmax_1e_5,Requires higher absolute popmax AF.,penetrance_boundary,8,0.4621606008087811
+ancestry_min_popmax_1e_5,Requires higher absolute popmax AF.,unknown_or_insufficient,1,0.057770075101097634
+boundary_narrow_0p5log10,Narrow penetrance-boundary window.,disease_model_collision,963,55.63258232235702
+boundary_narrow_0p5log10,Narrow penetrance-boundary window.,unanchored_assertion_state,643,37.14615829000578
+boundary_narrow_0p5log10,Narrow penetrance-boundary window.,canonical_monogenic,92,5.314846909300982
+boundary_narrow_0p5log10,Narrow penetrance-boundary window.,ancestry_concentrated,29,1.6753321779318313
+boundary_narrow_0p5log10,Narrow penetrance-boundary window.,penetrance_boundary,3,0.1733102253032929
+boundary_narrow_0p5log10,Narrow penetrance-boundary window.,unknown_or_insufficient,1,0.057770075101097634
+boundary_wide_1p5log10,Wide penetrance-boundary window.,disease_model_collision,963,55.63258232235702
+boundary_wide_1p5log10,Wide penetrance-boundary window.,unanchored_assertion_state,643,37.14615829000578
+boundary_wide_1p5log10,Wide penetrance-boundary window.,canonical_monogenic,58,3.3506643558636626
+boundary_wide_1p5log10,Wide penetrance-boundary window.,penetrance_boundary,38,2.19526285384171
+boundary_wide_1p5log10,Wide penetrance-boundary window.,ancestry_concentrated,29,1.6753321779318313
+canonical_lenient_validity_0p25,Allows limited gene-disease validity into canonical candidate set.,disease_model_collision,963,55.63258232235702
+canonical_lenient_validity_0p25,Allows limited gene-disease validity into canonical candidate set.,unanchored_assertion_state,643,37.14615829000578
+canonical_lenient_validity_0p25,Allows limited gene-disease validity into canonical candidate set.,canonical_monogenic,88,5.083766608896592
+canonical_lenient_validity_0p25,Allows limited gene-disease validity into canonical candidate set.,ancestry_concentrated,29,1.6753321779318313
+canonical_lenient_validity_0p25,Allows limited gene-disease validity into canonical candidate set.,penetrance_boundary,8,0.4621606008087811
+canonical_strict_validity_0p85,Requires strong/definitive-like gene-disease validity.,disease_model_collision,963,55.63258232235702
+canonical_strict_validity_0p85,Requires strong/definitive-like gene-disease validity.,unanchored_assertion_state,643,37.14615829000578
+canonical_strict_validity_0p85,Requires strong/definitive-like gene-disease validity.,canonical_monogenic,85,4.910456383593298
+canonical_strict_validity_0p85,Requires strong/definitive-like gene-disease validity.,ancestry_concentrated,29,1.6753321779318313
+canonical_strict_validity_0p85,Requires strong/definitive-like gene-disease validity.,penetrance_boundary,8,0.4621606008087811
+canonical_strict_validity_0p85,Requires strong/definitive-like gene-disease validity.,unknown_or_insufficient,3,0.1733102253032929
+canonical_lenient_anchor_0p45,Allows representation-repairable alleles into canonical candidate set.,disease_model_collision,963,55.63258232235702
+canonical_lenient_anchor_0p45,Allows representation-repairable alleles into canonical candidate set.,canonical_monogenic,444,25.64991334488735
+canonical_lenient_anchor_0p45,Allows representation-repairable alleles into canonical candidate set.,unanchored_assertion_state,286,16.522241478913923
+canonical_lenient_anchor_0p45,Allows representation-repairable alleles into canonical candidate set.,ancestry_concentrated,29,1.6753321779318313
+canonical_lenient_anchor_0p45,Allows representation-repairable alleles into canonical candidate set.,penetrance_boundary,8,0.4621606008087811
+canonical_lenient_anchor_0p45,Allows representation-repairable alleles into canonical candidate set.,unknown_or_insufficient,1,0.057770075101097634
+collision_no_gene_fallback,Removes collision-prone gene fallback and uses only condition entropy/count.,unanchored_assertion_state,793,45.81166955517042
+collision_no_gene_fallback,Removes collision-prone gene fallback and uses only condition entropy/count.,disease_model_collision,775,44.771808203350666
+collision_no_gene_fallback,Removes collision-prone gene fallback and uses only condition entropy/count.,canonical_monogenic,107,6.1813980358174465
+collision_no_gene_fallback,Removes collision-prone gene fallback and uses only condition entropy/count.,ancestry_concentrated,41,2.368573079145003
+collision_no_gene_fallback,Removes collision-prone gene fallback and uses only condition entropy/count.,penetrance_boundary,13,0.7510109763142692
+collision_no_gene_fallback,Removes collision-prone gene fallback and uses only condition entropy/count.,unknown_or_insufficient,1,0.057770075101097634
+collision_no_gene_fallback,Removes collision-prone gene fallback and uses only condition entropy/count.,sads_sensitive,1,0.057770075101097634
+canonical_can_coexist_with_collision,Tests whether canonical calls reappear if collision is not exclusionary.,disease_model_collision,963,55.63258232235702
+canonical_can_coexist_with_collision,Tests whether canonical calls reappear if collision is not exclusionary.,unanchored_assertion_state,643,37.14615829000578
+canonical_can_coexist_with_collision,Tests whether canonical calls reappear if collision is not exclusionary.,canonical_monogenic,87,5.025996533795494
+canonical_can_coexist_with_collision,Tests whether canonical calls reappear if collision is not exclusionary.,ancestry_concentrated,29,1.6753321779318313
+canonical_can_coexist_with_collision,Tests whether canonical calls reappear if collision is not exclusionary.,penetrance_boundary,8,0.4621606008087811
+canonical_can_coexist_with_collision,Tests whether canonical calls reappear if collision is not exclusionary.,unknown_or_insufficient,1,0.057770075101097634
diff --git a/data/processed/cab_biological_regime_summary.csv b/data/processed/cab_biological_regime_summary.csv
index 602ee30..518a7b9 100644
--- a/data/processed/cab_biological_regime_summary.csv
+++ b/data/processed/cab_biological_regime_summary.csv
@@ -1,7 +1,7 @@
 primary_regime,n_assertions,percent,n_genes,median_global_af,median_popmax_af,median_popmax_global_ratio,median_condition_entropy,median_gene_disease_validity_score,fraction_ancestry_concentrated,fraction_penetrance_boundary,fraction_sads_label,dominant_phenotype_environment
-disease_model_collision,947,54.70826112073946,11,0.0,0.0,1.3146359698624628,1.0,1.0,0.05174234424498416,0.05279831045406547,0.7697993664202746,provocation_dependent
-unanchored_assertion_state,650,37.55054881571346,5,0.0,0.0,,0.0,1.0,0.0,0.0,0.0,ECG_visible
-canonical_monogenic,92,5.314846909300982,3,0.0,0.0,1.0,0.0,1.0,0.0,0.0,0.0,ECG_visible
-ancestry_concentrated,32,1.8486424032351243,4,1.2317234846745057e-06,2.5196533532935653e-05,21.349203364989183,0.0,1.0,1.0,1.0,0.0,ECG_visible
-penetrance_boundary,9,0.5199306759098787,3,3.5673706872718e-06,7.97089897247866e-06,1.4927950545584636,0.0,1.0,0.0,1.0,0.0,ECG_visible
+disease_model_collision,963,55.63258232235702,13,0.0,0.0,1.3146276697246606,1.0,1.0,0.05399792315680166,0.056074766355140186,0.32191069574247144,provocation_dependent
+unanchored_assertion_state,643,37.14615829000578,7,0.0,0.0,,0.0,1.0,0.0,0.0,0.0,ECG_visible
+canonical_monogenic,87,5.025996533795494,4,0.0,0.0,1.0,0.0,1.0,0.0,0.0,0.0,ECG_visible
+ancestry_concentrated,29,1.6753321779318313,5,1.3682454851319603e-06,2.5192724341210258e-05,18.40963463110593,0.0,1.0,1.0,1.0,0.0,ECG_visible
+penetrance_boundary,8,0.4621606008087811,4,2.814422760472438e-06,1.0240788138803646e-05,2.25231074024802,0.0,1.0,0.0,1.0,0.0,ECG_visible
 unknown_or_insufficient,1,0.057770075101097634,1,6.870028675499691e-07,9.019003039404024e-07,1.3128038232984225,0.0,0.25,0.0,0.0,0.0,provocation_dependent
diff --git a/data/processed/cab_biological_regime_validation.csv b/data/processed/cab_biological_regime_validation.csv
index b242622..b76ba54 100644
--- a/data/processed/cab_biological_regime_validation.csv
+++ b/data/processed/cab_biological_regime_validation.csv
@@ -1,7 +1,7 @@
 regime,n_in_regime,median_popmax_global_ratio_in,median_popmax_global_ratio_out,median_condition_entropy_in,median_condition_entropy_out,median_validity_score_in,median_validity_score_out,sads_label_fraction_in,sads_label_fraction_out
-canonical_monogenic,132,1.2696389895520963,1.3146359698624628,0.0,1.0,1.0,1.0,0.0,0.45590994371482174
-ancestry_concentrated,81,24.206523452964174,1.299805806439304,1.0,1.0,1.0,1.0,0.43209876543209874,0.4206060606060606
-penetrance_boundary,92,18.127673842298876,1.292500195982875,1.0,1.0,1.0,1.0,0.33695652173913043,0.425869432580842
-disease_model_collision,947,1.3146359698624628,1.2845172854730285,1.0,0.0,1.0,1.0,0.7697993664202746,0.0
-sads_sensitive,729,1.3146382309816362,1.3134481466749075,2.0,0.0,1.0,1.0,1.0,0.0
-unanchored_assertion_state,1397,,1.314531396274846,1.0,1.0,1.0,1.0,0.4108804581245526,0.46407185628742514
+canonical_monogenic,123,1.2800648600031863,1.3146276697246606,0.0,0.0,1.0,1.0,0.0,0.1927860696517413
+ancestry_concentrated,81,24.206523452964174,1.299805806439304,0.0,0.0,1.0,1.0,0.09876543209876543,0.18303030303030304
+penetrance_boundary,92,18.127673842298876,1.292500195982875,0.0,0.0,1.0,1.0,0.10869565217391304,0.18303843807199513
+disease_model_collision,963,1.3146276697246606,1.2889697109428708,1.0,0.0,1.0,1.0,0.32191069574247144,0.0
+sads_sensitive,310,1.3143795770110511,1.3145913397741669,2.0,0.0,1.0,1.0,1.0,0.0
+unanchored_assertion_state,1397,,1.314531396274846,0.0,1.0,1.0,1.0,0.19327129563350035,0.11976047904191617
diff --git a/data/processed/cab_biological_state_features.csv b/data/processed/cab_biological_state_features.csv
index e478783..c7c447f 100644
--- a/data/processed/cab_biological_state_features.csv
+++ b/data/processed/cab_biological_state_features.csv
@@ -1,1732 +1,1732 @@
-variant_key,gene,clinvar_id,variation_id,title,clinsig,review_status,review_strength,review_score,submitter_count,submitter_count_source,match_category,frequency_evidence_status,variant_type,functional_class,global_af,global_ac,global_an,popmax_af,popmax_ac,popmax_population,popmax_global_ratio,max_frequency_signal,max_frequency_source,qualifying_frequency_ac,standard_acmg_frequency_flag,standard_acmg_high_frequency_flag,popmax_only_frequency_flag,frequency_signal_ac_ge_20,weak_review_signal,gene_frequency_constraint_proxy,technical_detectability_index,frequency_pressure_score,ac_reliability_score,popmax_enrichment_score,variant_type_tension_score,technical_detectability_score,gene_constraint_score,review_fragility_score,vital_score,vital_band,vital_red_flag,predicted_revision_direction,vital_signal_reason,log10_global_af,log10_popmax_af,log10_popmax_global_ratio,allele_anchoring_state,allele_identity_score,condition_groups,condition_context_source,condition_count,condition_entropy,condition_group_primary,phenotype_environment,phenotype_detectability_score,curation_tier,gene_disease_validity_score,inheritance_model,mechanism_class,sads_gene_context_flag,collision_prone_gene_flag,sads_label_flag,sads_relevance_score,ancestry_concentrated_flag,max_credible_af,af_boundary_distance,penetrance_boundary_flag,hard_dominant_conflict_flag,disease_model_collision_flag
-3:38562456:G:A,SCN5A,VCV000440850,440850,NM_000335.4(SCN5A):c.[3919C>T;694G>A],Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,other_or_unresolved,0.0001464876505434,214.0,1460874.0,0.0056763862332695,190.0,afr,38.74992993923283,0.0056763862332695,popmax,214.0,True,True,False,True,True,0.6637931034482759,0.811340206185567,45.0,20.0,7.941354608142989,0.0,6.490721649484536,6.637931034482759,10.0,96.07000729211028,red_reclassification_priority,True,P/LP_to_VUS_or_B_review_recommended,popmax_AF_gt_1e-4; global_AF_gt_1e-5; AC_ge_20; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-3.8341989864151462,-2.24592806189834,1.5882709216285977,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,1.75407193810166,False,True,True
-6:123438063:CT:C,TRDN,VCV001325231,1325231,NM_006073.4(TRDN):c.1050del (p.Glu351fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.774748677138568e-05,40.0,1441572.0,0.0002182135583357,9.0,amr,7.864263645544536,0.0002182135583357,popmax,40.0,True,True,False,True,True,0.390625,0.6043553875236295,30.124838998003188,20.0,4.478290322877946,3.0,4.834843100189036,3.90625,8.0,74.34422242107016,red_reclassification_priority,True,P/LP_to_VUS_or_B_review_recommended,popmax_AF_gt_1e-4; global_AF_gt_1e-5; AC_ge_20; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,-4.556776346982672,-3.6611182687456405,0.8956580645755892,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-0.6611182687456405,True,False,True
-7:150950166:A:C,KCNH2,VCV004535537,4535537,NM_000238.4(KCNH2):c.2398+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.367018818211924e-05,24.0,549574.0,0.0001315270288044,2.0,asj,3.0118264259375755,0.0001315270288044,popmax,24.0,True,True,False,True,True,0.8263888888888888,0.811340206185567,25.177837788340284,20.0,2.3941496974878667,0.0,6.490721649484536,8.26388888888889,8.0,70.32659802420157,red_reclassification_priority,True,P/LP_to_VUS_or_B_review_recommended,popmax_AF_gt_1e-4; global_AF_gt_1e-5; AC_ge_20; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,-4.3598149366273224,-3.880984990486817,0.47882993949757335,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,0.7210750008411452,True,False,False
-10:18514531:G:T,CACNB2,VCV003774534,3774534,NM_201596.3(CACNB2):c.804+162G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,1.1632028310988434e-05,17.0,1461482.0,0.0001970877388239,17.0,sas,16.943538788860945,0.0001970877388239,popmax,17.0,True,True,False,False,True,0.25,0.811340206185567,29.129841204685352,18.987357242520268,6.145020606115558,0.0,6.490721649484536,2.5,8.0,71.25294070280572,orange_high_tension,False,,popmax_AF_gt_1e-4; global_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.25; detectability=0.81,-4.934344549462075,-3.7053403931064324,1.2290041212231118,anchored_exact,1.0,Brugada,gene_context_fallback,1,-0.0,Brugada,provocation_dependent,0.8,limited,0.25,dominant,channelopathy,True,False,False,0.5,True,0.0001,0.2946596068935677,True,False,False
-6:123547340:CT:C,TRDN,VCV001074440,1074440,NM_006073.4(TRDN):c.423del (p.Glu142fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.4587780046988007e-05,19.0,1302460.0,0.0001336541031809,3.0,amr,9.162058557802116,0.0001336541031809,popmax,19.0,True,True,False,False,False,0.390625,0.6043553875236295,25.33460173620717,19.67948888426708,4.809965315856219,3.0,4.834843100189036,3.90625,3.0,64.5651490365195,yellow_watchlist,False,,popmax_AF_gt_1e-4; global_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,-4.8360107935553724,-3.874017703862406,0.9619930631712437,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-0.8740177038624062,True,False,True
-1:115701413:C:T,CASQ2,VCV002565185,2565185,NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.425131422292673e-06,5.0,1459798.0,0.0001495662578522,5.0,afr,43.667292358899566,0.0001495662578522,popmax,5.0,True,True,True,False,False,0.5125,0.811340206185567,26.43375668955885,11.770381108229664,8.200781319116079,0.0,6.490721649484536,5.125,3.0,61.02064076638913,yellow_watchlist,False,,popmax_AF_gt_1e-4; type=SNV; gene_constraint=0.51; detectability=0.81,-5.46532275997258,-3.8251663722566325,1.6401562638232159,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,True,0.001,-0.8251663722566326,True,False,True
-7:150950197:A:G,KCNH2,VCV001027323,1027323,NM_000238.4(KCNH2):c.2369T>C (p.Leu790Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,7.213041178450639e-06,9.0,1247740.0,0.0002143163309044,1.0,mid,29.71233587745845,0.0002143163309044,popmax,1.0,True,True,True,False,False,0.8263888888888888,0.811340206185567,29.94874352029472,4.55340497393906,7.364683979114753,0.0,6.490721649484536,8.26388888888889,3.0,59.62144301172195,yellow_watchlist,False,,popmax_AF_gt_1e-4; type=SNV; gene_constraint=0.83; detectability=0.81,-5.141881588463915,-3.668944734457764,1.4729367958229507,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,0.33105526554223597,True,False,False
-6:123529317:C:T,TRDN,VCV002635811,2635811,NM_006073.4(TRDN):c.484+1189G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,5.012186774127951e-06,7.0,1396596.0,0.000112101339611,4.0,amr,22.36575037943466,0.000112101339611,popmax,4.0,True,True,True,False,True,0.390625,0.811340206185567,23.616243142180487,10.57267893638896,6.747917367491054,0.0,6.490721649484536,3.90625,8.0,59.33381109554504,yellow_watchlist,False,,popmax_AF_gt_1e-4; weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,-5.299972753826775,-3.950389197554991,1.3495834734982108,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,True,0.001,-0.9503891975549911,True,False,True
-7:150948439:CTCA:C,KCNH2,VCV003076015,3076015,NM_000238.4(KCNH2):c.2692+2_2692+4del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,2.7727944499746288e-06,4.0,1442588.0,6.611424541607899e-05,3.0,fin,23.84389602799007,6.611424541607899e-05,popmax,3.0,True,False,True,False,True,0.8263888888888888,0.6043553875236295,18.456638672735043,9.10680994787812,6.886886097038535,3.0,4.834843100189036,8.26388888888889,8.0,58.54906670672962,yellow_watchlist,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,-5.557082323913123,-4.179704954447291,1.377377219407707,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.17970495444729126,True,False,False
-1:115705205:TC:T,CASQ2,VCV001766367,1766367,NM_001232.4(CASQ2):c.925del (p.Asp309fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.84958717538094e-07,1.0,1459942.0,0.0001734906315058,1.0,mid,253.28589121907208,0.0001734906315058,popmax,1.0,True,True,True,False,False,0.5125,0.6043553875236295,27.88371068312418,4.55340497393906,10.0,3.0,4.834843100189036,5.125,3.0,58.39695875725227,yellow_watchlist,False,,popmax_AF_gt_1e-4; type=deletion; gene_constraint=0.51; detectability=0.60,-6.164335602647249,-3.760723972142199,2.403610998964032,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,True,0.001,-0.7607239721421987,True,False,True
-11:2587679:AG:A,KCNQ1,VCV001395670,1395670,NM_000218.3(KCNQ1):c.1239del (p.Lys414fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.737022748764577e-06,4.0,1461442.0,8.944543828264758e-05,4.0,amr,32.67981847911294,8.944543828264758e-05,popmax,4.0,True,False,True,False,False,0.6403508771929824,0.6043553875236295,21.410059529362677,10.57267893638896,7.571398177836384,3.0,4.834843100189036,6.4035087719298245,3.0,56.79248851570687,yellow_watchlist,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.64; detectability=0.60,-5.562721592936289,-4.048441803550404,1.5142796355672767,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.048441803550404505,True,False,False
-6:123516188:TC:T,TRDN,VCV002682850,2682850,NM_006073.4(TRDN):c.502del (p.Glu168fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.751489341268484e-06,5.0,1332804.0,6.617783307303386e-05,5.0,sas,17.64041169053291,6.617783307303386e-05,popmax,5.0,True,False,True,False,True,0.390625,0.6043553875236295,18.46603235431506,11.770381108229664,6.232543582221728,3.0,4.834843100189036,3.90625,8.0,56.21005014495549,yellow_watchlist,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,-5.425796283129546,-4.179287457481868,1.2465087164443456,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.1792874574818677,False,False,True
-6:123516150:C:A,TRDN,VCV001427034,1427034,NM_006073.4(TRDN):c.541G>T (p.Glu181Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.79663424697027e-05,91.0,1338898.0,8.552347090760583e-05,89.0,nfe,1.2583209209383106,8.552347090760583e-05,popmax,91.0,True,False,False,True,False,0.390625,0.811340206185567,20.9719197711187,20.0,0.4989570863816855,0.0,6.490721649484536,3.90625,3.0,54.86784850698492,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.39; detectability=0.81,-4.167706100505352,-4.067914681917243,0.0997914172763371,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.0679146819172425,False,False,True
-3:38580945:C:A,SCN5A,VCV003075756,3075756,NM_000335.5(SCN5A):c.3214G>T (p.Glu1072Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.068392073370004e-06,3.0,1450402.0,6.006366748753679e-05,2.0,afr,29.03880759457191,6.006366748753679e-05,popmax,2.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,17.518766713295044,7.216976134290603,7.314893895930626,0.0,6.490721649484536,6.637931034482759,8.0,53.17928942748357,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-5.684367135229046,-4.221388153306345,1.4629787791861253,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.2213881533063446,True,False,True
-6:123636725:T:C,TRDN,VCV001070395,1070395,NM_006073.4(TRDN):c.22+29A>G,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,5.278376069899409e-05,77.0,1458782.0,6.756756756756757e-05,75.0,nfe,1.2800824797762609,6.756756756756757e-05,popmax,77.0,True,False,False,True,False,0.390625,0.811340206185567,18.66911154823352,20.0,0.5361897676051981,0.0,6.490721649484536,3.90625,3.0,52.60227296532325,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.39; detectability=0.81,-4.277499670716243,-4.1702617153949575,0.10723795352103971,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.1702617153949573,False,False,True
-1:115768378:T:C,CASQ2,VCV000427946,427946,NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,3.078341745187184e-05,45.0,1461826.0,4.9675453702477146e-05,3.0,remaining,1.6137081974876168,4.9675453702477146e-05,popmax,45.0,True,False,False,True,False,0.5125,0.811340206185567,15.663191649724624,20.0,1.0391250259135152,0.0,6.490721649484536,5.125,3.0,51.31803832512267,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.51; detectability=0.81,-4.5116831681918965,-4.303858157643766,0.20782500518270305,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.3038581576437651,False,False,True
-11:2768920:G:A,KCNQ1,VCV000871731,871731,NM_000218.3(KCNQ1):c.1590+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.053657975586114e-06,3.0,1460808.0,6.709308046696784e-05,3.0,amr,32.6700208089902,6.709308046696784e-05,popmax,3.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,18.600249121064188,9.10680994787812,7.570747055485044,0.0,6.490721649484536,6.4035087719298245,3.0,51.172036545841706,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,-5.687471883856611,-4.17332226775905,1.5141494110970088,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.17332226775905044,True,False,False
-6:123636745:TAGCAATACCTTC:T,TRDN,VCV002051520,2051520,NM_006073.4(TRDN):c.19_22+8del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,1.3703867642564762e-06,2.0,1459442.0,5.052801778586226e-05,2.0,eas,36.871329490654766,5.052801778586226e-05,popmax,2.0,True,False,True,False,True,0.390625,0.6043553875236295,15.829476070387653,7.216976134290603,7.833443987467161,3.0,4.834843100189036,3.90625,8.0,50.62098929233445,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,-5.863156844612114,-4.296467738800115,1.5666887974934323,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.2964677388001153,False,False,True
-12:2651596:CT:C,CACNA1C,VCV002632714,2632714,NM_000719.7(CACNA1C):c.3946-43del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,2.0525170701003e-06,3.0,1461620.0,3.747423646243208e-05,2.0,fin,18.257689424678656,3.747423646243208e-05,popmax,2.0,True,False,True,False,True,0.7307692307692307,0.6043553875236295,12.908988100114692,7.216976134290603,6.307229075847438,3.0,4.834843100189036,7.3076923076923075,8.0,49.57572871813407,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.73; detectability=0.60,-5.687713222311061,-4.426267207139606,1.2614458151694876,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,True,0.0001,-0.42626720713960625,True,False,True
-1:115705191:C:A,CASQ2,VCV000519365,519365,NM_001232.4(CASQ2):c.939+1G>T,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.1733855056306896e-05,46.0,1449556.0,4.178991663820107e-05,46.0,nfe,1.316887477023001,4.178991663820107e-05,popmax,46.0,True,False,False,True,False,0.5125,0.811340206185567,13.974109092309089,20.0,0.5977433387582941,0.0,6.490721649484536,5.125,3.0,49.18757408055192,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.51; detectability=0.81,-4.498477166223447,-4.37892849517859,0.11954866775165883,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.3789284951785896,False,False,True
-1:115705294:T:C,CASQ2,VCV001523438,1523438,NM_001232.4(CASQ2):c.839-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3783198556623447e-06,2.0,1451042.0,4.473272198613286e-05,2.0,amr,32.45450636719618,4.473272198613286e-05,popmax,2.0,True,False,True,False,True,0.5125,0.811340206185567,14.639070048853554,7.216976134290603,7.556375039507466,0.0,6.490721649484536,5.125,8.0,49.02814287213616,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-5.860649987486544,-4.349374674204051,1.5112750079014932,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.3493746742040507,False,False,True
-3:38608210:AT:A,SCN5A,VCV004756593,4756593,NM_000335.5(SCN5A):c.938del (p.Asn313fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.876056334154334e-07,1.0,1454322.0,3.8337678270203954e-05,1.0,asj,55.75524930551588,3.8337678270203954e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.6043553875236295,13.13158094533609,4.55340497393906,8.731428810358667,3.0,4.834843100189036,6.637931034482759,8.0,48.88918886430561,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,-6.162660573882579,-4.4163741915354215,1.7462857620717334,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.41637419153542204,True,False,True
-1:115768444:C:T,CASQ2,VCV000862119,862119,NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.0267488613355128e-05,15.0,1460922.0,3.827311696264544e-05,1.0,asj,3.727602306299179,3.827311696264544e-05,popmax,15.0,True,False,False,False,False,0.5125,0.811340206185567,13.115111488979696,18.21361989575624,2.857147858816272,0.0,6.490721649484536,5.125,3.0,48.80160089303674,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,-4.9885357701066235,-4.417106167392593,0.5714295717632544,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.4171061673925929,False,False,True
-11:2570686:G:C,KCNQ1,VCV000378906,378906,NM_000218.3(KCNQ1):c.536G>C (p.Gly179Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.054848002893226e-06,3.0,1459962.0,3.8743171516020304e-05,2.0,fin,18.854510701988296,3.8743171516020304e-05,popmax,2.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,13.234391558868406,7.216976134290603,6.377076332028593,0.0,6.490721649484536,6.4035087719298245,8.0,47.72267444660197,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,-5.687220297362662,-4.411804830815424,1.2754152664057186,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.41180483081542335,True,False,False
-11:2445144:GGT:G,KCNQ1,VCV002744490,2744490,NM_000218.3(KCNQ1):c.47_48del (p.Gly16fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.0193098049448758e-06,1.0,981056.0,3.807493146512336e-05,1.0,sas,37.35360429852644,3.807493146512336e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,13.064380687913092,4.55340497393906,7.861662569102269,3.0,4.834843100189036,6.4035087719298245,8.0,47.71780010307328,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,-5.991693798202426,-4.419360869721284,1.5723325138204538,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.4193608697212837,True,False,False
-4:113355492:C:T,ANK2,VCV004081881,4081881,NM_001148.6(ANK2):c.6874C>T (p.Arg2292Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,LOF,1.3682492293336216e-06,2.0,1461722.0,3.8267258533598655e-05,1.0,asj,27.96802712924517,3.8267258533598655e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,13.113615641202188,4.55340497393906,7.233309161120902,0.0,6.490721649484536,6.136363636363637,10.0,47.52741506211032,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-5.863834787801755,-4.4171726495177746,1.4466618322241802,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.41717264951777494,True,False,True
-1:115740767:G:A,CASQ2,VCV000801535,801535,NM_001232.4(CASQ2):c.381C>T (p.Gly127=),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,other_or_unresolved,8.897357347985227e-06,13.0,1461108.0,6.707807888382076e-05,3.0,amr,7.5391006251884125,6.707807888382076e-05,popmax,3.0,True,False,True,False,False,0.5125,0.811340206185567,18.59806400383485,9.10680994787812,4.386597699630847,0.0,6.490721649484536,5.125,3.0,46.70719330082835,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,-5.050738966345133,-4.173419384081802,0.8773195399261694,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.1734193840818021,False,False,True
-6:123571097:T:TAAAA,TRDN,VCV001749169,1749169,NM_006073.4(TRDN):c.57_58insTTTT (p.Lys20delinsPheTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,1.573551204040332e-05,23.0,1461662.0,2.9870362626202283e-05,1.0,afr,1.898277072346201,2.9870362626202283e-05,popmax,23.0,True,False,False,True,False,0.390625,0.5866666666666666,10.692911463985178,20.0,1.391798011501853,3.0,4.6933333333333325,3.90625,3.0,46.684292808820366,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=insertion; gene_constraint=0.39; detectability=0.59,-4.8031191203895585,-4.524759505028858,0.2783596023003706,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.524759505028858,False,False,True
-15:73343470:C:T,HCN4,VCV001514023,1514023,NM_005477.3(HCN4):c.1124G>A (p.Arg375His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0521436008006096e-06,3.0,1461886.0,3.744056310606911e-05,2.0,fin,18.24460327574495,3.744056310606911e-05,popmax,2.0,True,False,True,False,True,0.5,0.811340206185567,12.900203628834737,7.216976134290603,6.305672120901788,0.0,6.490721649484536,5.0,8.0,45.91357353351166,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,-5.687792252306214,-4.426657628095805,1.2611344241803575,anchored_exact,1.0,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,True,0.0001,-0.4266576280958051,True,False,True
-7:150947326:A:G,KCNH2,VCV000373047,373047,NM_000238.4(KCNH2):c.3152+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.203770165153635e-07,1.0,1388162.0,2.8064660978895374e-05,1.0,amr,38.95824322159453,2.8064660978895374e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.811340206185567,10.083595855158398,4.55340497393906,7.952996823120984,0.0,6.490721649484536,8.26388888888889,8.0,45.34460819059187,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,-6.1424401517100575,-4.551840199689963,1.590599364624197,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.551840199689963,True,False,False
-3:38575364:T:TG,SCN5A,VCV000924057,924057,NM_000335.5(SCN5A):c.3595dup (p.His1199fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.851933821282381e-07,1.0,1459442.0,3.832592365476008e-05,1.0,asj,55.9343824970053,3.832592365476008e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.382680412371134,13.128584433326132,4.55340497393906,8.738394239650557,6.0,3.0614432989690723,6.637931034482759,3.0,45.11975798036759,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.66; detectability=0.38,-6.164186840276095,-4.41650736985045,1.7476788479301115,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.41650736985045006,True,False,True
-11:2572072:G:GGA,KCNQ1,VCV001455898,1455898,NM_000218.3(KCNQ1):c.745_746dup (p.Leu250fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.84671706763324e-07,1.0,1460554.0,3.828190797029324e-05,1.0,asj,55.91271361066016,3.828190797029324e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.382680412371134,13.117355690081434,4.55340497393906,8.737552851879759,6.0,3.0614432989690723,6.4035087719298245,3.0,44.87326558679914,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.64; detectability=0.38,-6.16451761846019,-4.417006425118799,1.747510570375952,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.41700642511879876,True,False,False
-3:38608150:C:A,SCN5A,VCV002452890,2452890,NM_000335.5(SCN5A):c.998+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.903779266846257e-07,1.0,1448482.0,3.0111412225233363e-05,1.0,afr,43.61577687464475,3.0111412225233363e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,10.77145062355202,4.55340497393906,8.198218062193659,0.0,6.490721649484536,6.637931034482759,8.0,44.65172634365204,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-6.160913102681482,-4.521268875598385,1.6396436124387317,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.5212688755983852,True,False,True
-6:123512325:T:TG,TRDN,VCV003673082,3673082,NM_006073.4(TRDN):c.587dup (p.Glu197fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.1833916893360138e-05,16.0,1352046.0,1.5570594154409688e-05,16.0,nfe,1.3157599448231894,1.5570594154409688e-05,popmax,16.0,True,False,False,False,True,0.390625,0.382680412371134,4.3268672904939125,18.61187363214038,0.5958833060079006,6.0,3.0614432989690723,3.90625,8.0,44.50231752761127,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,-4.92687148498987,-4.807694814981124,0.11917666120158012,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.8076948149811245,False,False,True
-11:2572900:T:A,KCNQ1,VCV000375594,375594,NM_000218.3(KCNQ1):c.835T>A (p.Phe279Ile),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,1.3684626827068738e-06,2.0,1461494.0,2.3186792802819512e-05,2.0,sas,16.943667629494662,2.3186792802819512e-05,popmax,2.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,8.217915747967623,7.216976134290603,6.145037118180784,0.0,6.490721649484536,6.4035087719298245,10.0,44.47415942185337,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,-5.863767041085759,-4.63475931882058,1.2290074236361568,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6347593188205799,True,False,False
-7:150947380:GCCGC:G,KCNH2,VCV001454593,1454593,NM_000238.4(KCNH2):c.3096_3099del (p.Arg1033fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.432334375595314e-06,2.0,1396322.0,3.980891719745223e-05,1.0,asj,27.793014733652488,3.980891719745223e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,13.499558456497171,4.55340497393906,7.219678288254904,3.0,4.834843100189036,8.26388888888889,3.0,44.37137370776905,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,-5.843955585014026,-4.400019635065158,1.443935657650981,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.40001963506515853,True,False,False
-4:113373174:G:T,ANK2,VCV003023363,3023363,NM_001148.6(ANK2):c.11694+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.843090668214118e-07,1.0,1461328.0,2.988464526926065e-05,1.0,afr,43.6712065454092,2.988464526926065e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,10.697582692286032,4.55340497393906,8.200975953741672,0.0,6.490721649484536,6.136363636363637,8.0,44.07904890581493,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-6.1647477057374,-4.524551894875205,1.6401951907483345,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.5245518948752048,True,False,True
-6:123516183:C:CT,TRDN,VCV002980846,2980846,NM_006073.4(TRDN):c.507dup (p.Gly170fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.506995472985599e-06,2.0,1327144.0,2.676874481355569e-05,2.0,sas,17.762978409977666,2.676874481355569e-05,popmax,2.0,True,False,True,False,True,0.390625,0.382680412371134,9.621630535950798,7.216976134290603,6.247578939692527,6.0,3.0614432989690723,3.90625,8.0,44.053878908903,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,-5.821888052304033,-4.5723719924039035,1.2495157879385055,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.5723719924039032,False,False,True
-7:150948445:CTTGT:C,KCNH2,VCV003076018,3076018,NM_000238.4(KCNH2):c.2687_2690del (p.Asp896fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3790573591327384e-06,2.0,1450266.0,2.520923666431381e-05,1.0,eas,18.280036879778883,2.520923666431381e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.6043553875236295,9.035093534989963,4.55340497393906,6.309885337915842,3.0,4.834843100189036,8.26388888888889,8.0,43.99711583592279,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,-5.860417669838094,-4.598440304561373,1.2619770675831685,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5984403045613724,True,False,False
-11:2587636:GC:G,KCNQ1,VCV003720989,3720989,NM_000218.3(KCNQ1):c.1201del (p.Arg401fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.368365309750013e-06,2.0,1461598.0,2.31862551879246e-05,2.0,sas,16.94448045286974,2.31862551879246e-05,popmax,2.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,8.217689177940336,7.216976134290603,6.145141285781141,3.0,4.834843100189036,6.4035087719298245,8.0,43.81815847013094,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,-5.863797944407404,-4.634769388600005,1.229028257156228,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6347693886000046,True,False,False
-6:123516189:C:A,TRDN,VCV000838068,838068,NM_006073.4(TRDN):c.502G>T (p.Glu168Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.0270178963157825e-05,27.0,1332006.0,2.603458550047152e-05,27.0,nfe,1.2843786561239623,2.603458550047152e-05,popmax,27.0,True,False,False,True,False,0.390625,0.811340206185567,9.349890396693658,20.0,0.5434653991227222,0.0,6.490721649484536,3.90625,3.0,43.29032744530092,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.39; detectability=0.81,-4.693142416952339,-4.584449332383948,0.10869307982454435,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.584449332383948,False,False,True
-12:2593260:C:T,CACNA1C,VCV004055971,4055971,NM_000719.7(CACNA1C):c.2578C>T (p.Arg860Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842753524018065e-07,1.0,1461400.0,3.827018752391887e-05,1.0,asj,55.92797177571708,3.827018752391887e-05,popmax,1.0,True,False,True,False,False,0.7307692307692307,0.811340206185567,13.114363536467756,4.55340497393906,8.738145349762476,0.0,6.490721649484536,7.3076923076923075,3.0,43.20432781734613,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.73; detectability=0.81,-6.164769103009198,-4.4171394097273255,1.7476290699524952,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,True,0.0001,-0.4171394097273256,True,False,True
-3:38566555:G:A,SCN5A,VCV000440848,440848,NM_198056.2(SCN5A):c.[3694C>T;4859C>T],Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,other_or_unresolved,3.4209226365187595e-06,5.0,1461594.0,2.9870362626202283e-05,1.0,afr,8.731666298344887,2.9870362626202283e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,10.692911463985178,4.55340497393906,4.705485648723811,0.0,6.490721649484536,6.637931034482759,10.0,43.08045477061535,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-5.465856747186733,-4.524759505028858,0.9410971297447622,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,0.07730048629910428,True,False,True
-7:150952752:C:T,KCNH2,VCV003381030,3381030,NM_000238.4(KCNH2):c.1230G>A (p.Trp410Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840469310918484e-07,1.0,1461888.0,2.235935962794025e-05,1.0,amr,32.686833205169094,2.235935962794025e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.811340206185567,7.86283606399323,4.55340497393906,7.571864234571959,0.0,6.490721649484536,8.26388888888889,8.0,42.74271581087767,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,-6.164914101181898,-4.6505406388014645,1.5143728469143918,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6505406388014646,True,False,False
-3:38613742:C:A,SCN5A,VCV001171509,1171509,NM_000335.5(SCN5A):c.703+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.932745436520316e-07,1.0,1442430.0,2.56068831301854e-05,1.0,eas,36.93608459818682,2.56068831301854e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,9.188026567224757,4.55340497393906,7.837254281248514,0.0,6.490721649484536,6.637931034482759,8.0,42.70733850637963,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-6.15909474636754,-4.5916432806389675,1.5674508562497027,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.5916432806389674,True,False,True
-3:38581117:TGGGGGTGGCGGGGAGTA:T,SCN5A,VCV002754396,2754396,NM_000335.5(SCN5A):c.3025_3041del (p.Tyr1009fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.972392116176787e-07,1.0,1434228.0,2.27004449287206e-05,1.0,amr,32.557568468480774,2.27004449287206e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.6043553875236295,8.01077374304839,4.55340497393906,7.563259812757562,3.0,4.834843100189036,6.637931034482759,8.0,42.60021266441681,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,-6.156618196848443,-4.6439656305516115,1.5126519625515125,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.6439656305516117,True,False,True
-3:38587561:TC:T,SCN5A,VCV001214434,1214434,NM_000335.5(SCN5A):c.2274del (p.Ile759fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.052421583812688e-06,3.0,1461688.0,3.3126842680624107e-05,2.0,remaining,16.140362097890165,3.3126842680624107e-05,popmax,2.0,True,False,True,False,False,0.6637931034482759,0.6043553875236295,11.70405131304097,7.216976134290603,6.039566367962358,3.0,4.834843100189036,6.637931034482759,3.0,42.43336794996573,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.66; detectability=0.60,-5.687733426836054,-4.479819954752671,1.2079132735924716,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.479819954752671,True,False,True
-11:2572110:G:A,KCNQ1,VCV001067403,1067403,NM_000218.3(KCNQ1):c.780+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.854366642813471e-07,1.0,1458924.0,2.520034272466105e-05,1.0,eas,36.76533263033125,2.520034272466105e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,9.031645450357535,4.55340497393906,7.827192497787115,0.0,6.490721649484536,6.4035087719298245,8.0,42.30647334349807,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,-6.164032668699268,-4.598593552773338,1.5654384995574229,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5985935527733383,True,False,False
-11:2583509:CTCTG:C,KCNQ1,VCV002830594,2830594,NM_000218.3(KCNQ1):c.1000_1003del (p.Val334fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.841311671004058e-07,1.0,1461708.0,2.235935962794025e-05,1.0,amr,32.68280853202259,2.235935962794025e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,7.86283606399323,4.55340497393906,7.571596848474263,3.0,4.834843100189036,6.4035087719298245,8.0,42.226189758525415,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,-6.164860623884185,-4.6505406388014645,1.5143193696948525,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6505406388014646,True,False,False
-1:237795312:A:C,RYR2,VCV000852605,852605,NM_001035.3(RYR2):c.13937A>C (p.Asp4646Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,9.531449812945298e-06,12.0,1258990.0,1.2573555298496204e-05,12.0,nfe,1.319164998619016,1.2573555298496204e-05,popmax,12.0,True,False,True,False,True,0.8035714285714286,0.811340206185567,2.237807940724398,16.849600618345303,0.601495598308596,0.0,6.490721649484536,8.035714285714286,8.0,42.21534009257712,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,-5.020841034527222,-4.900541903841445,0.12029911966171912,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,-0.2984819125134828,True,False,True
-1:115727014:C:A,CASQ2,VCV001757434,1757434,NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.2557001542898904e-06,3.0,1329964.0,3.53090720775858e-05,3.0,sas,15.653258416096053,3.53090720775858e-05,popmax,3.0,True,False,True,False,False,0.5125,0.811340206185567,12.327442126962277,9.10680994787812,5.9730237748543935,0.0,6.490721649484536,5.125,3.0,42.022997499179326,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,-5.646718630748966,-4.452113695545919,1.1946047549708787,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.4521136955459197,False,False,True
-7:150947827:GC:G,KCNH2,VCV001420193,1420193,NM_000238.4(KCNH2):c.2743del (p.Ala915fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,7.281115117342451e-07,1.0,1373416.0,2.8638524543215534e-05,1.0,fin,39.3325551775003,2.8638524543215534e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,10.281389726816125,4.55340497393906,7.973760802916131,3.0,4.834843100189036,8.26388888888889,3.0,41.90728749274924,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,-6.137802102524645,-4.543049360639533,1.5947521605832262,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5430493606395334,True,False,False
-12:2593252:C:G,CACNA1C,VCV000633643,633643,NM_000719.7(CACNA1C):c.2570C>G (p.Pro857Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842613057074236e-07,1.0,1461430.0,2.2369362920544025e-05,1.0,amr,32.691211738483084,2.2369362920544025e-05,popmax,1.0,True,False,True,False,True,0.7307692307692307,0.811340206185567,7.8672067870637745,4.55340497393906,7.572155092590362,0.0,6.490721649484536,7.3076923076923075,8.0,41.79118081077004,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,-6.164778018227981,-4.650346384434088,1.5144310185180725,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,True,0.0001,-0.6503463844340879,True,False,True
-4:113356680:C:T,ANK2,VCV003906496,3906496,NM_001148.6(ANK2):c.8062C>T (p.Arg2688Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052244676819349e-06,3.0,1461814.0,2.987571701720841e-05,1.0,afr,14.557573859047409,2.987571701720841e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,10.69466291292472,4.55340497393906,5.815445011071998,0.0,6.490721649484536,6.136363636363637,8.0,41.69059818378395,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-5.6877708621480565,-4.524681662851162,1.1630890022143996,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.5246816628511615,True,False,True
-21:34449497:G:T,KCNE1,VCV000547162,547162,NM_000219.6(KCNE1):c.138C>A (p.Tyr46Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.000828228591091e-06,3.0,999724.0,2.9429942023014216e-05,2.0,sas,9.807270184725496,2.9429942023014216e-05,popmax,2.0,True,False,True,False,True,0.4166666666666667,0.811340206185567,10.547761979187364,7.216976134290603,4.95774070015624,0.0,6.490721649484536,4.166666666666667,8.0,41.37986712978541,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.42; detectability=0.81,-5.52275886345888,-4.531210593459676,0.991548140031248,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,0.07084939786828673,True,False,False
-1:115726996:G:A,CASQ2,VCV000859128,859128,NM_001232.4(CASQ2):c.733C>T (p.Gln245Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.6498437597959474e-06,2.0,1212236.0,2.4118469924268005e-05,2.0,sas,14.618630499060393,2.4118469924268005e-05,popmax,2.0,True,False,True,False,True,0.5125,0.811340206185567,8.602869840903006,7.216976134290603,5.82453344499717,0.0,6.490721649484536,5.125,8.0,41.26010106967532,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-5.782557181526257,-4.617650247299917,1.1649066889994342,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.617650247299917,False,False,True
-11:2775959:G:A,KCNQ1,VCV000666975,666975,NM_000218.3(KCNQ1):c.1591-1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.4245501270698712e-06,2.0,1403952.0,3.968253968253968e-05,1.0,asj,27.85617162380255,3.968253968253968e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,13.468488078660226,4.55340497393906,7.224607147499393,0.0,6.490721649484536,6.4035087719298245,3.0,41.14073062151304,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,-5.846322264201398,-4.401400540781544,1.4449214294998787,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.40140054078154414,True,False,False
-3:38580930:C:T,SCN5A,VCV004614938,4614938,NM_000335.5(SCN5A):c.3228+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.386107049047398e-06,2.0,1442890.0,2.540779511154022e-05,1.0,eas,18.330314241376573,2.540779511154022e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,9.111757403326108,4.55340497393906,6.3158495512502615,0.0,6.490721649484536,6.637931034482759,8.0,41.109664612482725,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-5.858203227866139,-4.595033021389579,1.2631699102500522,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.5950330213895793,True,False,True
-7:150947785:TC:T,KCNH2,VCV000972416,972416,NM_000238.4(KCNH2):c.2785del (p.Glu929fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,7.232300030520306e-07,1.0,1382686.0,2.6745119015779625e-05,1.0,fin,36.98005188233825,2.6745119015779625e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,9.613002399391142,4.55340497393906,7.839837580654089,3.0,4.834843100189036,8.26388888888889,3.0,41.10497694306222,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,-6.140723565539252,-4.57275546515422,1.567967516130818,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5727554651542196,True,False,False
-1:115717895:C:T,CASQ2,VCV002914884,2914884,NM_001232.4(CASQ2):c.784-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.873948285912256e-07,1.0,1454768.0,2.5218136884047006e-05,1.0,eas,36.68648664297249,2.5218136884047006e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,9.038542836767386,4.55340497393906,7.822530613204668,0.0,6.490721649484536,5.125,8.0,41.03020007339565,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-6.162793739470749,-4.598287002254073,1.5645061226409336,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.5982870022540738,False,False,True
-1:115744827:C:G,CASQ2,VCV001515619,1515619,NM_001232.4(CASQ2):c.319+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.866537850416593e-07,1.0,1456338.0,2.521050773962588e-05,1.0,eas,36.71496840744561,2.521050773962588e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,9.03558621784762,4.55340497393906,7.824215794207941,0.0,6.490721649484536,5.125,8.0,41.028928635479154,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-6.163262181638569,-4.598418407544608,1.564843158841588,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.5984184075446082,False,False,True
-11:2570755:G:A,KCNQ1,VCV000926958,926958,NM_000218.3(KCNQ1):c.604+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.371599119982005e-06,2.0,1458152.0,2.5191455058444177e-05,1.0,eas,18.366472626711847,2.5191455058444177e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,9.028198582011438,4.55340497393906,6.320128779391975,0.0,6.490721649484536,6.4035087719298245,8.0,40.79596275675683,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,-5.862772802200343,-4.598746746928134,1.264025755878395,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5987467469281339,True,False,False
-4:113232260:G:A,ANK2,VCV002101362,2101362,NM_001148.6(ANK2):c.483+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.081932291061752e-07,1.0,1412044.0,2.239741981723705e-05,1.0,amr,31.6260990230113,2.239741981723705e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,7.879455222339948,4.55340497393906,7.500228132000161,0.0,6.490721649484536,6.136363636363637,8.0,40.560173614127336,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-6.1498482297607415,-4.649802009508604,1.5000456264000321,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.6498020095086041,True,False,True
-1:115727123:CTGTAACCATT:C,CASQ2,VCV003019374,3019374,NM_001232.4(CASQ2):c.607-11_607-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,8.92116979868351e-06,13.0,1457208.0,1.173325438959098e-05,13.0,nfe,1.3152147464010495,1.173325438959098e-05,popmax,13.0,True,False,True,False,True,0.5125,0.6043553875236295,1.5619167845981994,17.336428839648455,0.5949833480172113,3.0,4.834843100189036,5.125,8.0,40.4531720724529,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.51; detectability=0.60,-5.049578194524858,-4.930581513254062,0.11899666960344225,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.9305815132540618,False,False,True
-7:150958081:CG:C,KCNH2,VCV001076966,1076966,NM_000238.4(KCNH2):c.893del (p.Pro298fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.5673706872718e-06,4.0,1121274.0,3.380434047731729e-05,1.0,sas,9.475979640116968,3.380434047731729e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,11.901880802626826,4.55340497393906,4.883120594680425,3.0,4.834843100189036,8.26388888888889,3.0,40.43713836032424,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,-5.447651760560098,-4.4710275327305515,0.976624118936085,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,0.13103245859741097,True,False,False
-4:113282823:T:C,ANK2,VCV002664649,2664649,NM_001148.6(ANK2):c.2030T>C (p.Met677Thr),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,2.0523373385836683e-06,3.0,1461748.0,2.237236565394425e-05,1.0,amr,10.90091542575946,2.237236565394425e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,7.868518385294778,4.55340497393906,5.187314851016116,0.0,6.490721649484536,6.136363636363637,10.0,40.23632349609812,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-5.687751253577545,-4.650288091176771,1.0374629702032232,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.6502880911767708,True,False,True
-3:38551291:A:AAGTT,SCN5A,VCV001457006,1457006,NM_000335.5(SCN5A):c.5074_5077dup (p.Phe1693Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.840441235821475e-07,1.0,1461894.0,1.6557387906483872e-05,1.0,remaining,24.20511211274717,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.382680412371134,4.927316620159899,4.55340497393906,6.919535492689683,6.0,3.0614432989690723,6.637931034482759,8.0,40.09963142024048,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.66; detectability=0.38,-6.164915883645086,-4.7810081764447645,1.3839070985379367,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.7810081764447644,True,False,True
-11:2847865:C:CA,KCNQ1,VCV000405260,405260,NM_000218.3(KCNQ1):c.1894dup (p.Arg632fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,7.015476140365646e-07,1.0,1425420.0,2.484225170169424e-05,1.0,amr,35.410593371081,2.484225170169424e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.382680412371134,8.891796942507975,4.55340497393906,7.745666021199067,6.0,3.0614432989690723,6.4035087719298245,3.0,39.655820008545,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.64; detectability=0.38,-6.153942848068836,-4.604809042259513,1.5491332042398134,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6048090422595129,True,False,False
-3:38581292:ATC:A,SCN5A,VCV000418944,418944,NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,4.791389735748012e-06,7.0,1460954.0,3.826432999158185e-05,1.0,asj,7.986059393172863,3.826432999158185e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.6043553875236295,13.112867803174236,4.55340497393906,4.511662678822849,3.0,4.834843100189036,6.637931034482759,3.0,39.65070959060794,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.66; detectability=0.60,-5.319538501819648,-4.4172058867643305,0.9023325357645697,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,0.18485410456363213,True,False,True
-1:115705275:C:A,CASQ2,VCV000651334,651334,NM_001232.4(CASQ2):c.856G>T (p.Glu286Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.846004603253495e-07,1.0,1460706.0,2.2361359570661896e-05,1.0,amr,32.66332584221321,2.2361359570661896e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,7.8637100522238415,4.55340497393906,7.570302016728117,0.0,6.490721649484536,5.125,8.0,39.60313869237555,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-6.164562813178434,-4.650501794878367,1.5140604033456235,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.650501794878367,False,False,True
-1:115705293:C:G,CASQ2,VCV004778592,4778592,NM_001232.4(CASQ2):c.839-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.880825478871049e-07,1.0,1453314.0,2.236736154603203e-05,1.0,amr,32.50675388870347,2.236736154603203e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,7.866332486038185,4.55340497393906,7.559868015950208,0.0,6.490721649484536,5.125,8.0,39.59532712541199,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-6.162359457198581,-4.650385242259184,1.5119736031900417,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.6503852422591847,False,False,True
-3:38551460:G:A,SCN5A,VCV000523778,523778,NM_000335.5(SCN5A):c.4909C>T (p.Arg1637Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.104371429196857e-06,6.0,1461856.0,3.311587243765937e-05,2.0,remaining,8.068437747531474,3.311587243765937e-05,popmax,2.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,11.70081481806312,7.216976134290603,4.5339472626392565,0.0,6.490721649484536,6.637931034482759,3.0,39.58039089896028,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,-5.386753344204365,-4.479963798978251,0.9067894525278514,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,0.12209619234971077,True,False,True
-3:38603712:C:T,SCN5A,VCV000505275,505275,NM_000335.5(SCN5A):c.1890G>A (p.Thr630=),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,other_or_unresolved,1.4756161804265416e-06,2.0,1355366.0,3.419271011420365e-05,1.0,amr,23.17180334286967,3.419271011420365e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,12.013504583463668,4.55340497393906,6.824799170111071,0.0,6.490721649484536,6.637931034482759,3.0,39.5203614114811,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,-5.831026591293273,-4.466066475658547,1.3649598340222142,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.46606647565854664,True,False,True
-15:73329724:C:A,HCN4,VCV000404118,404118,NM_005477.3(HCN4):c.1439G>T (p.Gly480Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840693919991244e-07,1.0,1461840.0,2.236235967619303e-05,1.0,amr,32.69014554312366,2.236235967619303e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,7.864147075654932,4.55340497393906,7.572084270756659,0.0,6.490721649484536,5.0,8.0,39.48035796983519,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,-6.164899841213027,-4.6504823716138945,1.5144168541513319,anchored_exact,1.0,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,True,0.0001,-0.6504823716138943,True,False,True
-6:123377715:C:A,TRDN,VCV003780742,3780742,NM_006073.4(TRDN):c.1246+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.053511778943564e-06,3.0,1460912.0,2.990251779199809e-05,1.0,afr,14.561642420059124,2.990251779199809e-05,popmax,1.0,True,False,True,False,True,0.390625,0.811340206185567,10.70342486961894,4.55340497393906,5.816051810922391,0.0,6.490721649484536,3.90625,8.0,39.469853303964925,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,-5.687502801690036,-4.524292242540612,1.1632103621844783,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.5242922425406118,False,False,True
-6:123530549:CTT:C,TRDN,VCV001403180,1403180,NM_006073.4(TRDN):c.439_440del (p.Lys147fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,9.0703770555742e-07,1.0,1102490.0,2.2095541119802024e-05,1.0,remaining,24.360087374907803,2.2095541119802024e-05,popmax,1.0,True,False,True,False,True,0.390625,0.6043553875236295,7.746854885003509,4.55340497393906,6.933394208468446,3.0,4.834843100189036,3.90625,8.0,38.97474716760005,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,-6.042374658943037,-4.655695358099588,1.3866788416936893,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.6556953580995877,False,False,True
-3:38562432:G:A,SCN5A,VCV000496571,496571,NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.856199444099349e-07,1.0,1458534.0,2.524614996213077e-05,1.0,eas,36.822315840800826,2.524614996213077e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,9.049391432957496,4.55340497393906,7.83055549406824,0.0,6.490721649484536,6.637931034482759,3.0,37.5620045849321,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,-6.163916557448343,-4.597804842404293,1.566111098813648,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.5978048424042931,True,False,True
-11:2445417:C:T,KCNQ1,VCV002440963,2440963,NM_000218.3(KCNQ1):c.319C>T (p.Gln107Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3834281903929214e-06,2.0,1445684.0,2.3213705371651425e-05,2.0,sas,16.779829811931517,2.3213705371651425e-05,popmax,2.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,8.229250952613919,7.216976134290603,6.123937758591581,0.0,6.490721649484536,6.4035087719298245,3.0,37.46439526691046,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,-5.859043378861654,-4.634255531925697,1.2247875517183162,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6342555319256964,True,False,False
-1:237784169:A:C,RYR2,VCV003255050,3255050,NM_001035.3(RYR2):c.12457A>C (p.Ser4153Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.3682773114992762e-06,2.0,1461692.0,1.6563421340312053e-05,1.0,remaining,12.105302116616071,1.6563421340312053e-05,popmax,1.0,True,False,True,False,True,0.8035714285714286,0.811340206185567,4.930876705577447,4.55340497393906,5.414878163825536,0.0,6.490721649484536,8.035714285714286,8.0,37.42559577854087,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,-5.8638258743639335,-4.780849950416652,1.0829756327651072,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,True,0.0001,-0.7808499504166522,True,False,True
-11:2572980:G:A,KCNQ1,VCV002440959,2440959,NM_000218.3(KCNQ1):c.915G>A (p.Trp305Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.845723408129707e-07,1.0,1460766.0,2.5192724341210258e-05,1.0,eas,36.80062286867968,2.5192724341210258e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,9.028690917341178,4.55340497393906,7.829275846919392,0.0,6.490721649484536,6.4035087719298245,3.0,37.30560215961399,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,-6.164580651904198,-4.598724865357054,1.5658551693838785,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5987248653570547,True,False,False
-11:2445200:C:A,KCNQ1,VCV002899907,2899907,NM_000218.3(KCNQ1):c.102C>A (p.Cys34Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.003045087718947e-06,3.0,998986.0,3.278043663541598e-05,1.0,sas,10.915729122331037,3.278043663541598e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,11.601331814792106,4.55340497393906,5.190263749803998,0.0,6.490721649484536,6.4035087719298245,3.0,37.23923095994952,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,-5.522438147254718,-4.484385265924494,1.0380527499607999,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.48438526592449366,True,False,False
-6:123530547:GTCTTA:G,TRDN,VCV000449691,449691,NM_006073.4(TRDN):c.438_442del (p.Asp146_Lys147insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,8.154670542249349e-06,9.0,1103662.0,3.4233679093492176e-05,2.0,sas,4.198045245124528,3.4233679093492176e-05,popmax,2.0,True,False,True,False,False,0.390625,0.6043553875236295,12.02520572910473,7.216976134290603,3.1152355747598097,3.0,4.834843100189036,3.90625,3.0,37.098510538344186,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,-5.088593580248895,-4.465546424725965,0.623047114951962,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.4655464247259657,False,False,True
-4:113367670:T:G,ANK2,VCV004278327,4278327,NM_001148.6(ANK2):c.11137T>G (p.Ser3713Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840721997162468e-07,1.0,1461834.0,1.6559032952475575e-05,1.0,remaining,24.206523452964174,1.6559032952475575e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,4.928287423921334,4.55340497393906,6.919662102183732,0.0,6.490721649484536,6.136363636363637,8.0,37.0284397858923,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-6.164898058683996,-4.780965029608317,1.3839324204367465,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.7809650296083169,True,False,True
-4:113354772:C:T,ANK2,VCV003359793,3359793,NM_001148.6(ANK2):c.6154C>T (p.Arg2052Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3683166284678274e-06,2.0,1461650.0,1.872308556450103e-05,1.0,fin,13.683289738411244,1.872308556450103e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,6.128492517596933,4.55340497393906,5.680952615385102,0.0,6.490721649484536,6.136363636363637,8.0,36.98993539276927,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-5.863813395243639,-4.727622577969138,1.1361905230770204,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.7276225779691373,True,False,True
-6:123516159:CT:C,TRDN,VCV001075032,1075032,NM_006073.4(TRDN):c.531del (p.Glu178fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.240414387045028e-06,3.0,1339038.0,3.33000333000333e-05,1.0,afr,14.863330475494562,3.33000333000333e-05,popmax,1.0,True,False,True,False,False,0.390625,0.6043553875236295,11.755005318964844,4.55340497393906,5.860580670631089,3.0,4.834843100189036,3.90625,3.0,36.91008406372403,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,-5.649671647128898,-4.477555332198981,1.1721161341262178,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.4775553321989812,False,False,True
-7:150959590:T:TG,KCNH2,VCV000503669,503669,NM_000238.4(KCNH2):c.453dup (p.Thr152fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.3683035225605884e-06,2.0,1461664.0,1.8775111711914684e-05,1.0,fin,13.721443145404296,1.8775111711914684e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.382680412371134,6.1556074395176905,4.55340497393906,5.68699895230755,6.0,3.0614432989690723,8.26388888888889,3.0,36.72134355362226,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.83; detectability=0.38,-5.863817554990246,-4.726417470263939,1.13739979046151,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.7264174702639392,True,False,False
-3:38620919:G:A,SCN5A,VCV000667015,667015,NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842435140557302e-07,1.0,1461468.0,2.2374367924106146e-05,1.0,amr,32.69937641368331,2.2374367924106146e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,7.869392881930953,4.55340497393906,7.572697353105923,0.0,6.490721649484536,6.637931034482759,3.0,36.12414789294324,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,-6.164789310575721,-4.650249224657871,1.5145394706211845,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.6502492246578704,True,False,True
-17:70175675:G:A,KCNJ2,VCV001480008,1480008,NM_000891.3(KCNJ2):c.636G>A (p.Trp212Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840450594161539e-07,1.0,1461892.0,1.6557387906483872e-05,1.0,remaining,24.20507899806617,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,4.927316620159899,4.55340497393906,6.919532521926111,0.0,6.490721649484536,5.0,8.0,35.89097576550961,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,-6.1649152894915025,-4.7810081764447645,1.3839065043852221,anchored_exact,1.0,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,True,0.0001,-0.7810081764447644,True,False,True
-11:2585248:C:T,KCNQ1,VCV000842027,842027,NM_000218.3(KCNQ1):c.1069C>T (p.Gln357Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3682454851319603e-06,2.0,1461726.0,2.5188916876574308e-05,1.0,eas,18.40963463110593,2.5188916876574308e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,9.027213985763447,4.55340497393906,6.325225846575167,0.0,6.490721649484536,6.4035087719298245,3.0,35.800075227692034,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,-5.8638359762463095,-4.598790506763115,1.265045169315033,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5987905067631151,True,False,False
-4:113333091:C:T,ANK2,VCV002576605,2576605,NM_001148.6(ANK2):c.3262C>T (p.Arg1088Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.368095733867073e-06,2.0,1461886.0,1.6557387906483872e-05,1.0,remaining,12.102498673235353,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,4.927316620159899,4.55340497393906,5.414375218511921,0.0,6.490721649484536,6.136363636363637,8.0,35.522182098459055,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-5.8638835113618955,-4.7810081764447645,1.0828750437023842,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.7810081764447644,True,False,True
-7:150977912:A:G,KCNH2,VCV004813695,4813695,NM_000238.4(KCNH2):c.2T>C (p.Met1Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.93410107700458e-07,1.0,1442148.0,1.171042461999672e-05,1.0,sas,16.888142531826052,1.171042461999672e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.811340206185567,1.542885299143372,4.55340497393906,6.137909428275693,0.0,6.490721649484536,8.26388888888889,8.0,34.98881023973155,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,-6.159009832009677,-4.931427357124214,1.2275818856551386,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.9314273571242137,True,False,False
-11:2583515:CTT:C,KCNQ1,VCV003000119,3000119,NM_000218.3(KCNQ1):c.1004_1005del (p.Phe335fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,4.105124015796517e-06,6.0,1461588.0,1.6558484567492383e-05,1.0,remaining,4.033612984689953,1.6558484567492383e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,4.927963811950888,4.55340497393906,3.028471131906448,3.0,4.834843100189036,6.4035087719298245,8.0,34.74819178991525,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,-5.38667371831006,-4.780979412363427,0.6056942263812896,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-0.1789194210354652,True,False,False
-1:115738290:G:A,CASQ2,VCV000942279,942279,NM_001232.4(CASQ2):c.466C>T (p.Gln156Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052578860079804e-06,3.0,1461576.0,1.655958137378287e-05,1.0,remaining,8.067692125332965,1.655958137378287e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,4.928611046609361,4.55340497393906,4.533746582792739,0.0,6.490721649484536,5.125,8.0,33.6314842528257,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-5.687700148293988,-4.780950646376869,0.9067493165585478,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.7809506463768694,False,False,True
-6:123516162:T:A,TRDN,VCV000583099,583099,NM_006073.4(TRDN):c.529A>T (p.Lys177Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.239026530971708e-06,3.0,1339868.0,1.8289560318969934e-05,1.0,remaining,8.168529000191663,1.8289560318969934e-05,popmax,1.0,True,False,True,False,True,0.390625,0.811340206185567,5.899574000431089,4.55340497393906,4.560719276163659,0.0,6.490721649484536,3.90625,8.0,33.41066990001834,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,-5.6499407602903995,-4.737796734837436,0.9121438552327318,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.737796734837436,False,False,True
-3:38603999:G:A,SCN5A,VCV000517279,517279,NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.7902486960258726e-06,7.0,1461302.0,2.519018590357197e-05,1.0,eas,5.258637545443709,2.519018590357197e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,9.027706271486364,4.55340497393906,3.604366189265548,0.0,6.490721649484536,6.637931034482759,3.0,33.31413011865827,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,-5.319641938671461,-4.598768627396784,0.7208732378531095,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,0.0032913639311787702,True,False,True
-6:123570930:G:GT,TRDN,VCV004077704,4077704,NM_006073.4(TRDN):c.224dup (p.Asn75fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.843811893723814e-07,1.0,1461174.0,1.160227404571296e-05,1.0,sas,16.952917866481776,1.160227404571296e-05,popmax,1.0,True,False,True,False,True,0.390625,0.382680412371134,1.4522210262051705,4.55340497393906,6.146222289760973,6.0,3.0614432989690723,3.90625,8.0,33.11954158887428,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,-6.164701935811307,-4.93545688071161,1.2292444579521946,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.93545688071161,False,False,True
-11:2572062:G:T,KCNQ1,VCV000405265,405265,NM_000218.3(KCNQ1):c.733G>T (p.Gly245Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.846370191451896e-07,1.0,1460628.0,1.1593396401409756e-05,1.0,sas,16.933616125912472,1.1593396401409756e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,1.4447412669586976,4.55340497393906,6.143748551865907,0.0,6.490721649484536,6.4035087719298245,8.0,33.03612521417803,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,-6.164539621739457,-4.935789314484561,1.2287497103731815,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.935789314484561,True,False,False
-3:38633181:G:A,SCN5A,VCV000924596,924596,NM_000335.5(SCN5A):c.127C>T (p.Arg43Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.843886834962407e-07,1.0,1461158.0,1.657000828500414e-05,1.0,remaining,24.21136625022659,1.657000828500414e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,4.93476191496682,4.55340497393906,6.920096487107972,0.0,6.490721649484536,6.637931034482759,3.0,32.53691605998115,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,-6.164697180217685,-4.780677274433368,1.3840192974215944,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.7806772744333681,True,False,True
-1:115732931:G:T,CASQ2,VCV001367739,1367739,NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.05254796462502e-06,3.0,1461598.0,2.236035955458164e-05,1.0,amr,10.893947447761208,2.236035955458164e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,7.863273048337192,4.55340497393906,5.185926379560558,0.0,6.490721649484536,5.125,3.0,32.21832605132135,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,-5.687706685351722,-4.650521217274198,1.0371852759121116,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.6505212172741976,False,False,True
-17:70175721:C:T,KCNJ2,VCV000403974,403974,NM_000891.3(KCNJ2):c.682C>T (p.Arg228Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.104292816666712e-06,6.0,1461884.0,1.6557387906483872e-05,1.0,remaining,4.034162671114734,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,4.927316620159899,4.55340497393906,3.028767032278017,0.0,6.490721649484536,5.0,8.0,32.00021027586151,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,-5.386761662485399,-4.7810081764447645,0.6057534064556034,anchored_exact,1.0,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-0.17894818511680197,True,False,True
-1:237640956:A:G,RYR2,VCV001805845,1805845,NM_001035.3(RYR2):c.7175A>G (p.Tyr2392Cys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0529075329389014e-06,3.0,1461342.0,1.656781205474005e-05,1.0,remaining,8.070409757137067,1.656781205474005e-05,popmax,1.0,True,False,True,False,False,0.8035714285714286,0.811340206185567,4.933466673522359,4.55340497393906,4.534477928099714,0.0,6.490721649484536,8.035714285714286,3.0,31.54778551075995,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.80; detectability=0.81,-5.687630611680931,-4.780734840723263,0.9068955856199429,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,-0.1786748493953005,True,False,True
-6:123530506:CT:C,TRDN,VCV002732852,2732852,NM_006073.4(TRDN):c.483del (p.Val162fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.6582867511487022e-06,4.0,1093408.0,2.22727070248118e-05,1.0,remaining,6.088287619752758,2.22727070248118e-05,popmax,1.0,True,False,True,False,False,0.390625,0.6043553875236295,7.824893037576183,4.55340497393906,3.922475804818624,3.0,4.834843100189036,3.90625,3.0,31.041866916522903,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,-5.436722255786699,-4.652226995606679,0.7844951609637247,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.6522269956066784,False,False,True
-21:34449418:G:A,KCNE1,VCV000418270,418270,NM_000219.6(KCNE1):c.217C>T (p.His73Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.879216099567022e-07,1.0,1453654.0,1.1603620329542817e-05,1.0,sas,16.86762604048317,1.1603620329542817e-05,popmax,1.0,True,False,True,False,True,0.4166666666666667,0.811340206185567,1.4533548226908253,4.55340497393906,6.135269820157655,0.0,6.490721649484536,4.166666666666667,8.0,30.79941793293874,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.42; detectability=0.81,-6.162461047669836,-4.935406489752349,1.227053964031531,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,True,0.0001,-0.935406489752349,True,False,False
-1:237707240:A:T,RYR2,VCV000649240,649240,NM_001035.3(RYR2):c.9872A>T (p.Asp3291Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,7.100769865468815e-07,1.0,1408298.0,1.27890321260487e-05,1.0,sas,18.0107444088528,1.27890321260487e-05,popmax,1.0,True,False,True,False,False,0.8035714285714286,0.811340206185567,2.403848526170763,4.55340497393906,6.277658315895527,0.0,6.490721649484536,8.035714285714286,3.0,30.76134775120417,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.80; detectability=0.81,-6.148694562520469,-4.8931623216840965,1.2555316631791054,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,True,0.0001,-0.8931623216840966,True,False,True
-11:2572019:C:CCG,KCNQ1,VCV000817280,817280,NM_000218.3(KCNQ1):c.692_693dup (p.Phe232fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.848423835254316e-07,1.0,1460190.0,1.1602543277486424e-05,1.0,sas,16.94189439015813,1.1602543277486424e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.382680412371134,1.4524477749782392,4.55340497393906,6.144809850868763,6.0,3.0614432989690723,6.4035087719298245,3.0,30.61561467068496,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.64; detectability=0.38,-6.1644093698822715,-4.935446802987494,1.2289619701737526,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.9354468029874938,True,False,False
-1:115725554:C:A,CASQ2,VCV003575248,3575248,NM_001232.4(CASQ2):c.738-1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.955567832684809e-06,7.0,1006388.0,2.285818780287099e-05,1.0,remaining,3.2863148008051355,2.285818780287099e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,8.07844085003294,4.55340497393906,2.583545813913104,0.0,6.490721649484536,5.125,3.0,29.83111328736964,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,-5.157667409663991,-4.640958203442495,0.5167091627826208,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.640958203442495,False,False,True
-3:38566408:C:T,SCN5A,VCV000488729,488729,NM_000335.5(SCN5A):c.3837+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.791376617260729e-06,7.0,1460958.0,1.8777932174108987e-05,1.0,fin,3.919109424075093,1.8777932174108987e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,6.157075256610451,4.55340497393906,2.9659369471539314,0.0,6.490721649484536,6.637931034482759,3.0,29.80506986167073,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,-5.319539690888947,-4.726352233945231,0.5931873894307864,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-0.12429224261726858,True,False,True
-21:34449584:C:T,KCNE1,VCV000547164,547164,NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.0952014842170511e-06,1.0,913074.0,1.5943369152769364e-05,1.0,sas,14.55746346682834,1.5943369152769364e-05,popmax,1.0,True,False,True,False,False,0.4166666666666667,0.811340206185567,4.558052904933406,4.55340497393906,5.815428544415592,0.0,6.490721649484536,4.166666666666667,3.0,28.584274739439262,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.42; detectability=0.81,-5.960505976317786,-4.7974198981316665,1.1630857088831186,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,True,0.0001,-0.7974198981316662,True,False,False
-11:2588855:G:A,KCNQ1,VCV002773478,2773478,NM_000218.3(KCNQ1):c.1393+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.8510794560791e-07,1.0,1459624.0,1.160631383472609e-05,1.0,sas,16.940830957078788,1.160631383472609e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,1.4556228103999276,4.55340497393906,6.144673544502126,0.0,6.490721649484536,6.4035087719298245,3.0,28.04793175025548,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,-6.1642409956777255,-4.935305690289925,1.2289347089004252,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.9353056902899253,True,False,False
-17:70175818:G:A,KCNJ2,VCV001477795,1477795,NM_000891.3(KCNJ2):c.779G>A (p.Arg260His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,4.104309661955375e-06,6.0,1461878.0,1.15931275939623e-05,1.0,sas,2.8246225855718,1.15931275939623e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,1.4445146969411835,4.55340497393906,2.254802136965795,0.0,6.490721649484536,5.0,8.0,27.74344345733057,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,-5.386759880010018,-4.935799384263986,0.45096042739315895,anchored_exact,1.0,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-0.33373939293602345,True,False,True
-6:123636753:C:A,TRDN,VCV000915308,915308,NM_006073.4(TRDN):c.22+1G>T,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.055515358810761e-06,3.0,1459488.0,1.6596408537192552e-05,1.0,remaining,8.074082926196981,1.6596408537192552e-05,popmax,1.0,True,False,True,False,False,0.390625,0.811340206185567,4.950318218612913,4.55340497393906,4.535466027950625,0.0,6.490721649484536,3.90625,3.0,27.43616086998713,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.39; detectability=0.81,-5.687079273823139,-4.779985883118516,0.9070932055901251,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.779985883118516,False,False,True
-15:73329709:G:A,HCN4,VCV001675066,1675066,NM_005477.3(HCN4):c.1454C>T (p.Ala485Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,3.420346959995622e-06,5.0,1461840.0,1.6557936218829686e-05,1.0,remaining,4.841009573438511,1.6557936218829686e-05,popmax,1.0,True,False,True,False,False,0.5,0.811340206185567,4.927640210697314,4.55340497393906,3.424679707448827,0.0,6.490721649484536,5.0,3.0,27.396446541569738,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.50; detectability=0.81,-5.465929836877009,-4.7809937946422325,0.6849359414897653,anchored_exact,1.0,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,-0.17893380331427042,True,False,True
-1:237330939:C:T,RYR2,VCV000404190,404190,NM_001035.3(RYR2):c.230C>T (p.Ala77Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0524243921061023e-06,3.0,1461686.0,1.15931275939623e-05,1.0,sas,5.648501835219441,1.15931275939623e-05,popmax,1.0,True,False,True,False,False,0.8035714285714286,0.811340206185567,1.4445146969411835,4.55340497393906,3.759666370977259,0.0,6.490721649484536,8.035714285714286,3.0,27.284021977056327,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.80; detectability=0.81,-5.687732832598735,-4.935799384263986,0.7519332741954518,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,-0.33373939293602345,True,False,True
-1:115738223:C:T,CASQ2,VCV001746831,1746831,NM_001232.4(CASQ2):c.532+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.006952298070145e-07,1.0,1427154.0,1.168688497767805e-05,1.0,sas,16.678962267139422,1.168688497767805e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,1.5232231551520896,4.55340497393906,6.110845130886591,0.0,6.490721649484536,5.125,3.0,26.80319490946228,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,-6.1544708390863345,-4.932301230265192,1.2221690261773182,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.9323012302651916,False,False,True
-1:115744914:T:C,CASQ2,VCV000408869,408869,NM_001232.4(CASQ2):c.235-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.372949328559131e-06,2.0,1456718.0,1.162385214460072e-05,1.0,sas,8.466331886019208,1.162385214460072e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,1.4703775753869388,4.55340497393906,4.63847644556688,0.0,6.490721649484536,5.125,3.0,25.27798064437741,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,-5.862345490973913,-4.934649922900711,0.9276952891133761,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-1.9346499229007108,False,False,True
-21:34449622:T:TA,KCNE1,VCV000430060,430060,NM_000219.6(KCNE1):c.12dup (p.Asn5Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,2.628017292353784e-06,2.0,761030.0,3.923091710114907e-06,2.0,nfe,1.4927950545584636,3.923091710114907e-06,popmax,0.0,False,False,False,False,False,0.4166666666666667,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.42; detectability=0.38,-5.580371781445164,-5.406371539249691,0.17400018764202313,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,-0.8043115479217289,True,False,False
-4:113358978:A:AG,ANK2,VCV001208780,1208780,NM_001148.6(ANK2):c.10367dup (p.Thr3457fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,3.420660515862971e-06,,,3.420660515862971e-06,,,2.923411145366478e-07,3.420660515862971e-06,global,0.0,False,False,False,False,True,0.6136363636363636,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.61; detectability=0.38,-5.465890025318979,-5.465890025318979,-6.534110101643173,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-0.8638300339910164,True,False,True
-7:150947376:C:CG,KCNH2,VCV000857501,857501,NM_000238.4(KCNH2):c.3103dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.4431722079668878e-06,2.0,1385836.0,1.8602055527135749e-06,2.0,nfe,1.2889697109428708,1.8602055527135749e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.83; detectability=0.38,-5.840681843191019,-5.730439063590216,0.11024271213623696,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1283790722622535,False,False,False
-11:2588804:C:CA,KCNQ1,VCV001068919,1068919,NM_000218.3(KCNQ1):c.1344dup (p.Glu449fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.3687567582364937e-06,2.0,1461180.0,1.7986646713479913e-06,2.0,nfe,1.3140861927718974,1.7986646713479913e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.64; detectability=0.38,-5.863673723481508,-5.745049795496874,0.11862385214731218,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1429898041689115,False,False,False
-7:150948455:C:CGCCT,KCNH2,VCV000519280,519280,NM_000238.4(KCNH2):c.2677_2680dup (p.Arg894fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,8.697558073595258e-07,1.0,1149748.0,1.1272305073664514e-06,1.0,nfe,1.2960306810228792,1.1272305073664514e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.83; detectability=0.38,-6.060602662786437,-5.947987265993787,0.11261528273921749,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.3459272746658248,False,False,False
-7:82443436:G:GGCCAGCAGGCA,CACNA2D1,VCV001802180,1802180,NM_000722.4(CACNA2D1):c.13_23dup (p.Leu9fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,duplication,LOF,6.870028675499691e-07,1.0,1455598.0,9.019003039404024e-07,1.0,nfe,1.3128038232984225,9.019003039404024e-07,popmax,0.0,False,False,False,False,True,0.75,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.75; detectability=0.38,-6.163041450191499,-6.0448414667169414,0.11819983284926416,anchored_exact,1.0,Brugada,gene_context_fallback,1,-0.0,Brugada,provocation_dependent,0.8,limited,0.25,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.442781475388979,False,False,False
-3:38581146:T:TGCAGCTGG,SCN5A,VCV002104041,2104041,NM_000335.5(SCN5A):c.3005_3012dup (p.Ile1005fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.846370191451896e-07,1.0,1460628.0,8.996883479562679e-07,1.0,nfe,1.314109533501488,8.996883479562679e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.66; detectability=0.38,-6.164539621739457,-6.0459079041190815,0.1186315659944688,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4438479127911195,False,False,True
-11:2445314:G:GC,KCNQ1,VCV001787905,1787905,NM_000218.3(KCNQ1):c.221dup (p.Val75fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1325352.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.64; detectability=0.38,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2847842:A:AC,KCNQ1,VCV001306529,1306529,NM_000218.3(KCNQ1):c.1875dup (p.Gly626fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1417300.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.64; detectability=0.38,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958081:C:CG,KCNH2,VCV003645049,3645049,NM_000238.4(KCNH2):c.893dup (p.Pro299fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1121302.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.83; detectability=0.38,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947472:T:TC,KCNH2,VCV000864600,864600,NM_000238.4(KCNH2):c.3007dup (p.Asp1003fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1424464.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.83; detectability=0.38,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-6:123512339:T:TC,TRDN,VCV000532312,532312,NM_006073.4(TRDN):c.573dup (p.Lys192fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1354634.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-7:150947795:GC:G,KCNH2,VCV001074305,1074305,NM_000238.4(KCNH2):c.2775del (p.Pro926fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,7.97089897247866e-06,,,7.97089897247866e-06,,,1.2545634789706644e-07,7.97089897247866e-06,global,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,-5.098492695320329,-5.098492695320329,-6.9015073591646745,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-0.49643270399236605,True,False,False
-6:123503830:CCT:C,TRDN,VCV003592999,3592999,NM_006073.4(TRDN):c.680_681del (p.Gln227fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,4.12401745284186e-06,6.0,1454892.0,5.414810589925564e-06,6.0,nfe,1.3129940255709134,5.414810589925564e-06,popmax,0.0,False,False,False,False,True,0.390625,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,-5.384679505450385,-5.266416730393942,0.11826274995277866,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-2.2664167303939426,False,False,True
-3:38613790:C:CTGAAT,SCN5A,VCV002861576,2861576,NM_000335.5(SCN5A):c.655_656insATTCA (p.Arg219fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,4.113674539782661e-06,6.0,1458550.0,5.403010557482629e-06,6.0,nfe,1.3134267652446132,5.403010557482629e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.5866666666666666,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=insertion; gene_constraint=0.66; detectability=0.59,-5.385770071213905,-5.267364183848557,0.11840586217207445,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-0.6653041925205951,True,False,True
-7:150947387:AC:A,KCNH2,VCV000917819,917819,NM_000238.4(KCNH2):c.3092del (p.Gly1031fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.604154292403596e-06,5.0,1387288.0,4.655415458586356e-06,5.0,nfe,1.2916803192133486,4.655415458586356e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,-5.443196625321954,-5.332041555644992,0.11115504246668188,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-0.7299815643170293,True,False,False
-11:2570664:GTGGTCCGCCTC:G,KCNQ1,VCV000519537,519537,NM_000218.3(KCNQ1):c.524_534del (p.Leu175fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.0543273721318167e-06,3.0,1460332.0,2.6979242171073577e-06,3.0,nfe,1.3132882034373443,2.6979242171073577e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,-5.687330347213235,-5.568970253535253,0.11836004324685971,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-0.9669102622072909,True,False,False
-7:150947472:TC:T,KCNH2,VCV000837649,837649,NM_000238.4(KCNH2):c.3007del (p.Asp1003fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.404040829507322e-06,2.0,1424460.0,1.8277793212358715e-06,2.0,nfe,1.3017990510134867,1.8277793212358715e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,-5.8526202627390465,-5.738076240415614,0.11454395061364096,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.136016249087652,False,False,False
-7:150950047:GCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGC:G,KCNH2,VCV004537402,4537402,NM_000238.4(KCNH2):c.2398+86_2398+120del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,1.3735848641936646e-06,2.0,1456044.0,1.802292155162936e-06,2.0,nfe,1.3121081121644589,1.802292155162936e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,-5.862144503398529,-5.744174807646243,0.11796962054425542,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1421148163182806,False,False,False
-3:38587442:CA:C,SCN5A,VCV003385945,3385945,NM_000335.5(SCN5A):c.2393del (p.Leu798fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3683877792024215e-06,2.0,1461574.0,1.7988749835852655e-06,2.0,nfe,1.3145942227279572,1.7988749835852655e-06,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.66; detectability=0.60,-5.863790813066815,-5.744999017769321,0.11879171934638616,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.1429390264413588,False,False,True
-1:115702951:CCTGAATAGGT:C,CASQ2,VCV002988469,2988469,NM_001232.4(CASQ2):c.974_983del (p.Asp325fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3685694343702527e-06,2.0,1461380.0,1.7988458604959058e-06,2.0,nfe,1.3143984520779486,1.7988458604959058e-06,popmax,0.0,False,False,False,False,False,0.5125,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.51; detectability=0.60,-5.863733163764354,-5.745006048885716,0.11872703897356557,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-2.745006048885716,False,False,True
-11:2572033:TC:T,KCNQ1,VCV000656121,656121,NM_000218.3(KCNQ1):c.706del (p.Ile235_Leu236insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3692440403653143e-06,2.0,1460660.0,1.798784381514972e-06,2.0,nfe,1.3137059682429495,1.798784381514972e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,-5.863519140661796,-5.745020891979852,0.11849817294146892,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.14296090065189,False,False,False
-11:2445114:TC:T,KCNQ1,VCV000523933,523933,NM_000218.3(KCNQ1):c.20del (p.Pro7fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.0542451288603822e-06,1.0,948546.0,1.1995470510335298e-06,1.0,nfe,1.1378254263358936,1.1995470510335298e-06,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,-5.977058396966116,-5.920982712595298,0.05607563447129593,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.3189227212673353,False,False,False
-7:150948442:AC:A,KCNH2,VCV003076027,3076027,NM_000238.4(KCNH2):c.2692+1del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,8.761063032344092e-07,1.0,1141414.0,1.1032048099729716e-06,1.0,nfe,1.2592131191010063,1.1032048099729716e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,-6.057443195079471,-5.957343853304137,0.10009923973186871,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.3552838619761753,False,False,False
-11:2445294:TCCCCGGCCGCG:T,KCNQ1,VCV000449221,449221,NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,8.033277046838826e-07,1.0,1244822.0,9.895679744137304e-07,1.0,nfe,1.2318356964514732,9.895679744137304e-07,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,-6.095107255090803,-6.004554368310682,0.09055278503372446,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.40249437698272,False,False,False
-3:38581308:CAG:C,SCN5A,VCV001332487,1332487,NM_000335.5(SCN5A):c.2849_2850del (p.Pro950fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.857957974433533e-07,1.0,1458160.0,9.016856110813556e-07,1.0,nfe,1.314801431623534,9.016856110813556e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,-6.163805180569505,-6.044944860654155,0.11886016829204983,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4428848693261924,False,False,True
-7:150947652:CA:C,KCNH2,VCV000858435,858435,NM_000238.4(KCNH2):c.2918del (p.Leu973fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.85348348858758e-07,1.0,1459112.0,9.000819074535783e-07,1.0,nfe,1.3133198549796452,9.000819074535783e-07,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,-6.164088629189619,-6.045717967964516,0.11837051004651916,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4436579766365543,False,False,False
-12:2584592:GAGA:G,CACNA1C,VCV000411734,411734,NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,missense,6.845132973553145e-07,1.0,1460892.0,8.998033029979646e-07,1.0,nfe,1.3145149874508737,8.998033029979646e-07,popmax,0.0,False,False,False,False,False,0.7307692307692307,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.73; detectability=0.60,-6.16461811084344,-6.045852416959342,0.11876554208186885,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-1.4437924256313794,False,False,True
-3:38557229:AC:A,SCN5A,VCV001327132,1327132,NM_000335.5(SCN5A):c.4296+1del,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,6.843736954126432e-07,1.0,1461190.0,8.99647877820621e-07,1.0,nfe,1.314556022966598,8.99647877820621e-07,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.66; detectability=0.60,-6.164706691352855,-6.045927440163924,0.11877909934066631,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4438674488359615,False,False,True
-3:38604874:CG:C,SCN5A,VCV003629463,3629463,NM_000335.5(SCN5A):c.1372del (p.Arg458fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.843924306197174e-07,1.0,1461150.0,8.99566948471006e-07,1.0,nfe,1.3144017873702387,8.99566948471006e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,-6.164694802401345,-6.045966509617412,0.11872814099646971,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4439065182894497,False,False,True
-6:123570976:CACGTGATTATCAGGGCA:C,TRDN,VCV001677487,1677487,NM_006073.4(TRDN):c.162_178del (p.Ile54fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.84147080675992e-07,1.0,1461674.0,8.994148407046376e-07,1.0,nfe,1.314650827955176,8.994148407046376e-07,popmax,0.0,False,False,False,False,True,0.390625,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,-6.16485052187741,-6.046039950676286,0.11881041926773844,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.0460399506762856,False,False,True
-11:2768851:GAACACCATCGGGCCACCATT:G,KCNQ1,VCV002009452,2009452,NM_000218.3(KCNQ1):c.1525_1544del (p.His509fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.841161902937595e-07,1.0,1461740.0,8.99363071073066e-07,1.0,nfe,1.3146345155964867,8.99363071073066e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,-6.16487013144062,-6.046064949054553,0.11880503045181316,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440049577265899,False,False,False
-4:113359097:ACAGT:A,ANK2,VCV000570614,570614,NM_001148.6(ANK2):c.10483_10486del (p.Ser3495fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.841218065194071e-07,1.0,1461728.0,8.993468942853699e-07,1.0,nfe,1.3146000772302235,8.993468942853699e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.61; detectability=0.60,-6.164866566131348,-6.0460727607526765,0.11879365345831436,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4440127694247145,False,False,True
-4:113358978:AG:A,ANK2,VCV001342783,1342783,NM_001148.6(ANK2):c.10367del (p.Gly3456fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.84114318239035e-07,1.0,1461744.0,8.993291004910337e-07,1.0,nfe,1.3145884568203765,8.993291004910337e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.61; detectability=0.60,-6.16487131987054,-6.046081353458328,0.11878981449446016,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4440213621303657,False,False,True
-7:150951697:AG:A,KCNH2,VCV000405341,405341,NM_000238.4(KCNH2):c.1695del (p.Cys566fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840890465030052e-07,1.0,1461798.0,8.992999848917603e-07,1.0,nfe,1.3145944594412535,8.992999848917603e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,-6.164887363356165,-6.0460954138826875,0.11879179754790824,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440354225547252,False,False,False
-7:150949032:CA:C,KCNH2,VCV000418689,418689,NM_000238.4(KCNH2):c.2415del (p.Phe805fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840675202005138e-07,1.0,1461844.0,8.992918975598614e-07,1.0,nfe,1.3146240047652844,8.992918975598614e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,-6.16490102956165,-6.046099319475336,0.11880155814511069,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440393281473738,False,False,False
-7:150951021:TC:T,KCNH2,VCV000810745,810745,NM_000238.4(KCNH2):c.2044del (p.Glu682fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840656484121468e-07,1.0,1461848.0,8.992789581313703e-07,1.0,nfe,1.3146086864763482,8.992789581313703e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,-6.164902217907022,-6.046105568350519,0.11879649762051017,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.444045577022557,False,False,False
-7:150948956:TGTAGGTCACA:T,KCNH2,VCV000503760,503760,NM_000238.4(KCNH2):c.2482_2491del (p.Cys828fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840478669335365e-07,1.0,1461886.0,8.992757233324281e-07,1.0,nfe,1.3146381301144725,8.992757233324281e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,-6.164913507025877,-6.046107130555266,0.11880622451985212,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440471392273042,False,False,False
-3:38551026:GCT:G,SCN5A,VCV002428920,2428920,NM_000335.5(SCN5A):c.5341_5342del (p.Ser1781fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840441235821475e-07,1.0,1461894.0,8.992708711776492e-07,1.0,nfe,1.3146382309816362,8.992708711776492e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,-6.164915883645086,-6.046109473851851,0.11880625784160807,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4440494825238885,False,False,True
-11:2445203:CT:C,KCNQ1,VCV003862980,3862980,NM_000218.3(KCNQ1):c.107del (p.Phe36fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,998778.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445284:GC:G,KCNQ1,VCV003076068,3076068,NM_000218.3(KCNQ1):c.191del (p.Pro64fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1165068.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572978:TG:T,KCNQ1,VCV001457672,1457672,NM_000218.3(KCNQ1):c.919del (p.Val307fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1460810.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445270:GC:G,KCNQ1,VCV000635221,635221,NM_000218.3(KCNQ1):c.176del (p.Pro59fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1083286.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445294:TC:T,KCNQ1,VCV000405258,405258,NM_000218.3(KCNQ1):c.200del (p.Pro67fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1244822.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958217:GC:G,KCNH2,VCV004727450,4727450,NM_000238.4(KCNH2):c.757del (p.Ala253fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1219196.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150977840:TG:T,KCNH2,VCV004528252,4528252,NM_000238.4(KCNH2):c.73del (p.Gln25fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,982894.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958426:GC:G,KCNH2,VCV003720792,3720792,NM_000238.4(KCNH2):c.548del (p.Gly183fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1297264.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958200:CG:C,KCNH2,VCV003644294,3644294,NM_000238.4(KCNH2):c.774del (p.Asp259fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1212186.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948519:CG:C,KCNH2,VCV003376533,3376533,NM_000238.4(KCNH2):c.2616del (p.Gly873fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1461446.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947431:C:CGGGGGGGGGGGGG,KCNH2,VCV003076044,3076044,NM_000238.4(KCNH2):c.3048_3049insCCCCCCCCCCCCC (p.Ala1017fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,0.0,0.0,1294084.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.5866666666666666,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=insertion; gene_constraint=0.83; detectability=0.59,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947425:T:TGGGGGGG,KCNH2,VCV003076029,3076029,NM_000238.4(KCNH2):c.3054_3055insCCCCCCC (p.Thr1019fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,0.0,0.0,1287706.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.5866666666666666,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=insertion; gene_constraint=0.83; detectability=0.59,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958228:TG:T,KCNH2,VCV002584422,2584422,NM_000238.4(KCNH2):c.746del (p.Pro249fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1225122.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974709:AC:A,KCNH2,VCV001382290,1382290,NM_000238.4(KCNH2):c.307+1del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,0.0,0.0,1438648.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958305:CT:C,KCNH2,VCV001070517,1070517,NM_000238.4(KCNH2):c.669del (p.Leu225fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1328332.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947808:GC:G,KCNH2,VCV000653333,653333,NM_000238.4(KCNH2):c.2762del (p.Gly921fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1378096.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150977867:TC:T,KCNH2,VCV000638156,638156,NM_000238.4(KCNH2):c.46del (p.Asp16fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1392070.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947425:TG:T,KCNH2,VCV000523705,523705,NM_000238.4(KCNH2):c.3054del (p.Thr1019fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1287714.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947678:CG:C,KCNH2,VCV000418247,418247,NM_000238.4(KCNH2):c.2892del (p.Gly965fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1451776.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-3:38603785:GC:G,SCN5A,VCV001254662,1254662,NM_000335.5(SCN5A):c.1816del (p.Ala606fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1413208.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.66; detectability=0.60,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-12:2585484:AC:A,CACNA1C,VCV001334090,1334090,NM_000719.7(CACNA1C):c.2451del (p.Ala818fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1402792.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.73; detectability=0.60,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-1:115705187:C:G,CASQ2,VCV001455253,1455253,NM_001232.4(CASQ2):c.939+5G>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,3.47015940524244e-06,5.0,1440856.0,4.575293779613589e-06,5.0,nfe,1.3184678070505331,4.575293779613589e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,-5.459650574999586,-5.33958101465353,0.12006953011656153,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-2.33958101465353,False,False,True
-1:115726991:C:T,CASQ2,VCV002202832,2202832,NM_001232.4(CASQ2):c.737+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.4284758230741907e-06,5.0,1458374.0,4.505194489246101e-06,5.0,nfe,1.3140516100110182,4.505194489246101e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,-5.464898908745636,-5.346286455787436,0.11861242268405969,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-2.3462864557874368,False,False,True
-1:115744903:G:A,CASQ2,VCV002914975,2914975,NM_001232.4(CASQ2):c.244C>T (p.Gln82Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.423808617315433e-06,5.0,1460362.0,4.501244143881369e-06,5.0,nfe,1.3146890881773796,4.501244143881369e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-5.465490519335655,-5.346667430637412,0.11882305833602977,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-2.3466674306374116,False,False,True
-1:115702947:G:A,CASQ2,VCV001425730,1425730,NM_001232.4(CASQ2):c.988C>T (p.Gln330Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.4213767620090325e-06,5.0,1461400.0,4.497138920218957e-06,5.0,nfe,1.314423671701846,4.497138920218957e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-5.4657990986731795,-5.347063696520862,0.11873537178801932,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-2.3470636965208613,False,False,True
-1:115725508:C:T,CASQ2,VCV000427947,427947,NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.738473082178839e-06,4.0,1460668.0,3.598442594045297e-06,4.0,nfe,1.3140323720654798,3.598442594045297e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,-5.5624915236118255,-5.443885421221095,0.11860606449029754,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-2.443885421221095,False,False,True
-1:115738281:C:A,CASQ2,VCV000654552,654552,NM_001232.4(CASQ2):c.475G>T (p.Glu159Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.7365508786380734e-06,4.0,1461694.0,3.597652891253746e-06,4.0,nfe,1.314666796320421,3.597652891253746e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-5.562796472934832,-5.443980740569425,0.11881569438006946,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-2.443980740569425,False,False,True
-1:237388137:G:T,RYR2,VCV002626900,2626900,NM_001035.3(RYR2):c.727G>T (p.Glu243Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052595712538076e-06,3.0,1461564.0,2.698200839680101e-06,3.0,nfe,1.3145309174463802,2.698200839680101e-06,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,-5.68769658258466,-5.568925726895951,0.11877080506273381,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,-0.9668657355679884,True,False,True
-7:150959571:C:T,KCNH2,VCV000419715,419715,NM_000238.4(KCNH2):c.472+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.0523569951851703e-06,3.0,1461734.0,2.698021271199702e-06,3.0,nfe,1.3145963216598953,2.698021271199702e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,-5.68774709406998,-5.568954630672922,0.11879241275718556,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-0.9668946393449595,True,False,False
-17:70175754:G:T,KCNJ2,VCV000463523,463523,NM_000891.3(KCNJ2):c.715G>T (p.Glu239Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052146408333356e-06,3.0,1461884.0,2.6978320221869704e-06,3.0,nfe,1.3146390026523511,2.6978320221869704e-06,popmax,0.0,False,False,False,False,True,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,-5.687791658149379,-5.568985094733933,0.11880651276515058,anchored_exact,1.0,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-0.9669251034059707,True,False,True
-15:73343471:G:A,HCN4,VCV000571947,571947,NM_005477.3(HCN4):c.1123C>T (p.Arg375Cys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0521492158737845e-06,3.0,1461882.0,2.6978320221869704e-06,3.0,nfe,1.314637204098756,2.6978320221869704e-06,popmax,0.0,False,False,False,False,False,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.50; detectability=0.81,-5.687791063991733,-5.568985094733933,0.11880591860779292,anchored_exact,1.0,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,-0.9669251034059707,True,False,True
-3:38585690:C:A,SCN5A,VCV000406420,406420,NM_000335.5(SCN5A):c.2787+1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.5024444771643463e-06,1.0,665582.0,2.0315788618282585e-06,1.0,nfe,1.3521820876073176,2.0315788618282585e-06,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,-5.823201568381257,-5.6921663145671575,0.13103517852745789,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.0901063232391948,False,False,True
-1:115726990:A:T,CASQ2,VCV001033372,1033372,NM_001232.4(CASQ2):c.737+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.5389374252653512e-06,2.0,1299598.0,1.9958008350430693e-06,2.0,nfe,1.296869193904846,1.9958008350430693e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-5.812779038657447,-5.699882800001281,0.11289617405620116,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-2.6998828000012813,False,False,True
-7:150958430:G:T,KCNH2,VCV000372376,372376,NM_000238.4(KCNH2):c.545C>A (p.Ser182Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.5324754535744223e-06,2.0,1305078.0,1.915719822144572e-06,2.0,nfe,1.2500817338343122,1.915719822144572e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,-5.814606473065701,-5.717668007049792,0.09693840932227195,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.115608015721829,False,False,False
-1:115740727:C:T,CASQ2,VCV002997913,2997913,NM_001232.4(CASQ2):c.420+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3897903223340694e-06,2.0,1439066.0,1.832653113586008e-06,2.0,nfe,1.318654163495695,1.832653113586008e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,-5.857050716812234,-5.7369197309527955,0.12013091034609931,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-2.736919730952795,False,False,True
-12:2566466:G:A,CACNA1C,VCV000372313,372313,NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.385381180704965e-06,2.0,1443646.0,1.8129572051451725e-06,2.0,nfe,1.3086339859103944,1.8129572051451725e-06,popmax,0.0,False,False,False,False,False,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.73; detectability=0.81,-5.858430716202212,-5.741612447304745,0.11681819496408928,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-1.1395524559767827,False,False,True
-3:38575391:C:T,SCN5A,VCV004757644,4757644,NM_000335.5(SCN5A):c.3569G>A (p.Trp1190Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3728588550082577e-06,2.0,1456814.0,1.802120013984452e-06,2.0,nfe,1.3126766052705447,1.802120013984452e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-5.862374110718113,-5.744216290118542,0.11815774524735485,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.1421562987905798,False,False,True
-3:38557230:C:T,SCN5A,VCV001739478,1739478,NM_000335.5(SCN5A):c.4296+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3704318367760864e-06,2.0,1459394.0,1.8015648392193456e-06,2.0,nfe,1.3145962289239144,1.8015648392193456e-06,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,-5.863142560743384,-5.744350102784581,0.11879238212061255,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.1422901114566184,False,False,True
-3:38579405:C:A,SCN5A,VCV003376789,3376789,NM_000335.5(SCN5A):c.3316G>T (p.Glu1106Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.370383008347003e-06,2.0,1459446.0,1.8000990054452994e-06,2.0,nfe,1.313573417728825,1.8000990054452994e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-5.863158034913302,-5.744703608043295,0.1184543512168256,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.1426436167153324,False,False,True
-3:38554314:A:G,SCN5A,VCV002505148,2505148,NM_000335.5(SCN5A):c.4775T>C (p.Ile1592Thr),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,1.3689291414897782e-06,2.0,1460996.0,1.7997555931904448e-06,2.0,nfe,1.3147176314138331,1.7997555931904448e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-5.863619031235198,-5.744786468083148,0.11883248720832675,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.1427264767551852,False,False,True
-11:2445453:G:A,KCNQ1,VCV002801649,2801649,NM_000218.3(KCNQ1):c.355G>A (p.Gly119Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.3843723740186531e-06,2.0,1444698.0,1.7994155498294154e-06,2.0,nfe,1.299805806439304,1.7994155498294154e-06,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,-5.858747075898401,-5.744868530841418,0.11387847269792188,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.142808539513456,False,False,False
-1:115768427:C:A,CASQ2,VCV000488772,488772,NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.368531975749613e-06,2.0,1461420.0,1.7992245342257486e-06,2.0,nfe,1.3147111294415277,1.7992245342257486e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,-5.863745050844741,-5.744914635492492,0.1188303393876778,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-2.744914635492492,False,False,True
-3:38606149:C:T,SCN5A,VCV000463294,463294,NM_000335.5(SCN5A):c.1141-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3687398969886353e-06,2.0,1461198.0,1.7989623585116103e-06,2.0,nfe,1.314319870524441,1.7989623585116103e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-5.86367907344012,-5.744977923737119,0.11870107382181504,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.142917932409157,False,False,True
-3:38585786:C:A,SCN5A,VCV002844180,2844180,NM_000335.5(SCN5A):c.2692G>T (p.Glu898Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.368183708762943e-06,2.0,1461792.0,1.7986646713479913e-06,2.0,nfe,1.314636583662941,1.7986646713479913e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-5.863855585111937,-5.745049795496874,0.11880571364484684,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.1429898041689115,False,False,True
-11:2776984:A:C,KCNQ1,VCV003384908,3384908,NM_000218.3(KCNQ1):c.1686-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3682061722516842e-06,2.0,1461768.0,1.7986582009820674e-06,2.0,nfe,1.3146102706229643,1.7986582009820674e-06,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,-5.863848454717783,-5.745051357794347,0.11879702095930023,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1429913664663844,False,False,False
-4:113355864:C:T,ANK2,VCV002499833,2499833,NM_001148.6(ANK2):c.7246C>T (p.Arg2416Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681743491936664e-06,2.0,1461802.0,1.7986290849114804e-06,2.0,nfe,1.31461956683513,1.7986290849114804e-06,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-5.863858556074949,-5.745058388063428,0.1188000920439111,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.1429983967354658,False,False,True
-4:113311389:C:T,ANK2,VCV003337797,3337797,NM_001148.6(ANK2):c.2683C>T (p.Arg895Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681537585920056e-06,2.0,1461824.0,1.7985837951197228e-06,2.0,nfe,1.3146062489090642,1.7985837951197228e-06,popmax,0.0,False,False,False,False,False,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.61; detectability=0.81,-5.863865092122038,-5.745069323811355,0.11879569234437509,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.1430093324833928,False,False,True
-7:150952811:G:A,KCNH2,VCV003340202,3340202,NM_000238.4(KCNH2):c.1171C>T (p.Gln391Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681780930060105e-06,2.0,1461798.0,1.7985611510791366e-06,2.0,nfe,1.3145663168463837,1.7985611510791366e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,-5.863857367692184,-5.7450747915820575,0.11878250015250426,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1430148002540952,False,False,False
-11:2662047:G:T,KCNQ1,VCV002773480,2773480,NM_000218.3(KCNQ1):c.1480G>T (p.Glu494Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3680994772491897e-06,2.0,1461882.0,1.7985417423552984e-06,2.0,nfe,1.3146276697246606,1.7985417423552984e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.64; detectability=0.81,-5.863882323047414,-5.745079478187869,0.11880276888628769,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1430194868599073,False,False,False
-4:113373351:C:T,ANK2,VCV000985692,985692,NM_001148.6(ANK2):c.11761C>T (p.Gln3921Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681575022916638e-06,,,1.3681575022916638e-06,,,7.309094657709624e-07,1.3681575022916638e-06,global,0.0,False,False,False,False,False,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.61; detectability=0.81,-5.8638639037571565,-5.8638639037571565,-6.136136413672907,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.261803912429194,False,False,True
-1:237491910:G:A,RYR2,VCV004800056,4800056,NM_001035.3(RYR2):c.1813G>A (p.Gly605Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,8.828400611631594e-07,1.0,1132708.0,1.188591424075157e-06,1.0,nfe,1.346326622494387,1.188591424075157e-06,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,-6.054117967821953,-5.924967407588051,0.12915043369103862,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,-1.3229074162600885,False,False,True
-6:123265339:C:A,TRDN,VCV003780743,3780743,NM_006073.4(TRDN):c.1784-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.908301660585183e-07,1.0,1264494.0,1.009801129765504e-06,1.0,nfe,1.2768871196595997,1.009801129765504e-06,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,-6.101916772966249,-5.995764147751594,0.10615250613124208,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-2.9957641477515944,False,False,True
-6:123547339:C:A,TRDN,VCV002434223,2434223,NM_006073.4(TRDN):c.424+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.672194738715736e-07,1.0,1303408.0,9.723786131158318e-07,1.0,nfe,1.2674057148253322,9.723786131158318e-07,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,-6.115080382261232,-6.01216460177021,0.10291566105931012,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.0121646017702104,False,False,True
-7:150948443:C:T,KCNH2,VCV003253477,3253477,NM_000238.4(KCNH2):c.2692+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.140001142400183e-07,1.0,1400560.0,9.379947922529134e-07,1.0,nfe,1.3137175468574929,9.379947922529134e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,-6.146301718736703,-6.027799572817206,0.11850200066728123,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4257395814892433,False,False,False
-7:150947870:G:A,KCNH2,VCV000927383,927383,NM_000238.4(KCNH2):c.2701C>T (p.Gln901Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.256662341695911e-07,1.0,1378044.0,9.289001265161972e-07,1.0,nfe,1.2800648600031863,9.289001265161972e-07,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,-6.139263084518002,-6.032030977970395,0.10723197560711273,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4299709866424328,False,False,False
-1:115740830:T:C,CASQ2,VCV003236407,3236407,NM_001232.4(CASQ2):c.320-2A>G,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.904131984910329e-07,1.0,1448408.0,9.091454578183782e-07,1.0,nfe,1.3168130953931796,9.091454578183782e-07,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,-6.160890914892737,-6.04136662670755,0.11952413684504527,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.0413666267075494,False,False,True
-3:38622399:C:G,SCN5A,VCV001743359,1743359,NM_000335.5(SCN5A):c.482+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.915447588514272e-07,1.0,1446038.0,9.088017448993502e-07,1.0,nfe,1.3141614033014393,9.088017448993502e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-6.160179705803235,-6.04153084778685,0.11864870788618453,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4394708564588883,False,False,True
-7:150947500:C:T,KCNH2,VCV003544410,3544410,NM_000238.4(KCNH2):c.2980G>A (p.Val994Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.956705638131652e-07,1.0,1437462.0,9.081860255599876e-07,1.0,nfe,1.3054824615540808,9.081860255599876e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,-6.1575963727297065,-6.041825184959691,0.11577104168830236,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.439765193631729,False,False,False
-3:38609733:C:T,SCN5A,VCV001072847,1072847,NM_000335.5(SCN5A):c.934+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.89303389994072e-07,1.0,1450740.0,9.06547630919076e-07,1.0,nfe,1.315164452857862,9.06547630919076e-07,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,-6.161589585640299,-6.042609372702631,0.11898006195364752,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4405493813746684,False,False,True
-3:38556452:G:A,SCN5A,VCV002506125,2506125,NM_000335.5(SCN5A):c.4423C>T (p.Gln1475Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.918940461133544e-07,1.0,1445308.0,9.058397678151508e-07,1.0,nfe,1.3092170162275525,9.058397678151508e-07,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,-6.159960406571302,-6.042948617011904,0.11701164130882298,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4408886256839415,False,False,True
-1:115768539:C:T,CASQ2,VCV002811031,2811031,NM_001232.4(CASQ2):c.3G>A (p.Met1Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.879301283127276e-07,1.0,1453636.0,9.052477210388624e-07,1.0,nfe,1.3159002170161198,9.052477210388624e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-6.162455669946475,-6.043232559845933,0.11922295854672765,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.0432325598459324,False,False,True
-12:2448979:C:T,CACNA1C,VCV001208559,1208559,NM_000719.7(CACNA1C):c.481C>T (p.Arg161Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.877020984541832e-07,1.0,1454118.0,9.03404389099884e-07,1.0,nfe,1.3136561273761245,9.03404389099884e-07,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,-6.162599650449773,-6.044117803793188,0.11848169587234009,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-1.442057812465226,False,False,True
-3:38620870:C:T,SCN5A,VCV004614939,4614939,NM_000335.5(SCN5A):c.584G>A (p.Trp195Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.886388364758219e-07,1.0,1452140.0,9.031253556056088e-07,1.0,nfe,1.3114640015997934,9.031253556056088e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-6.16200848846908,-6.044251964559872,0.11775637413252348,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4421919732319097,False,False,True
-3:38556580:T:G,SCN5A,VCV004723996,4723996,NM_000335.5(SCN5A):c.4297-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.868782892884078e-07,1.0,1455862.0,9.02880731261162e-07,1.0,nfe,1.3144692893514494,9.02880731261162e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-6.163120210499755,-6.044369615330105,0.11875044390681275,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4423096240021422,False,False,True
-1:115732900:C:A,CASQ2,VCV003485292,3485292,NM_001232.4(CASQ2):c.606+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.861675483919663e-07,1.0,1457370.0,9.025515131276118e-07,1.0,nfe,1.3153510391036438,9.025515131276118e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-6.163569825317389,-6.044528001357354,0.11904167221773877,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.044528001357354,False,False,True
-1:115705285:G:T,CASQ2,VCV002794330,2794330,NM_001232.4(CASQ2):c.846C>A (p.Tyr282Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.86050803434096e-07,1.0,1457618.0,9.023935085420568e-07,1.0,nfe,1.3153445614821466,9.023935085420568e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-6.163643722727445,-6.044604037490281,0.1190395334714152,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.044604037490281,False,False,True
-3:38556579:C:T,SCN5A,VCV002203336,2203336,NM_000335.5(SCN5A):c.4297-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.857092702407663e-07,1.0,1458344.0,9.01297146853752e-07,1.0,nfe,1.3144008278267272,9.01297146853752e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-6.163859979180978,-6.045132003733958,0.11872782395140151,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4430720124059953,False,False,True
-1:115732970:G:T,CASQ2,VCV002865838,2865838,NM_001232.4(CASQ2):c.537C>A (p.Tyr179Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.853596219008038e-07,1.0,1459088.0,9.012305401795612e-07,1.0,nfe,1.31497420683443,9.012305401795612e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-6.164081485698723,-6.045164099674874,0.11891723424072807,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.045164099674875,False,False,True
-6:123636754:C:G,TRDN,VCV003225249,3225249,NM_006073.4(TRDN):c.22G>C (p.Gly8Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.851398644519292e-07,1.0,1459556.0,9.005195998090898e-07,1.0,nfe,1.3143583261953748,9.005195998090898e-07,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,-6.1642207625816,-6.045506830322182,0.11871378065348921,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.0455068303221817,False,False,True
-3:38609765:C:T,SCN5A,VCV003338801,3338801,NM_000335.5(SCN5A):c.903G>A (p.Trp301Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.850206533726992e-07,1.0,1459810.0,9.004985159784457e-07,1.0,nfe,1.3145562794180925,9.004985159784457e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-6.164296334331549,-6.0455169985611645,0.11877918406543736,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4434570072332018,False,False,True
-3:38562434:G:C,SCN5A,VCV003367171,3367171,NM_000335.5(SCN5A):c.3941C>G (p.Ser1314Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,LOF,6.854404228893233e-07,1.0,1458916.0,9.002407243696964e-07,1.0,nfe,1.313375139446535,9.002407243696964e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-6.164030287241851,-6.0456413446868185,0.11838879137644873,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4435813533588564,False,False,True
-3:38622461:T:C,SCN5A,VCV002734486,2734486,NM_000335.5(SCN5A):c.421A>G (p.Ile141Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.851135781289822e-07,1.0,1459612.0,9.00009000090001e-07,1.0,nfe,1.3136634788123889,9.00009000090001e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-6.164237425199845,-6.045753147594141,0.1184841262490603,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4436931562661788,False,False,True
-7:150974870:C:A,KCNH2,VCV003720794,3720794,NM_000238.4(KCNH2):c.148G>T (p.Glu50Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.851408032864834e-07,1.0,1459554.0,8.998972317361358e-07,1.0,nfe,1.3134481466749075,8.998972317361358e-07,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,-6.164220167476267,-6.045807084158768,0.11841293204597676,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4437470928308056,False,False,False
-11:2572011:A:C,KCNQ1,VCV000573008,573008,NM_000218.3(KCNQ1):c.684-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.850675819169561e-07,1.0,1459710.0,8.997595842390913e-07,1.0,nfe,1.3133876052546227,8.997595842390913e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,-6.164266583243557,-6.045873518545591,0.11839291343252398,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4438135272176287,False,False,False
-4:113345930:C:T,ANK2,VCV003338732,3338732,NM_001148.6(ANK2):c.4279C>T (p.Arg1427Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.843043840644669e-07,1.0,1461338.0,8.996155043334479e-07,1.0,nfe,1.3146418620735227,8.996155043334479e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-6.164750677643749,-6.045943068367087,0.11880745738149259,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4438830770391253,False,False,True
-11:2572021:G:T,KCNQ1,VCV000519257,519257,NM_000218.3(KCNQ1):c.692G>T (p.Arg231Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.8483018950621e-07,1.0,1460216.0,8.9957989618848e-07,1.0,nfe,1.3135804997974945,8.9957989618848e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,-6.164417102818398,-6.045960258741038,0.11845669268857806,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4439002674130756,False,False,False
-3:38606682:C:A,SCN5A,VCV003338339,3338339,NM_000335.5(SCN5A):c.1127G>T (p.Arg376Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.845236057965459e-07,1.0,1460870.0,8.995620931730434e-07,1.0,nfe,1.314142816131888,8.995620931730434e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-6.164611570626542,-6.045968853672857,0.11864256529042963,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4439088623448948,False,False,True
-1:237445485:A:T,RYR2,VCV003720290,3720290,NM_001035.3(RYR2):c.1255A>T (p.Ile419Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842641150001642e-07,1.0,1461424.0,8.995378174693842e-07,1.0,nfe,1.3146056955850631,8.995378174693842e-07,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,-6.1647762351988655,-6.04598057376031,0.11879550954773074,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,-1.443920582432347,False,False,True
-1:237441382:G:A,RYR2,VCV000519533,519533,NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842332140486764e-07,1.0,1461490.0,8.995167795860064e-07,1.0,nfe,1.3146343183622424,8.995167795860064e-07,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,-6.16479584811653,-6.045990730913602,0.11880496529473009,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,-1.44393073958564,False,False,True
-1:115768343:G:A,CASQ2,VCV001784131,1784131,NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842023158879988e-07,1.0,1461556.0,8.995151613280442e-07,1.0,nfe,1.3146913211909823,8.995151613280442e-07,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,-6.164815460148506,-6.045991512223247,0.11882379598926718,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.0459915122232473,False,False,True
-3:38557231:C:A,SCN5A,VCV001527872,1527872,NM_000335.5(SCN5A):c.4296G>T (p.Gly1432=),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,other_or_unresolved,6.842828442079563e-07,1.0,1461384.0,8.995119248295874e-07,1.0,nfe,1.314531875103312,8.995119248295874e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-6.164764348151015,-6.04599307483832,0.11877112145313894,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4439330835103572,False,False,True
-1:115701358:C:T,CASQ2,VCV002574853,2574853,NM_001232.4(CASQ2):c.1083G>A (p.Trp361Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.841751652625111e-07,1.0,1461614.0,8.994730886646602e-07,1.0,nfe,1.3146819990718934,8.994730886646602e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,-6.164832694233389,-6.046011825780659,0.11882071651413235,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.046011825780659,False,False,True
-4:113317711:C:T,ANK2,VCV002631072,2631072,NM_001148.6(ANK2):c.2698C>T (p.Arg900Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842659878748067e-07,1.0,1461420.0,8.994682343798347e-07,1.0,nfe,1.3145004074701925,8.994682343798347e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-6.164775046508722,-6.046014169591529,0.11876072506545396,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4439541782635663,False,False,True
-3:38585767:C:T,SCN5A,VCV004747274,4747274,NM_000335.5(SCN5A):c.2711G>A (p.Trp904Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.841536335399477e-07,1.0,1461660.0,8.994035155884617e-07,1.0,nfe,1.3146216827251025,8.994035155884617e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,-6.164846362159262,-6.046045419194488,0.11880079104354802,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4439854278665258,False,False,True
-1:237784136:G:A,RYR2,VCV001009997,1009997,NM_001035.3(RYR2):c.12424G>A (p.Ala4142Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.841424001357339e-07,1.0,1461684.0,8.993986620545503e-07,1.0,nfe,1.3146361740478818,8.993986620545503e-07,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,-6.164853493080266,-6.046047762824068,0.11880557832715535,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,-1.4439877714961054,False,False,True
-4:113353464:T:C,ANK2,VCV004689790,4689790,NM_001148.6(ANK2):c.4846T>C (p.Cys1616Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840993421700726e-07,1.0,1461776.0,8.993210126354602e-07,1.0,nfe,1.314605412683571,8.993210126354602e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-6.164880827192824,-6.046085259177423,0.11879541608809442,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4440252678494607,False,False,True
-11:2585278:C:T,KCNQ1,VCV001791538,1791538,NM_000218.3(KCNQ1):c.1099C>T (p.Gln367Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.841676758139885e-07,1.0,1461630.0,8.993096898820465e-07,1.0,nfe,1.3144575624016888,8.993096898820465e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,-6.164837448343351,-6.046090727125146,0.1187465693603854,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440307357971842,False,False,False
-4:113341707:C:T,ANK2,VCV003376712,3376712,NM_001148.6(ANK2):c.3913C>T (p.Arg1305Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840834308152222e-07,1.0,1461810.0,8.992999848917603e-07,1.0,nfe,1.3146052510215225,8.992999848917603e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,-6.1648909284947075,-6.0460954138826875,0.11879536268124002,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4440354225547252,False,False,True
-11:2777974:A:G,KCNQ1,VCV001415094,1415094,NM_000218.3(KCNQ1):c.1733-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842163601605445e-07,1.0,1461526.0,8.992951324751659e-07,1.0,nfe,1.3143427583657852,8.992951324751659e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,-6.164806545698307,-6.046097757242491,0.11870863665098107,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440377659145291,False,False,False
-4:113330289:C:T,ANK2,VCV000809661,809661,NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840693919991244e-07,1.0,1461840.0,8.992935150146045e-07,1.0,nfe,1.3146227720607964,8.992935150146045e-07,popmax,0.0,False,False,False,False,False,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.61; detectability=0.81,-6.164899841213027,-6.046098538359616,0.11880115091307626,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.444038547031654,False,False,True
-17:70176216:G:T,KCNJ2,VCV000638351,638351,NM_000891.3(KCNJ2):c.1177G>T (p.Gly393Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840750074564176e-07,1.0,1461828.0,8.992886626678298e-07,1.0,nfe,1.314604887272155,8.992886626678298e-07,popmax,0.0,False,False,False,False,True,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,-6.1648962761476485,-6.046100881702562,0.11879524251256973,anchored_exact,1.0,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-1.444040890374599,False,False,True
-15:73329725:C:T,HCN4,VCV000970883,970883,NM_005477.3(HCN4):c.1438G>A (p.Gly480Ser),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840675202005138e-07,1.0,1461844.0,8.992870452305412e-07,1.0,nfe,1.314616911427151,8.992870452305412e-07,popmax,0.0,False,False,False,False,False,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.50; detectability=0.81,-6.16490102956165,-6.046101662814067,0.1187992148089861,anchored_exact,1.0,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,-1.4440416714861042,False,False,True
-11:2572904:T:C,KCNQ1,VCV002735505,2735505,NM_000218.3(KCNQ1):c.839T>C (p.Val280Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842322776997754e-07,1.0,1461492.0,8.992854277990709e-07,1.0,nfe,1.3142979991009085,8.992854277990709e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,-6.164796442433541,-6.046102443924167,0.11869384672451685,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440424525962046,False,False,False
-15:73329721:T:C,HCN4,VCV001504964,1504964,NM_005477.3(HCN4):c.1442A>G (p.Tyr481Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840656484121468e-07,1.0,1461848.0,8.992838103734187e-07,1.0,nfe,1.314615779706313,8.992838103734187e-07,popmax,0.0,False,False,False,False,True,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,-6.164902217907022,-6.046103225032862,0.11879884093556156,anchored_exact,1.0,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,-1.4440432337049,False,False,True
-7:150950951:C:T,KCNH2,VCV001405357,1405357,NM_000238.4(KCNH2):c.2115G>A (p.Trp705Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840506744739651e-07,1.0,1461880.0,8.992741059416839e-07,1.0,nfe,1.3146303700421835,8.992741059416839e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,-6.164911724552935,-6.0461079116555325,0.1188036609501185,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440479203275705,False,False,False
-17:70175958:A:G,KCNJ2,VCV000519476,519476,NM_000891.3(KCNJ2):c.919A>G (p.Met307Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840478669335365e-07,1.0,1461886.0,8.992741059416839e-07,1.0,nfe,1.3146357656770435,8.992741059416839e-07,popmax,0.0,False,False,False,False,False,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.50; detectability=0.81,-6.164913507025877,-6.0461079116555325,0.11880544342045442,anchored_exact,1.0,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-1.4440479203275705,False,False,True
-7:150951556:T:C,KCNH2,VCV002049671,2049671,NM_000238.4(KCNH2):c.1837A>G (p.Thr613Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840488027777854e-07,1.0,1461884.0,8.992708711776492e-07,1.0,nfe,1.314629238289217,8.992708711776492e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,-6.164912912869042,-6.046109473851851,0.11880328706990778,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440494825238885,False,False,False
-7:150958158:G:A,KCNH2,VCV001076382,1076382,NM_000238.4(KCNH2):c.817C>T (p.Arg273Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,8.45374281009174e-07,,,8.45374281009174e-07,,,1.1829066007303187e-06,8.45374281009174e-07,global,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,-6.072950968933901,-6.072950968933901,-5.927049544796213,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4708909776059382,False,False,False
-11:2571404:G:T,KCNQ1,VCV004614411,4614411,NM_000218.3(KCNQ1):c.683+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1457628.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445143:G:A,KCNQ1,VCV004531894,4531894,NM_000218.3(KCNQ1):c.45G>A (p.Trp15Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,978626.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2571378:C:T,KCNQ1,VCV004081467,4081467,NM_000218.3(KCNQ1):c.658C>T (p.Gln220Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1460484.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572057:G:T,KCNQ1,VCV002904944,2904944,NM_000218.3(KCNQ1):c.728G>T (p.Arg243Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1460642.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445447:C:A,KCNQ1,VCV001489978,1489978,NM_000218.3(KCNQ1):c.349C>A (p.Pro117Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1445140.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2775960:C:T,KCNQ1,VCV000965523,965523,NM_000218.3(KCNQ1):c.1591C>T (p.Gln531Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1404394.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445251:C:A,KCNQ1,VCV000933168,933168,NM_000218.3(KCNQ1):c.153C>A (p.Tyr51Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1046344.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2570756:T:C,KCNQ1,VCV000869440,869440,NM_000218.3(KCNQ1):c.604+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1458098.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445149:G:A,KCNQ1,VCV000663623,663623,NM_000218.3(KCNQ1):c.51G>A (p.Trp17Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,983778.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2776056:T:C,KCNQ1,VCV000637975,637975,NM_000218.3(KCNQ1):c.1685+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1402144.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445100:T:A,KCNQ1,VCV000488859,488859,NM_000218.3(KCNQ1):c.2T>A (p.Met1Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,936200.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445222:G:T,KCNQ1,VCV000488698,488698,NM_000218.3(KCNQ1):c.124G>T (p.Glu42Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,987170.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572089:G:A,KCNQ1,VCV000444879,444879,NM_000218.2(KCNQ1):c.[1249G>A;760G>A],Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,other_or_unresolved,0.0,0.0,1460076.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445103:C:G,KCNQ1,VCV000431053,431053,NM_000218.3(KCNQ1):c.5C>G (p.Ala2Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,940006.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445213:G:T,KCNQ1,VCV000375455,375455,NM_000218.3(KCNQ1):c.115G>T (p.Glu39Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,992758.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958504:T:G,KCNH2,VCV004730168,4730168,NM_000238.4(KCNH2):c.473-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1323936.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974834:G:A,KCNH2,VCV004725502,4725502,NM_000238.4(KCNH2):c.184C>T (p.Arg62Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1456028.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947786:C:A,KCNH2,VCV003895444,3895444,NM_000238.4(KCNH2):c.2785G>T (p.Glu929Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1381744.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958442:G:T,KCNH2,VCV003730888,3730888,NM_000238.4(KCNH2):c.533C>A (p.Ser178Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1311954.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950422:T:C,KCNH2,VCV003720789,3720789,NM_000238.4(KCNH2):c.2146-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1458974.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948486:G:A,KCNH2,VCV003720786,3720786,NM_000238.4(KCNH2):c.2650C>T (p.Gln884Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1373460.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948443:C:A,KCNH2,VCV003544414,3544414,NM_000238.4(KCNH2):c.2692+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1400560.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958110:C:A,KCNH2,VCV003338695,3338695,NM_000238.4(KCNH2):c.865G>T (p.Glu289Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1144896.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150945490:C:A,KCNH2,VCV003254535,3254535,NM_000238.4(KCNH2):c.3355G>T (p.Glu1119Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1407476.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958287:C:A,KCNH2,VCV002831712,2831712,NM_000238.4(KCNH2):c.688G>T (p.Glu230Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1311050.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958446:C:A,KCNH2,VCV002136630,2136630,NM_000238.4(KCNH2):c.529G>T (p.Glu177Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1314472.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947458:G:A,KCNH2,VCV001968021,1968021,NM_000238.4(KCNH2):c.3022C>T (p.Gln1008Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1416682.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958335:C:A,KCNH2,VCV001810619,1810619,NM_000238.4(KCNH2):c.640G>T (p.Glu214Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1337032.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974768:G:A,KCNH2,VCV001792370,1792370,NM_000238.4(KCNH2):c.250C>T (p.Gln84Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1453842.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947344:G:A,KCNH2,VCV001728012,1728012,NM_000238.4(KCNH2):c.3136C>T (p.Gln1046Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1391714.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958504:T:C,KCNH2,VCV001466419,1466419,NM_000238.4(KCNH2):c.473-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1323936.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974786:C:T,KCNH2,VCV001197726,1197726,NM_000238.4(KCNH2):c.232G>A (p.Ala78Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1452442.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974942:C:A,KCNH2,VCV001171507,1171507,NM_000238.4(KCNH2):c.77-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1440802.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150977837:C:T,KCNH2,VCV001066606,1066606,NM_000238.4(KCNH2):c.76+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1395200.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950166:A:T,KCNH2,VCV000560686,560686,NM_000238.4(KCNH2):c.2398+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,550050.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947327:C:A,KCNH2,VCV000373026,373026,NM_000238.4(KCNH2):c.3152+1G>T,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1388730.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-3:38550937:G:T,SCN5A,VCV004756584,4756584,NM_000335.5(SCN5A):c.5432C>A (p.Ser1811Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461814.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38613754:G:C,SCN5A,VCV003950971,3950971,NM_000335.5(SCN5A):c.692C>G (p.Ser231Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1450430.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38597755:C:A,SCN5A,VCV003717482,3717482,NM_000335.5(SCN5A):c.2236G>T (p.Glu746Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1456158.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581200:G:A,SCN5A,VCV003662749,3662749,NM_000335.5(SCN5A):c.2959C>T (p.Gln987Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1458838.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38560152:G:A,SCN5A,VCV003662441,3662441,NM_000335.5(SCN5A):c.4237C>T (p.Gln1413Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1459868.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38606687:C:T,SCN5A,VCV002910169,2910169,NM_000335.5(SCN5A):c.1122G>A (p.Trp374Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461218.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38579496:C:T,SCN5A,VCV001965471,1965471,NM_001099404.2(SCN5A):c.3229-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1455140.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38613808:C:T,SCN5A,VCV001684121,1684121,NM_000335.5(SCN5A):c.638G>A (p.Gly213Asp),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1457634.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38556559:C:T,SCN5A,VCV001375303,1375303,NM_000335.5(SCN5A):c.4316G>A (p.Trp1439Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461152.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38566558:C:A,SCN5A,VCV000979202,979202,NM_000335.5(SCN5A):c.3688G>T (p.Glu1230Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461610.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38613824:C:A,SCN5A,VCV000858096,858096,NM_000335.5(SCN5A):c.622G>T (p.Glu208Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1455108.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-21:34449585:C:T,KCNE1,VCV000547163,547163,NM_000219.6(KCNE1):c.50G>A (p.Trp17Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,LOF,0.0,0.0,908958.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.4166666666666667,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.42; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False
-1:237828429:T:C,RYR2,VCV004746934,4746934,NM_001035.3(RYR2):c.14639T>C (p.Val4880Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1413372.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237795313:C:A,RYR2,VCV002828493,2828493,NM_001035.3(RYR2):c.13938C>A (p.Asp4646Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1276004.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237491911:G:T,RYR2,VCV002737123,2737123,NM_001035.3(RYR2):c.1814G>T (p.Gly605Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1129636.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237772037:G:T,RYR2,VCV002203008,2203008,NM_001035.3(RYR2):c.11583G>T (p.Gln3861His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1394334.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237778753:C:A,RYR2,VCV001804987,1804987,NM_001035.3(RYR2):c.11863C>A (p.Gln3955Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1448574.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237042549:G:T,RYR2,VCV001678118,1678118,NM_001035.3(RYR2):c.28G>T (p.Glu10Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1108862.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237772077:G:T,RYR2,VCV001480581,1480581,NM_001035.3(RYR2):c.11623G>T (p.Val3875Leu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1386722.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237828428:G:A,RYR2,VCV001439521,1439521,NM_001035.3(RYR2):c.14638G>A (p.Val4880Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1413512.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237772075:C:T,RYR2,VCV001328938,1328938,NM_001035.3(RYR2):c.11621C>T (p.Thr3874Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,,,0.0,,,1.0,0.0,global,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237772033:C:T,RYR2,VCV001035886,1035886,NM_001035.3(RYR2):c.11579C>T (p.Thr3860Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,,,0.0,,,1.0,0.0,global,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237784046:G:A,RYR2,VCV001021015,1021015,NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1461680.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237783718:G:A,RYR2,VCV000869430,869430,NM_001035.3(RYR2):c.12006G>A (p.Met4002Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1459208.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237772044:A:G,RYR2,VCV000656670,656670,NM_001035.3(RYR2):c.11590A>G (p.Asn3864Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1400372.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237772078:T:C,RYR2,VCV000581079,581079,NM_001035.3(RYR2):c.11624T>C (p.Val3875Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1384914.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237369568:A:G,RYR2,VCV000572162,572162,NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1412948.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237042565:G:C,RYR2,VCV000463600,463600,NM_001035.3(RYR2):c.44G>C (p.Arg15Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1109590.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237772077:G:A,RYR2,VCV000404183,404183,NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1386722.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:115705191:C:T,CASQ2,VCV002754358,2754358,NM_001232.4(CASQ2):c.939+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1449556.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115726993:T:A,CASQ2,VCV002505552,2505552,NM_001232.4(CASQ2):c.736A>T (p.Arg246Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1209268.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115702920:C:T,CASQ2,VCV001457736,1457736,NM_001232.4(CASQ2):c.1014+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1459946.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123512333:C:A,TRDN,VCV003894738,3894738,NM_006073.4(TRDN):c.580G>T (p.Glu194Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1350466.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123438943:C:T,TRDN,VCV003717909,3717909,NM_006073.4(TRDN):c.991+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1406010.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123547340:C:A,TRDN,VCV002762883,2762883,NM_006073.4(TRDN):c.424G>T (p.Glu142Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1302576.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123278327:C:A,TRDN,VCV002434224,2434224,NM_006073.4(TRDN):c.1558G>T (p.Glu520Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1144364.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123548540:C:T,TRDN,VCV001799347,1799347,NM_006073.4(TRDN):c.305G>A (p.Trp102Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1423754.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123548453:C:T,TRDN,VCV001517713,1517713,NM_006073.4(TRDN):c.391+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1401032.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.39; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-2:47160803:C:G,CALM2,VCV001467722,1467722,NM_001743.6(CALM2):c.423G>C (p.Glu141Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1220958.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.75,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.75; detectability=0.81,,,0.0,anchored_exact,1.0,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-4:113264996:G:A,ANK2,VCV003721367,3721367,NM_001148.6(ANK2):c.1485+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1405178.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113264927:C:T,ANK2,VCV002446019,2446019,NM_001148.6(ANK2):c.1417C>T (p.Arg473Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1415518.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,,,0.0,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2595878:C:T,CACNA1C,VCV003899523,3899523,NM_000719.7(CACNA1C):c.2668C>T (p.Arg890Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1461100.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2566430:G:A,CACNA1C,VCV003601972,3601972,NM_000719.7(CACNA1C):c.1517G>A (p.Trp506Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1440630.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2566465:C:A,CACNA1C,VCV003233417,3233417,NM_000719.7(CACNA1C):c.1552C>A (p.Arg518Ser),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,0.0,0.0,1443586.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2581622:C:T,CACNA1C,VCV001707563,1707563,NM_000719.7(CACNA1C):c.1928C>T (p.Ser643Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1426284.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2666684:A:G,CACNA1C,VCV001218634,1218634,NM_000719.7(CACNA1C):c.4527-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1427552.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-11:2571331:T:TC,KCNQ1,VCV004811016,4811016,NM_000218.3(KCNQ1):c.612dup (p.Val205fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2585246:A:AGCAGAAGCAGAG,KCNQ1,VCV004750132,4750132,NM_000218.3(KCNQ1):c.1077_1088dup (p.Lys362_His363insGlnArgGlnLys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445473:C:G,KCNQ1,VCV004732891,4732891,NM_000218.3(KCNQ1):c.375C>G (p.Tyr125Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2778034:C:CA,KCNQ1,VCV004719475,4719475,NM_000218.3(KCNQ1):c.1793dup (p.Val599fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2527967:GT:G,KCNQ1,VCV004714005,4714005,NM_000218.3(KCNQ1):c.427del (p.Ser143fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583471:C:A,KCNQ1,VCV004709530,4709530,NM_000218.3(KCNQ1):c.958C>A (p.Pro320Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2777975:G:A,KCNQ1,VCV004688928,4688928,NM_000218.3(KCNQ1):c.1733-1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572936:TC:T,KCNQ1,VCV004278376,4278376,NM_000218.3(KCNQ1):c.872del (p.Glu290_Ser291insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2768837:ACTGCAGG:A,KCNQ1,VCV004090692,4090692,NM_000218.3(KCNQ1):c.1515-2_1519del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2778007:C:CA,KCNQ1,VCV004084700,4084700,NM_000218.3(KCNQ1):c.1764_1765insA (p.Gly589fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2777984:AAGGATCGCGGC:A,KCNQ1,VCV004084699,4084699,NM_000218.3(KCNQ1):c.1744_1754del (p.Asp582fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2775999:CAGTAC:GTGAG,KCNQ1,VCV004076475,4076475,NM_000218.3(KCNQ1):c.1630_1635delinsGTGAG (p.Gln544fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572977:G:A,KCNQ1,VCV004070996,4070996,NM_000218.3(KCNQ1):c.912G>A (p.Trp304Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2778014:C:G,KCNQ1,VCV003901502,3901502,NM_000218.3(KCNQ1):c.1771C>G (p.Arg591Gly),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2585274:C:G,KCNQ1,VCV003898708,3898708,NM_000218.3(KCNQ1):c.1095C>G (p.Asn365Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2585218:C:T,KCNQ1,VCV003895224,3895224,NM_000218.3(KCNQ1):c.1039C>T (p.Leu347Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2768895:C:G,KCNQ1,VCV003895223,3895223,NM_000218.3(KCNQ1):c.1566C>G (p.Tyr522Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2775970:AG:A,KCNQ1,VCV003894930,3894930,NM_000218.3(KCNQ1):c.1602del (p.Lys534fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2775959:G:C,KCNQ1,VCV003894017,3894017,NM_000218.3(KCNQ1):c.1591-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2662020:TTCGCC:T,KCNQ1,VCV003893245,3893245,NM_000218.3(KCNQ1):c.1454_1458del (p.Ser484_Phe485insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2662017:AGC:A,KCNQ1,VCV003893242,3893242,NM_000218.3(KCNQ1):c.1451_1452del (p.Ser484fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2571344:C:TT,KCNQ1,VCV003862988,3862988,NM_000218.3(KCNQ1):c.624delinsTT (p.Ser209fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2571394:C:A,KCNQ1,VCV003774956,3774956,NM_000218.3(KCNQ1):c.674C>A (p.Ser225Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583446:CACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGGTCGGGAAG:C,KCNQ1,VCV003769591,3769591,NM_000218.3(KCNQ1):c.941_985del (p.Gly314_Ile328del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2768920:G:C,KCNQ1,VCV003726879,3726879,NM_000218.3(KCNQ1):c.1590+1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2527959:A:C,KCNQ1,VCV003719869,3719869,NM_000218.3(KCNQ1):c.418A>C (p.Ser140Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2570713:G:A,KCNQ1,VCV003693769,3693769,NM_000218.3(KCNQ1):c.563G>A (p.Trp188Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2587651:ACT:A,KCNQ1,VCV003669101,3669101,NM_000218.3(KCNQ1):c.1213_1214del (p.Leu405fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572945:GTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTG:CAC,KCNQ1,VCV003660922,3660922,NM_000218.3(KCNQ1):c.880_921+630delinsCAC,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2768890:C:T,KCNQ1,VCV003659274,3659274,NM_000218.3(KCNQ1):c.1561C>T (p.Gln521Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2528014:G:A,KCNQ1,VCV003659247,3659247,NM_000218.3(KCNQ1):c.473G>A (p.Trp158Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445162:G:GGC,KCNQ1,VCV003648787,3648787,NM_000218.3(KCNQ1):c.67_68dup (p.Arg24fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572032:A:C,KCNQ1,VCV003641656,3641656,NM_000218.3(KCNQ1):c.703A>C (p.Ile235Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572026:C:A,KCNQ1,VCV003603667,3603667,NM_000218.3(KCNQ1):c.697C>A (p.Leu233Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2570626:A:G,KCNQ1,VCV003601179,3601179,NM_000218.3(KCNQ1):c.478-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2776985:G:T,KCNQ1,VCV003392793,3392793,NM_000218.3(KCNQ1):c.1686-1G>T,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2661995:GC:G,KCNQ1,VCV003383201,3383201,NM_000218.3(KCNQ1):c.1432del (p.His478fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2588714:TAAAG:T,KCNQ1,VCV003383071,3383071,NM_000218.3(KCNQ1):c.1257_1260del (p.Lys421fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572073:G:A,KCNQ1,VCV003382790,3382790,NM_000218.3(KCNQ1):c.744G>A (p.Trp248Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583540:C:G,KCNQ1,VCV003376696,3376696,NM_000218.3(KCNQ1):c.1027C>G (p.Pro343Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2585209:CA:C,KCNQ1,VCV003376665,3376665,NM_000218.3(KCNQ1):c.1033-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445419:G:C,KCNQ1,VCV003376650,3376650,NM_000218.3(KCNQ1):c.321G>C (p.Gln107His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2585213:G:T,KCNQ1,VCV003338779,3338779,NM_000218.3(KCNQ1):c.1034G>T (p.Gly345Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2570658:G:A,KCNQ1,VCV003338330,3338330,NM_000218.3(KCNQ1):c.508G>A (p.Glu170Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445320:AG:A,KCNQ1,VCV003337204,3337204,NM_000218.3(KCNQ1):c.223del (p.Val75fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445305:GC:G,KCNQ1,VCV003335922,3335922,NM_000218.3(KCNQ1):c.210del (p.Ala71fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2778014:C:A,KCNQ1,VCV003235934,3235934,NM_000218.3(KCNQ1):c.1771C>A (p.Arg591Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2847776:CTGGACCAGAGGCTGGCACTCATCACCGACATGCTTCACCAGCTGCTCTCCTTGCACGGTGGCAGCACCCCCGGCAGCGGCGGCCCCCCCAGAGAGGGCGGGGCCCACATCACCCAGCCCTGCGGCAGTGGCGGCTCCGTCGACCCTGAGCTCTTCCTGCCCAGCAACACCCTGCCCACCTACGAGCAGCTGACCGTGCCCAGGAGGGGCCCCGATGAGGGGTCCTGAGGAGGGGATGGGGCTGGGGGATGGGCCTGAGTGAGAGGGGAGGCCAAGAGTGGCCCCACCTGGCCCTCTCTGAAGGAGGCCACCTCCTAAAAGGCCCAGAGAGAAGAGCCCCACTCTCAGAGGCCCCAATACCCCA:C,KCNQ1,VCV003235891,3235891,NM_000218.3(KCNQ1):c.1812_*143del (p.Gln604_Ter677delinsXaa),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2777033:G:T,KCNQ1,VCV003075923,3075923,NM_000218.3(KCNQ1):c.1732+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572976:G:T,KCNQ1,VCV002982293,2982293,NM_000218.3(KCNQ1):c.911G>T (p.Trp304Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2587564:CCTCAGACCGCATGGAGGTGCTATGCTG:C,KCNQ1,VCV002971269,2971269,NM_000218.3(KCNQ1):c.1129-4_1151del,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572980:G:C,KCNQ1,VCV002837284,2837284,NM_000218.3(KCNQ1):c.915G>C (p.Trp305Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572047:CACGTCG:C,KCNQ1,VCV002836375,2836375,NM_000218.3(KCNQ1):c.721_726del (p.Val241_Asp242del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2570735:G:GA,KCNQ1,VCV002828480,2828480,NM_000218.3(KCNQ1):c.587dup (p.Pro197fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2571383:GT:G,KCNQ1,VCV002814371,2814371,NM_000218.3(KCNQ1):c.666del (p.Phe222fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2585274:CC:AT,KCNQ1,VCV002811762,2811762,NM_000218.3(KCNQ1):c.1095_1096delinsAT (p.Asn365_Arg366delinsLysTrp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2585215:AT:A,KCNQ1,VCV002807267,2807267,NM_000218.3(KCNQ1):c.1038del (p.Gly348fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2777020:AT:A,KCNQ1,VCV002773484,2773484,NM_000218.3(KCNQ1):c.1721del (p.Ile574fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2588712:G:A,KCNQ1,VCV002773474,2773474,NM_000218.3(KCNQ1):c.1252-1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2776003:A:T,KCNQ1,VCV002770494,2770494,NM_000218.3(KCNQ1):c.1634A>T (p.Tyr545Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445486:T:G,KCNQ1,VCV002748943,2748943,NM_000218.3(KCNQ1):c.386+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2570677:G:C,KCNQ1,VCV002747611,2747611,NM_000218.3(KCNQ1):c.527G>C (p.Trp176Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2662041:GA:G,KCNQ1,VCV002725492,2725492,NM_000218.3(KCNQ1):c.1476del (p.Glu494fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2528019:G:C,KCNQ1,VCV002724418,2724418,NM_000218.3(KCNQ1):c.477+1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572854:AAC:A,KCNQ1,VCV002723186,2723186,NM_000218.3(KCNQ1):c.790_791del (p.Thr264fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572978:T:A,KCNQ1,VCV002719407,2719407,NM_000218.3(KCNQ1):c.913T>A (p.Trp305Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2768884:CGCAT:C,KCNQ1,VCV002708573,2708573,NM_000218.3(KCNQ1):c.1559_1562del (p.Met520fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2585300:TC:T,KCNQ1,VCV002692770,2692770,NM_000218.3(KCNQ1):c.1122del (p.Ile375fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2778039:T:C,KCNQ1,VCV002587406,2587406,NM_000218.3(KCNQ1):c.1794+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572976:G:A,KCNQ1,VCV002587403,2587403,NM_000218.3(KCNQ1):c.911G>A (p.Trp304Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445453:G:GC,KCNQ1,VCV002577445,2577445,NM_000218.3(KCNQ1):c.355_356insC (p.Gly119fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2587660:T:TG,KCNQ1,VCV002575074,2575074,NM_000218.3(KCNQ1):c.1219_1220insG (p.Ser407fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2585246:AGCAGAAGCAGAG:A,KCNQ1,VCV002575071,2575071,NM_000218.3(KCNQ1):c.1077_1088del (p.Gln359_Lys362del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2527927:G:C,KCNQ1,VCV002575070,2575070,NM_000218.3(KCNQ1):c.387-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2662053:CT:C,KCNQ1,VCV002575068,2575068,NM_000218.3(KCNQ1):c.1487del (p.Leu496fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2527938:GT:G,KCNQ1,VCV002575067,2575067,NM_000218.3(KCNQ1):c.398del (p.Val133fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2778038:G:A,KCNQ1,VCV002575066,2575066,NM_000218.3(KCNQ1):c.1794+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572850:T:A,KCNQ1,VCV002575065,2575065,NM_000218.3(KCNQ1):c.785T>A (p.Leu262Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583533:T:G,KCNQ1,VCV002575064,2575064,NM_000218.3(KCNQ1):c.1020T>G (p.Phe340Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572975:T:G,KCNQ1,VCV002575063,2575063,NM_000218.3(KCNQ1):c.910T>G (p.Trp304Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572852:AT:A,KCNQ1,VCV002574107,2574107,NM_000218.3(KCNQ1):c.788del (p.Ile263fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2585297:C:A,KCNQ1,VCV002574106,2574106,NM_000218.3(KCNQ1):c.1118C>A (p.Ser373Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572882:C:A,KCNQ1,VCV002574013,2574013,NM_000218.3(KCNQ1):c.817C>A (p.Leu273Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2768908:A:G,KCNQ1,VCV002574002,2574002,NM_000218.3(KCNQ1):c.1579A>G (p.Lys527Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572040:GATGCTAC:G,KCNQ1,VCV002567545,2567545,NM_000218.3(KCNQ1):c.713_719del (p.Met238fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2778024:G:T,KCNQ1,VCV002502702,2502702,NM_000218.3(KCNQ1):c.1781G>T (p.Arg594Leu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445344:GC:G,KCNQ1,VCV002502315,2502315,NM_000218.3(KCNQ1):c.248del (p.Pro83fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572862:T:A,KCNQ1,VCV002498480,2498480,NM_000218.3(KCNQ1):c.797T>A (p.Leu266Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583443:CA:C,KCNQ1,VCV002453279,2453279,NM_000218.3(KCNQ1):c.931del (p.Thr311fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2570685:G:C,KCNQ1,VCV002446426,2446426,NM_000218.3(KCNQ1):c.535G>C (p.Gly179Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583546:G:T,KCNQ1,VCV002136962,2136962,NM_000218.3(KCNQ1):c.1032+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572104:C:G,KCNQ1,VCV002136957,2136957,NM_000218.3(KCNQ1):c.775C>G (p.Arg259Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583460:G:C,KCNQ1,VCV002130527,2130527,NM_000218.3(KCNQ1):c.947G>C (p.Gly316Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2768911:A:AAT,KCNQ1,VCV002129901,2129901,NM_000218.3(KCNQ1):c.1583_1584insTA (p.Lys528fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583470:GC:TT,KCNQ1,VCV002129108,2129108,NM_000218.3(KCNQ1):c.957_958delinsTT (p.Pro320Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2570701:ACGTGGGCCTCTGGGGGCGGCTG:A,KCNQ1,VCV002102490,2102490,NM_000218.3(KCNQ1):c.554_575del (p.Val185fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445430:A:C,KCNQ1,VCV002035007,2035007,NM_000218.3(KCNQ1):c.332A>C (p.Tyr111Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2588739:C:CA,KCNQ1,VCV002028871,2028871,NM_000218.3(KCNQ1):c.1281dup (p.Asp428fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2776027:TG:T,KCNQ1,VCV002023188,2023188,NM_000218.3(KCNQ1):c.1660del (p.Val554fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2587681:A:T,KCNQ1,VCV002017757,2017757,NM_000218.3(KCNQ1):c.1240A>T (p.Lys414Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583546:G:C,KCNQ1,VCV002017498,2017498,NM_000218.3(KCNQ1):c.1032+1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2571346:C:CA,KCNQ1,VCV002004187,2004187,NM_000218.3(KCNQ1):c.626_627insA (p.Met210fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2768888:T:A,KCNQ1,VCV002000331,2000331,NM_000218.3(KCNQ1):c.1559T>A (p.Met520Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2587665:CA:C,KCNQ1,VCV001879152,1879152,NM_000218.3(KCNQ1):c.1225del (p.Ser409fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2571364:TG:T,KCNQ1,VCV001802109,1802109,NM_000218.3(KCNQ1):c.647del (p.Gly216fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445203:C:CT,KCNQ1,VCV001786030,1786030,NM_000218.3(KCNQ1):c.107dup (p.Ser37fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2776986:G:C,KCNQ1,VCV001778018,1778018,NM_000218.3(KCNQ1):c.1686G>C (p.Arg562Ser),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2585210:A:AGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCT,KCNQ1,VCV001771701,1771701,NM_000218.3(KCNQ1):c.1033-1_1117dup,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2588779:G:GTCCCCCATATCACGTGCGA,KCNQ1,VCV001769838,1769838,NM_000218.3(KCNQ1):c.1319_1337dup (p.Glu449fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583481:G:A,KCNQ1,VCV001723453,1723453,NM_000218.3(KCNQ1):c.968G>A (p.Trp323Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572886:T:A,KCNQ1,VCV001711271,1711271,NM_000218.3(KCNQ1):c.821T>A (p.Ile274Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2570663:C:CGTGGTCCGCCT,KCNQ1,VCV001709048,1709048,NM_000218.3(KCNQ1):c.514_524dup (p.Gly179fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2662026:G:T,KCNQ1,VCV001708065,1708065,NM_000218.3(KCNQ1):c.1459G>T (p.Glu487Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445485:G:T,KCNQ1,VCV001522663,1522663,NM_000218.3(KCNQ1):c.386+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2661959:A:G,KCNQ1,VCV001500718,1500718,NM_000218.3(KCNQ1):c.1394-2A>G,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2585309:T:A,KCNQ1,VCV001500707,1500707,NM_000218.3(KCNQ1):c.1128+2T>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2571324:G:A,KCNQ1,VCV001493047,1493047,NM_000218.3(KCNQ1):c.605-1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583531:T:C,KCNQ1,VCV001488375,1488375,NM_000218.3(KCNQ1):c.1018T>C (p.Phe340Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445400:T:A,KCNQ1,VCV001457098,1457098,NM_000218.3(KCNQ1):c.302T>A (p.Leu101Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2587588:G:GC,KCNQ1,VCV001454915,1454915,NM_000218.3(KCNQ1):c.1148dup (p.Ala384fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572899:C:CT,KCNQ1,VCV001454509,1454509,NM_000218.3(KCNQ1):c.837dup (p.Val280fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445457:GGAAATGCTTC:G,KCNQ1,VCV001454382,1454382,NM_000218.3(KCNQ1):c.361_370del (p.Lys121fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572099:T:TCCACC,KCNQ1,VCV001452627,1452627,NM_000218.3(KCNQ1):c.771_775dup (p.Arg259fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572975:T:TGGTG,KCNQ1,VCV001451451,1451451,NM_000218.3(KCNQ1):c.913_916dup (p.Gly306fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583486:G:T,KCNQ1,VCV001449449,1449449,NM_000218.3(KCNQ1):c.973G>T (p.Gly325Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2587647:CCACACTCTGCTGT:C,KCNQ1,VCV001445000,1445000,NM_000218.3(KCNQ1):c.1210_1222del (p.Thr404fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583456:T:A,KCNQ1,VCV001439097,1439097,NM_000218.3(KCNQ1):c.943T>A (p.Tyr315Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2571394:C:G,KCNQ1,VCV001438413,1438413,NM_000218.3(KCNQ1):c.674C>G (p.Ser225Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572096:TCATC:T,KCNQ1,VCV001437397,1437397,NM_000218.3(KCNQ1):c.770_773del (p.Ile257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2588814:GC:G,KCNQ1,VCV001426804,1426804,NM_000218.3(KCNQ1):c.1354del (p.Arg452fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583446:C:CACCATCGG,KCNQ1,VCV001416082,1416082,NM_000218.3(KCNQ1):c.934_941dup (p.Tyr315fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572029:C:T,KCNQ1,VCV001414164,1414164,NM_000218.3(KCNQ1):c.700C>T (p.Gln234Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583472:C:T,KCNQ1,VCV001411474,1411474,NM_000218.3(KCNQ1):c.959C>T (p.Pro320Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572987:G:A,KCNQ1,VCV001384067,1384067,NM_000218.3(KCNQ1):c.921+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2528020:T:C,KCNQ1,VCV001350731,1350731,NM_000218.3(KCNQ1):c.477+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2570625:CAGG:C,KCNQ1,VCV001343361,1343361,NM_000218.2(KCNQ1):c.478_480del,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2588712:G:C,KCNQ1,VCV001342782,1342782,NM_000218.3(KCNQ1):c.1252-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2571323:A:G,KCNQ1,VCV001342708,1342708,NM_000218.3(KCNQ1):c.605-2A>G,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2768921:T:A,KCNQ1,VCV001331817,1331817,NM_000218.3(KCNQ1):c.1590+2T>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572976:G:C,KCNQ1,VCV001212402,1212402,NM_000218.3(KCNQ1):c.911G>C (p.Trp304Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2585276:G:T,KCNQ1,VCV001185948,1185948,NM_000218.3(KCNQ1):c.1097G>T (p.Arg366Leu),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2587690:G:GT,KCNQ1,VCV001179766,1179766,NM_000218.3(KCNQ1):c.1250dup (p.Val418fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2778034:CAA:C,KCNQ1,VCV001171410,1171410,NM_000218.3(KCNQ1):c.1792_1793del (p.Lys598fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2587622:TC:T,KCNQ1,VCV001076090,1076090,NM_000218.3(KCNQ1):c.1182del (p.Tyr395fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445482:CG:C,KCNQ1,VCV001075209,1075209,NM_000218.3(KCNQ1):c.385del (p.Val129fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445457:G:A,KCNQ1,VCV001074347,1074347,NM_000218.3(KCNQ1):c.359G>A (p.Trp120Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445251:CGCGCCCATCGCGCCCG:C,KCNQ1,VCV001072801,1072801,NM_000218.3(KCNQ1):c.160_175del (p.Ile54fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2777030:C:G,KCNQ1,VCV001069232,1069232,NM_000218.3(KCNQ1):c.1730C>G (p.Ser577Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2588711:A:C,KCNQ1,VCV001067022,1067022,NM_000218.3(KCNQ1):c.1252-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2661960:G:C,KCNQ1,VCV001066272,1066272,NM_000218.3(KCNQ1):c.1394-1G>C,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583463:A:C,KCNQ1,VCV001056776,1056776,NM_000218.3(KCNQ1):c.950A>C (p.Asp317Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2585291:C:A,KCNQ1,VCV001038475,1038475,NM_000218.3(KCNQ1):c.1112C>A (p.Ala371Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2778003:C:G,KCNQ1,VCV001037124,1037124,NM_000218.3(KCNQ1):c.1760C>G (p.Thr587Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2768888:T:C,KCNQ1,VCV001018501,1018501,NM_000218.3(KCNQ1):c.1559T>C (p.Met520Thr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572081:T:A,KCNQ1,VCV001004846,1004846,NM_000218.3(KCNQ1):c.752T>A (p.Leu251Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2587654:CTG:C,KCNQ1,VCV000992394,992394,NM_000218.3(KCNQ1):c.1214_1215del (p.Leu405fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2776977:T:C,KCNQ1,VCV000983505,983505,NM_000218.3(KCNQ1):c.1686-9T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2588738:AC:A,KCNQ1,VCV000983047,983047,NM_000218.3(KCNQ1):c.1278del (p.Asp426fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2570701:AC:A,KCNQ1,VCV000983022,983022,NM_000218.3(KCNQ1):c.552del (p.Lys183_Tyr184insTer),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2699443:GCACTGAGGAGCCGCCGGGAGAGTGCCGCGCTGAGGAGCCCCCGGGGAGAGTGCCGCGCTGAGGAGCCCCCAGGAGAGTGCCGCGCTGAGGAGGCCCAGGGAGGACCGCGCGGAGGAGAACCATGCTGAGGAGCCCCCGGGGAGAACAGAACCGCGGCGAGAGGCCCCCGGAGAGAACCGCGCCGAAGAACCCCCGGGGACAACCGCGCCGAAGAACCCCCGGGGAGAACCGCGCCGAAAAGCCCCGGGTGCCCCGAGGAGAACGGCGCCGAGGAGTCCCCGGGGAGAACTGCGCCGAGGAGCCCCCAGAAGAGCGCCGCGCTGAGGAGCCCCGAGGAGAACCGCGCCGAGGGGCGCGCCGGGGAGAACCACGATGACTGACGCACCGAGGAGGACCGCGCTGAGGGGCGCACCGGGAGAATCGTGCTGAGGAGCCCCGGGGAGGACCACGCTGAGAGGCACCCCGGCAGAATCGCGCTGAGGGGCGCCCTGGCAGGATCTTGCTGAGGAGCTCCCTGGAGGTCCGTGCTGAGGCGACGCGGCGACCGTTCTGCCTGGAGACTGCGGCAGCGCTCCGACTGCCCCCGCCGCTGCCGACGTGGCGACCGCCCCCCACCTGCTGATTGGGCGGCAGCAGGGGAAGGCTTGCGGCGGGCTGCTGCACGGATTGGCTGGGTGCGGAAAGTGATGTGCCGTGTCCTGTCATTGGCCGAAAGAGTCTCGTTTTGATGCCACCCGGGCTCAGATTGGCCCAGCGGGTCCAGCGCCGCATGAGGCACTGGCTGGGTGTGAGGTGGCGCGAGCCGCCGCCCTCCCTGCCCCCACCCGTCGTCCCTGAGCACCACCGGGGGCCGGGGCCAGCGCCAGCCTCAGCGTTGGCATCGCCGGGGTGAGCTGGAGACACGGGCCAGTTCTCTGCGTGATGTGTTCACCACCCCGGGGTGACCGCGTGAGGACAGCGGCCGCACCCCGACACTGCTGTGGGCCCTCGGTGTGGAGGCCTGTGGGCGTCCAGGCCACGCCCGAGACCAGCCCCTCCGCCGGCGCCGCTGCAGCGACCCTCGAACCCGGGCAAGGTCTCCACCGCCGTGGCACCGGGTGCGGGAGGCGTTTTCCCCCCTCCCAGCGGGTCCATGCAGGGGATCGGGATGTTCTGAAGCCCCCACTGCTGTGCCTGGAACACCCGTGTCTGCCGCTCACCCCTGAGGACTTGGGACCTCAGGGGGTGAGTGGCAGGGGTGGCCGGGACATGCCAGGCCACCCACCTGGCAAAGGGCAGCGCCGAGGGCGCCCCGCGCCTGCCAGCGCCCGGCCGGGCCCGCCCTGCCCACCTCCCATCCCCCATCCGGGCGTGACACTTGACCGCGTCTGCCGGCCCCTCC:G,KCNQ1,VCV000977320,977320,NM_000218.3(KCNQ1):c.1514+37364_1514+38744del,Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583544:CGGTAGGTGCCCCGTGGGTGCGTTTTCCCTGGCTCCTTGGACAGCTGGGGTCCTGGGGTGGCTGCACGCCCCTCCCTGTGAGCAGACCCACTTACGTTCAGAACCAAGAGGGTGCTTCCCTTCTAGAAGGTGCTATACTCCAGAGCCCCACCTGCCCTCCCTGGGGCCCTGGATGCAGACTTCCCGTTTGCAGTCCCCACTGGGGTCCTTGCAGGCAGTGTGGGAGGCAGCCTGGAGTGGCTGTGCATGGGCGCAGTGTGGGGCAGGCCTGCTCACTCAGCCCTGGGTGGGTGGGCAATGCTGCTACCACGCCCCATGGAGGCAGAATCTTGTGCCTGGAGAGGGCACTTCCACGCTGTGGCTGGGGGGGTTTTGTTCCATGTCCTTTCCAGAAACCACAGATTGTAAGGTGATGTGTCTAGTTCACAATGCCTGTATGTGGGTGTGTGTGTGTGTGTTATGTGCGTATGTGCATAATATGTGTTTGTGTTGTGTGTGTATAATTTTATGTTACCTGTATACTATGGGTATGTGTATATGTATCACATGGGTGTGTATGTACTGTATGTGTGCGTGCATACTGTGTATACATATTGTATGTGCATATGTTGTATTTAGTATGTGTGCTGTGTTGTGTGCACATGTATGCATTATACATGTATATCAGTATGTTTGCATATGTGTATTTATGTATCTGTGTCACAGGTATGTATCCTATACATCTATGTGCGTATATGTGTGTGCACATGACATGTAGACATGTGTTAGTATGTGCTTGTGTTAGTGTTTGTGTGTTAGTGTGGGTTAGTGTATGTTTTAGTGTATGTTAGTGTGTTTGTGTGTTAGTGTGTGGGTTTGTGTTTGTGTTTCTGTGTTAGTGTGTGTGTTAGTGTGCGTTAGTTTGTGTTTGTGTGTGTATGTTAGTGTATGTTAGTGTTAGTGTGTGTTAGTATGTGGGTTAGTGTGTGTGTTTGTGTGTTAGTGTGTGTGTTAGTATGTGTTTGTGTTAGTGTGTATTTGTGTGTGTTAGTGTTTGTGTGTGTTTGTGGGTTAGTGTGTGTTAGTGTGGGTTACTGTGTGTTAGTGTTTGTGTGTTAGTGTGTTTTTGTGTGTGTTAGTGTGTGGGTTAGTGTTTGTGTGTGTGTCAGTGTGTGTGTGTTAGTGTGCATATCTATTGTGTGTGTGTGTGCATCACACATGCACGTGCACCACGTGATCTCCTCTGTAGACACGGAGTTCCCTAGCTTCAGGGTGGGTCCTTTGCATCCCATCAACCGTCCTTGGGCGAGGCAGCAGCAGGGTCCTCCTCAGCTGAGGACTGCCTTCTCACTTGCGACCCCAATCCCAGTGCCCAGTATGACCCCTTCCTGGGCACATACAGATGGACCAGCCCACCTGGCCCCCAGAATGGTCCCTGGGAATGGGTTAGAGCGGCTGCAGCCCTGCCCCATGGGACTGGGCCCCTTGCTGGATAAGACCTGGGGTATAAGTTCTGCCCCCCATGCTGGCCCAGGACAGGCAGGCTGGGCCCGAGGTGGGACTTGGGGGGGCTTCCAGCACTGACCATACCTGGCCTTCCCACAACGGTGACCGGTAACCACGTCCTGAGGCTGCACCCAGCTGGCAGTGGCCTGTGTGGACGGGAGCCTCCTGTCCATTCCTTCCCAGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCTCACTCATTCAGGTGCGGTGCCTGCAAGGCCCTGGTCACTGTCATTTTGGTCACTGTTATTGTTGCATCCAGCCCTCACGGCCACCTGTCAGAACCATCATTGGCCCCTGCATCAGCTTGGCTGGCCTGTGGGGCATACTCTGCTTGTGGAAGCCTTGGCTGCTGTGGTGATGGGGTGAGCACGGGGCATTGGAGCCTGTCTTCCTCCAAAGCTGCTCCCATCAAGGGCCATGCCCTGTGGGCTGGAGAGGAGGCACGGCCGTGGCCATGCCAGGAGTGGACGTGGTTGGCTCTGAGGCTCCCTTGTGCTCCCATTCTCCCTCCCACTGCACAACAACCTGAGGGCTGAGTCTGGGAGTGGGGTGGCCAGGTGATTGTCCCCAAGGGAGGTAGGACCCAGCTGTGCAGTTGGTGCCTTCTGGAGGGCCTGGCATCCCTCAGGGCTCGGGAGGCCCTGGTGCCTGGAGGTGAGGACTGGCGATGGATGGCATGGGCCTCCCTCTGGGCTCACAAGGCCAGTGGGCTGGGAAAGGCAGAGCCCTGGAGCAACAGGGGCAGGAAGGTTCTGGAGGCAGGTGGGGAGGCAGGCAGTACCAAGCTCTGGGATGCTGGGCTCTGGCTCTGTCACTCCAGGCTCTCCAGGACCCACCAGAGAATGGGACTGCTCTGTTAACGTAAGCAAGGACTTGGCACAGGAGTCACTTGAGAATTGCGTCCCTGTGGGTCTCTCTTGTTGGCCACTGCAGGGCCAGGGCTGCCCTGAGGAACAGCCGCTGAGGTGCCCAGAGGGTGGGCGTTGCCGGGTTGAATGACAAGTGCCCACTGGGGATAGGGCCTCCGCCCAGTGCAGTGGCTGGGAGCACAGTGTCAGTTCCTCTGGGCACACTGGGCCTGATGTCCCCCAGGAAGGCCCAGGACCTGGGCAGCCCCCGCTGGCTGGCGTCCCCCCTGCAGTCCTCGTGAGCTCGCTGCCCCAGGCAAGGCCCAGGCTGTCAGGGGCCAGTCGCAGTCCTCCTGCACTCCTGGCTCAGCCATCGGGGGGGCTGTGTGCTCCCACCCTTAGCCTGGTTTTATGGCTTCACAGTTTCTCCTTCCTGGGAGACCATAAATCAGGCCCGTAAACCCGCCTTGGTCCCAGCATGAGCATGCTGGCCGCCCACGCCTGGCAGGGGACCACATTGGATTCCTGGTCCCACTCCCTGGGAACCACAGGTCCTTTGAAAGGGGTTCCCTCGGAAGCTGCACACACTGTGGGAGGACTGGAGTAGGGGCCCCAGGTGGCAGGTGTGCACAGGAGCAGGGCAGGGGTCATGGGGTTTGCCAGGGTTGGGGGACCACGTGGAGTGCTCAGCCTGTGTGTGTAACACTCGGGCCTTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCA:C,KCNQ1,VCV000977170,977170,NM_000218.3(KCNQ1):c.1032+1_1129-1del,Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2587646:GC:G,KCNQ1,VCV000966649,966649,NM_000218.3(KCNQ1):c.1207del (p.His403fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583477:A:C,KCNQ1,VCV000960695,960695,NM_000218.3(KCNQ1):c.964A>C (p.Thr322Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2777033:G:A,KCNQ1,VCV000956049,956049,NM_000218.3(KCNQ1):c.1732+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583547:T:C,KCNQ1,VCV000939724,939724,NM_000218.3(KCNQ1):c.1032+2T>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2588718:GAAAA:G,KCNQ1,VCV000930315,930315,NM_000218.3(KCNQ1):c.1262_1265del (p.Lys421fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2662006:T:TGAGAACCAACAGCTTCGCC,KCNQ1,VCV000926196,926196,NM_000218.3(KCNQ1):c.1443_1461dup (p.Asp488fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2588790:CA:C,KCNQ1,VCV000925351,925351,NM_000218.3(KCNQ1):c.1330del (p.Thr444fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2588815:CG:C,KCNQ1,VCV000922607,922607,NM_000218.3(KCNQ1):c.1356del (p.Leu453fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2585222:GCTCGGGGTTTG:CA,KCNQ1,VCV000919956,919956,NM_000218.3(KCNQ1):c.1043_1054delinsCA (p.Gly348fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572105:G:C,KCNQ1,VCV000869436,869436,NM_000218.3(KCNQ1):c.776G>C (p.Arg259Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2585288:C:A,KCNQ1,VCV000869435,869435,NM_000218.3(KCNQ1):c.1109C>A (p.Ala370Glu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2570626:AG:A,KCNQ1,VCV000869434,869434,NM_000218.2(KCNQ1):c.478_478del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2768869:ATTAAGGTCAT:A,KCNQ1,VCV000869433,869433,NM_000218.3(KCNQ1):c.1542_1551del (p.Lys515fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572874:TCCTGGG:T,KCNQ1,VCV000861314,861314,NM_000218.3(KCNQ1):c.813_818del (p.Gly272_Leu273del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572072:G:A,KCNQ1,VCV000855976,855976,NM_000218.3(KCNQ1):c.743G>A (p.Trp248Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2587671:CA:C,KCNQ1,VCV000844409,844409,NM_000218.3(KCNQ1):c.1233del (p.Lys411fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572107:C:T,KCNQ1,VCV000842276,842276,NM_000218.3(KCNQ1):c.778C>T (p.Gln260Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2570712:TGG:T,KCNQ1,VCV000817323,817323,NM_000218.3(KCNQ1):c.566_567del (p.Gly189fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2570662:AC:A,KCNQ1,VCV000817016,817016,NM_000218.3(KCNQ1):c.513del (p.Glu170_Tyr171insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2587693:G:A,KCNQ1,VCV000812675,812675,NM_000218.3(KCNQ1):c.1251+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445471:T:A,KCNQ1,VCV000684802,684802,NM_000218.3(KCNQ1):c.373T>A (p.Tyr125Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2528008:T:C,KCNQ1,VCV000684787,684787,NM_000218.3(KCNQ1):c.467T>C (p.Leu156Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2776056:T:G,KCNQ1,VCV000667007,667007,NM_000218.3(KCNQ1):c.1685+2T>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572055:C:A,KCNQ1,VCV000665471,665471,NM_000218.3(KCNQ1):c.726C>A (p.Asp242Glu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583486:G:C,KCNQ1,VCV000660595,660595,NM_000218.3(KCNQ1):c.973G>C (p.Gly325Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2571404:G:A,KCNQ1,VCV000651458,651458,NM_000218.3(KCNQ1):c.683+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583550:G:T,KCNQ1,VCV000641597,641597,NM_000218.3(KCNQ1):c.1032+5G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2585305:C:T,KCNQ1,VCV000620198,620198,NM_000218.3(KCNQ1):c.1126C>T (p.Gln376Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572846:G:T,KCNQ1,VCV000620103,620103,NM_000218.3(KCNQ1):c.781G>T (p.Glu261Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2768851:GA:G,KCNQ1,VCV000587644,587644,NM_000218.3(KCNQ1):c.1524del (p.Glu508fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583433:A:G,KCNQ1,VCV000582668,582668,NM_000218.3(KCNQ1):c.922-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583442:TCAC:T,KCNQ1,VCV000581345,581345,NM_000218.3(KCNQ1):c.932CCA[1] (p.Thr312del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2587579:A:T,KCNQ1,VCV000581004,581004,NM_000218.3(KCNQ1):c.1138A>T (p.Arg380Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2768841:CAG:C,KCNQ1,VCV000576205,576205,NM_000218.3(KCNQ1):c.1515-2_1515-1del,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2571324:G:C,KCNQ1,VCV000573523,573523,NM_000218.3(KCNQ1):c.605-1G>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572061:GGGAGGCACCT:G,KCNQ1,VCV000570590,570590,NM_000218.3(KCNQ1):c.739_748del (p.Thr247fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2777002:G:C,KCNQ1,VCV000570319,570319,NM_000218.3(KCNQ1):c.1702G>C (p.Gly568Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583545:G:T,KCNQ1,VCV000560649,560649,NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572850:T:C,KCNQ1,VCV000560359,560359,NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2588717:AG:A,KCNQ1,VCV000526930,526930,NM_000218.3(KCNQ1):c.1257del (p.Lys422fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445192:A:T,KCNQ1,VCV000523769,523769,NM_000218.3(KCNQ1):c.94A>T (p.Lys32Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583447:A:T,KCNQ1,VCV000522585,522585,NM_000218.3(KCNQ1):c.934A>T (p.Thr312Ser),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572059:C:T,KCNQ1,VCV000519369,519369,NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2570659:AG:A,KCNQ1,VCV000519357,519357,NM_000218.3(KCNQ1):c.510del (p.Glu170fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2777034:TG:T,KCNQ1,VCV000517664,517664,NM_000218.3(KCNQ1):c.1732+5del,Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2661990:AGCAT:A,KCNQ1,VCV000496690,496690,NM_000218.3(KCNQ1):c.1426_1429del (p.Met476fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445473:C:A,KCNQ1,VCV000489011,489011,NM_000218.3(KCNQ1):c.375C>A (p.Tyr125Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572899:C:G,KCNQ1,VCV000456869,456869,NM_000218.3(KCNQ1):c.834C>G (p.Tyr278Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583456:T:C,KCNQ1,VCV000449302,449302,NM_000218.3(KCNQ1):c.943T>C (p.Tyr315His),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2571373:A:AG,KCNQ1,VCV000449283,449283,NM_000218.3(KCNQ1):c.657dup (p.Gln220fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2775977:C:CGATGT,KCNQ1,VCV000448975,448975,NM_000218.3(KCNQ1):c.1610_1614dup (p.Arg539fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572060:AGG:A,KCNQ1,VCV000438610,438610,NM_000218.3(KCNQ1):c.733_734del (p.Gly245fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2570706:G:T,KCNQ1,VCV000432149,432149,NM_000218.3(KCNQ1):c.556G>T (p.Gly186Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2588785:CA:C,KCNQ1,VCV000431370,431370,NM_000218.3(KCNQ1):c.1325del (p.His442fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2768860:CG:C,KCNQ1,VCV000430941,430941,NM_000218.3(KCNQ1):c.1534del (p.Ala512fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2528004:ACT:A,KCNQ1,VCV000421737,421737,NM_000218.3(KCNQ1):c.468_469del (p.Phe157fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445231:C:CCGGCGGG,KCNQ1,VCV000420658,420658,NM_000218.3(KCNQ1):c.139_145dup (p.Ala49fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2571340:TG:T,KCNQ1,VCV000420529,420529,NM_000218.3(KCNQ1):c.622del (p.Ala208fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2445478:T:TCG,KCNQ1,VCV000419579,419579,NM_000218.3(KCNQ1):c.382_383dup (p.Val129fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2587616:G:A,KCNQ1,VCV000405268,405268,NM_000218.3(KCNQ1):c.1175G>A (p.Trp392Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2778025:AG:A,KCNQ1,VCV000405264,405264,NM_000218.3(KCNQ1):c.1783del (p.Arg594_Val595insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572912:G:C,KCNQ1,VCV000405263,405263,NM_000218.3(KCNQ1):c.847G>C (p.Ala283Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572068:ACCTGGAGGCT:A,KCNQ1,VCV000405262,405262,NM_000218.3(KCNQ1):c.745_754del (p.Arg249fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2585225:C:A,KCNQ1,VCV000405261,405261,NM_000218.3(KCNQ1):c.1046C>A (p.Ser349Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572050:G:T,KCNQ1,VCV000405255,405255,NM_000218.3(KCNQ1):c.721G>T (p.Val241Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572883:T:C,KCNQ1,VCV000405254,405254,NM_000218.3(KCNQ1):c.818T>C (p.Leu273Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572846:GA:TT,KCNQ1,VCV000405253,405253,NM_000218.3(KCNQ1):c.781_782delinsTT (p.Glu261Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,MNV_or_substitution,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2572908:C:A,KCNQ1,VCV000379504,379504,NM_000218.3(KCNQ1):c.843C>A (p.Tyr281Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-11:2583434:G:A,KCNQ1,VCV000372568,372568,NM_000218.3(KCNQ1):c.922-1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958401:CCGGGGCGCCCGCGCCGCCCGCG:C,KCNH2,VCV004804554,4804554,NM_000238.4(KCNH2):c.552_573del (p.Ala185fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150957304:TCA:T,KCNH2,VCV004763986,4763986,NM_000238.4(KCNH2):c.1113_1114del (p.Lys373fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974776:TG:T,KCNH2,VCV004758983,4758983,NM_000238.4(KCNH2):c.241del (p.Gln81fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952789:CA:C,KCNH2,VCV004758579,4758579,NM_000238.4(KCNH2):c.1192del (p.Trp398fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947810:C:CCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCT,KCNH2,VCV004757905,4757905,NM_000238.4(KCNH2):c.2699_2760dup (p.Gly921fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974714:CT:C,KCNH2,VCV004733133,4733133,NM_000238.4(KCNH2):c.303del (p.Asp102fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948451:C:CGT,KCNH2,VCV004728357,4728357,NM_000238.4(KCNH2):c.2683_2684dup (p.Asp896fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974927:TG:T,KCNH2,VCV004727073,4727073,NM_000238.4(KCNH2):c.90del (p.Ile31fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950996:GGGGATCT:G,KCNH2,VCV004726900,4726900,NM_000238.4(KCNH2):c.2063_2069del (p.Gln688fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951619:G:A,KCNH2,VCV004724072,4724072,NM_000238.4(KCNH2):c.1774C>T (p.Gln592Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947659:TC:T,KCNH2,VCV004722731,4722731,NM_000238.4(KCNH2):c.2911del (p.Glu971fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948935:AG:A,KCNH2,VCV004721201,4721201,NM_000238.4(KCNH2):c.2512del (p.Leu838fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958060:G:GGT,KCNH2,VCV004720344,4720344,NM_000238.4(KCNH2):c.913_914dup (p.Gly306fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950985:C:CT,KCNH2,VCV004720342,4720342,NM_000238.4(KCNH2):c.2080_2081insA (p.Arg694fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948873:TG:T,KCNH2,VCV004719590,4719590,NM_000238.4(KCNH2):c.2574del (p.Thr859fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951653:GT:G,KCNH2,VCV004715748,4715748,NM_000238.4(KCNH2):c.1739del (p.Asp580fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950398:CACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCA:C,KCNH2,VCV004715444,4715444,NM_000238.4(KCNH2):c.2146-50_2167del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947816:T:TC,KCNH2,VCV004714508,4714508,NM_000238.4(KCNH2):c.2754_2755insG (p.Ser919fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947516:T:C,KCNH2,VCV004710895,4710895,NM_000238.4(KCNH2):c.2966-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947452:G:A,KCNH2,VCV004710749,4710749,NM_000238.4(KCNH2):c.3028C>T (p.Gln1010Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951022:C:A,KCNH2,VCV004709557,4709557,NM_000238.4(KCNH2):c.2044G>T (p.Glu682Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950393:G:A,KCNH2,VCV004709556,4709556,NM_000238.4(KCNH2):c.2173C>T (p.Gln725Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974868:CTCGCAGAAGCCGTCG:C,KCNH2,VCV004686179,4686179,NM_000238.4(KCNH2):c.135_149del (p.Asn45_Glu50delinsLys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974766:C:CTGCGCGATCTGCGCGGCAGCGCGGCGCTGCG,KCNH2,VCV004681926,4681926,NM_000238.4(KCNH2):c.221_251dup (p.Gln84fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947386:GACCC:CCG,KCNH2,VCV004614356,4614356,NM_000238.4(KCNH2):c.3090_3094delinsCGG (p.Arg1032fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958125:ACGAGGCGCGGCGCACG:A,KCNH2,VCV004614351,4614351,NM_000238.4(KCNH2):c.834_849del (p.Val279fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150977911:CAT:C,KCNH2,VCV004614346,4614346,NM_000238.4(KCNH2):c.1_2del (p.Met1fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950421:CTGGGGGCAGGG:C,KCNH2,VCV004614344,4614344,NM_000238.4(KCNH2):c.2146-12_2146-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958115:T:TCGTCGGC,KCNH2,VCV004529668,4529668,NM_000238.4(KCNH2):c.853_859dup (p.Asp287fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947398:A:AGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATC,KCNH2,VCV004281328,4281328,NM_000238.4(KCNH2):c.3041_3081dup (p.Ser1028fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951686:G:T,KCNH2,VCV004280330,4280330,NM_000238.4(KCNH2):c.1707C>A (p.Tyr569Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952518:G:GCGGC,KCNH2,VCV004090314,4090314,NM_000238.4(KCNH2):c.1460_1463dup (p.Ile489fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951522:C:A,KCNH2,VCV004074744,4074744,NM_000238.4(KCNH2):c.1871G>T (p.Ser624Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974883:G:GGAC,KCNH2,VCV004074721,4074721,NM_000238.4(KCNH2):c.134_135insGTC (p.Asn45delinsLysSer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150949002:CA:C,KCNH2,VCV004071954,4071954,NM_000238.4(KCNH2):c.2445del (p.Gly816fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948455:CGCCT:C,KCNH2,VCV003911914,3911914,NM_000238.4(KCNH2):c.2677_2680del (p.Arg893fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950971:C:A,KCNH2,VCV003911046,3911046,NM_000238.4(KCNH2):c.2095G>T (p.Glu699Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951627:A:G,KCNH2,VCV003900638,3900638,NM_000238.4(KCNH2):c.1766T>C (p.Leu589Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950199:G:C,KCNH2,VCV003895127,3895127,NM_000238.4(KCNH2):c.2367C>G (p.Ile789Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948472:CTTGCGCTTGCG:C,KCNH2,VCV003895051,3895051,NM_000238.4(KCNH2):c.2653_2663del (p.Arg885fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150977847:C:T,KCNH2,VCV003895040,3895040,NM_000238.4(KCNH2):c.67G>A (p.Glu23Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952746:C:T,KCNH2,VCV003894984,3894984,NM_000238.4(KCNH2):c.1236G>A (p.Trp412Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948465:AG:A,KCNH2,VCV003894466,3894466,NM_000238.4(KCNH2):c.2670del (p.Phe891fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947792:ACGGCCCCCCCGGC:A,KCNH2,VCV003893973,3893973,NM_000238.4(KCNH2):c.2766_2778del (p.Pro923fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958239:C:CGG,KCNH2,VCV003862757,3862757,NM_000238.4(KCNH2):c.734_735dup (p.Gly246fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947802:C:CG,KCNH2,VCV003775096,3775096,NM_000238.4(KCNH2):c.2768dup (p.Pro926fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947833:GC:G,KCNH2,VCV003773804,3773804,NM_000238.4(KCNH2):c.2737del (p.Ala913fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947606:CT:C,KCNH2,VCV003764662,3764662,NM_000238.4(KCNH2):c.2964del (p.Gly989fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150977853:T:TG,KCNH2,VCV003728256,3728256,NM_000238.4(KCNH2):c.60dup (p.Lys21fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974851:CG:C,KCNH2,VCV003724054,3724054,NM_000238.4(KCNH2):c.166del (p.Arg56fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948466:G:GGACAACTT,KCNH2,VCV003721525,3721525,NM_000238.4(KCNH2):c.2662_2669dup (p.Phe891fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974776:T:TGCGCGGCA,KCNH2,VCV003720793,3720793,NM_000238.4(KCNH2):c.234_241dup (p.Gln81fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951583:C:A,KCNH2,VCV003720791,3720791,NM_000238.4(KCNH2):c.1810G>T (p.Gly604Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950211:GC:G,KCNH2,VCV003720787,3720787,NM_000238.4(KCNH2):c.2354del (p.Gly785fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947804:GCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGC:G,KCNH2,VCV003712259,3712259,NM_000238.4(KCNH2):c.2732_2766del (p.Gly911fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952480:T:G,KCNH2,VCV003657287,3657287,NM_000238.4(KCNH2):c.1502A>C (p.Asp501Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974794:TGC:T,KCNH2,VCV003655448,3655448,NM_000238.4(KCNH2):c.222_223del (p.Gln75fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951069:AG:A,KCNH2,VCV003651645,3651645,NM_000238.4(KCNH2):c.1996del (p.Leu666fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958119:CG:C,KCNH2,VCV003651113,3651113,NM_000238.4(KCNH2):c.855del (p.Asp286fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950175:GGCCACGACGACGTC:G,KCNH2,VCV003602222,3602222,NM_000238.4(KCNH2):c.2377_2390del (p.Asp793fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974842:A:G,KCNH2,VCV003544416,3544416,NM_000238.4(KCNH2):c.176T>C (p.Val59Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951076:G:A,KCNH2,VCV003386898,3386898,NM_000238.4(KCNH2):c.1990C>T (p.Gln664Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974852:G:A,KCNH2,VCV003383250,3383250,NM_000238.4(KCNH2):c.166C>T (p.Arg56Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951102:A:T,KCNH2,VCV003382540,3382540,NM_000238.4(KCNH2):c.1964T>A (p.Ile655Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951462:A:AC,KCNH2,VCV003376960,3376960,NM_000238.4(KCNH2):c.1930dup (p.Val644fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947807:GGCCCCGGCTACTCGGCCCT:G,KCNH2,VCV003376939,3376939,NM_000238.4(KCNH2):c.2745_2763del (p.Pro917fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951801:C:G,KCNH2,VCV003370336,3370336,NM_000238.4(KCNH2):c.1592G>C (p.Arg531Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974774:T:TCTGCGCGG,KCNH2,VCV003341931,3341931,NM_000238.4(KCNH2):c.236_243dup (p.Ile82fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952717:G:T,KCNH2,VCV003338328,3338328,NM_000238.4(KCNH2):c.1265C>A (p.Ala422Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947400:AG:A,KCNH2,VCV003255227,3255227,NM_000238.4(KCNH2):c.3079del (p.Leu1027fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951576:GAGGGGCCGCCCAG:ATACATACTT,KCNH2,VCV003254651,3254651,NM_000238.4(KCNH2):c.1804_1817delinsAAGTATGTAT (p.Leu602fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958109:TCGATGTCGTCGGCCGA:T,KCNH2,VCV003254536,3254536,NM_000238.4(KCNH2):c.850_865del (p.Ser284fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950944:TGTAGG:T,KCNH2,VCV003252026,3252026,NM_000238.4(KCNH2):c.2117_2121del (p.Ser706fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150977842:G:GGC,KCNH2,VCV003236854,3236854,NM_000238.4(KCNH2):c.71_72insGC (p.Gln25fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947367:ACGTCGCCC:A,KCNH2,VCV003230731,3230731,NM_000238.4(KCNH2):c.3105_3112del (p.Asp1037fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974721:G:C,KCNH2,VCV003230730,3230730,NM_000238.4(KCNH2):c.297C>G (p.Tyr99Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950843:TGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGG:T,KCNH2,VCV003230725,3230725,NM_000238.4(KCNH2):c.2013_2145+77del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952852:A:AC,KCNH2,VCV003076042,3076042,NC_000007.14:g.150952854dup,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952817:TG:T,KCNH2,VCV003076025,3076025,NM_000238.4(KCNH2):c.1164del (p.Glu387_Tyr388insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947857:A:ACCTC,KCNH2,VCV003075307,3075307,NM_000238.4(KCNH2):c.2710_2713dup (p.Val905fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950920:CCG:C,KCNH2,VCV003074111,3074111,NM_000238.4(KCNH2):c.2144_2145del (p.Ala715fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951479:CT:C,KCNH2,VCV003068475,3068475,NM_000238.4(KCNH2):c.1913del (p.Lys638fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951530:G:T,KCNH2,VCV003066169,3066169,NM_000238.4(KCNH2):c.1863C>A (p.Ser621Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951730:A:G,KCNH2,VCV003064233,3064233,NM_000238.4(KCNH2):c.1663T>C (p.Cys555Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958303:CCCTG:C,KCNH2,VCV002918473,2918473,NM_000238.4(KCNH2):c.668_671del (p.Ala223fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150946999:G:A,KCNH2,VCV002906537,2906537,NM_000238.4(KCNH2):c.3208C>T (p.Gln1070Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974750:C:A,KCNH2,VCV002880265,2880265,NM_000238.4(KCNH2):c.268G>T (p.Glu90Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958139:AC:A,KCNH2,VCV002858211,2858211,NM_000238.4(KCNH2):c.835del (p.Val279fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150946925:C:CA,KCNH2,VCV002832789,2832789,NM_000238.4(KCNH2):c.3281dup (p.Leu1095fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948906:ACTCAGGGT:A,KCNH2,VCV002821739,2821739,NM_000238.4(KCNH2):c.2534_2541del (p.Tyr845fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952722:G:C,KCNH2,VCV002814358,2814358,NM_000238.4(KCNH2):c.1260C>G (p.Tyr420Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150957440:AG:A,KCNH2,VCV002813131,2813131,NM_000238.4(KCNH2):c.978del (p.Tyr327fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958217:G:GC,KCNH2,VCV002790199,2790199,NM_000238.4(KCNH2):c.757dup (p.Ala253fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948995:G:C,KCNH2,VCV002773436,2773436,NM_000238.4(KCNH2):c.2453C>G (p.Ser818Trp),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947795:GCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCC:G,KCNH2,VCV002773424,2773424,NM_000238.4(KCNH2):c.2742_2775del (p.Ala915fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952632:C:CTGGCAGGCGTAGCCACACTCGG,KCNH2,VCV002772506,2772506,NM_000238.4(KCNH2):c.1328_1349dup (p.Gln450fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950146:GTGCCCGCCCCCCACCCCATACC:G,KCNH2,VCV002770983,2770983,NM_000238.4(KCNH2):c.2398_2398+21del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947384:C:CCG,KCNH2,VCV002763043,2763043,NM_000238.4(KCNH2):c.3094_3095dup (p.Arg1033fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952800:GC:G,KCNH2,VCV002760013,2760013,NM_000238.4(KCNH2):c.1181del (p.Arg394fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951768:TA:T,KCNH2,VCV002758800,2758800,NM_000238.4(KCNH2):c.1624del (p.Tyr542fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150946808:AGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCT:A,KCNH2,VCV002758297,2758297,NM_000238.4(KCNH2):c.3194_3330+68del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958207:G:GA,KCNH2,VCV002754986,2754986,NM_000238.4(KCNH2):c.767dup (p.Asn257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958315:GT:G,KCNH2,VCV002753718,2753718,NM_000238.4(KCNH2):c.659del (p.Asn220fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948483:G:GTTGCC,KCNH2,VCV002748964,2748964,NM_000238.4(KCNH2):c.2648_2652dup (p.Arg885fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951767:G:T,KCNH2,VCV002748626,2748626,NM_000238.4(KCNH2):c.1626C>A (p.Tyr542Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974846:C:A,KCNH2,VCV002746100,2746100,NM_000238.4(KCNH2):c.172G>T (p.Glu58Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947378:G:GGGCC,KCNH2,VCV002745936,2745936,NM_000238.4(KCNH2):c.3098_3101dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947055:C:G,KCNH2,VCV002744101,2744101,NM_000238.4(KCNH2):c.3153-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951515:GC:G,KCNH2,VCV002735100,2735100,NM_000238.4(KCNH2):c.1877del (p.Gly626fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951109:CA:C,KCNH2,VCV002735098,2735098,NM_000238.4(KCNH2):c.1956del (p.Met651_Tyr652insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150949051:T:C,KCNH2,VCV002735096,2735096,NM_000238.4(KCNH2):c.2399-2A>G,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958121:GCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTT:ACGCCTCGGGCTC,KCNH2,VCV002727880,2727880,NM_000238.4(KCNH2):c.769_854delinsGAGCCCGAGGCGT (p.Asn257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950402:CAG:C,KCNH2,VCV002725070,2725070,NM_000238.4(KCNH2):c.2162_2163del (p.Pro721fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950409:G:GC,KCNH2,VCV002698764,2698764,NM_000238.4(KCNH2):c.2156dup (p.Phe720fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947804:GCCGGCCCCGGCTACTCGGC:G,KCNH2,VCV002694065,2694065,NM_000238.4(KCNH2):c.2748_2766del (p.Pro917fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150946949:A:AC,KCNH2,VCV002687478,2687478,NM_000238.4(KCNH2):c.3257_3258insG (p.Gly1087fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951639:C:T,KCNH2,VCV002665002,2665002,NM_000238.4(KCNH2):c.1754G>A (p.Trp585Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947853:CG:C,KCNH2,VCV002664629,2664629,NM_000238.4(KCNH2):c.2717del (p.Ser906fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947683:G:GGCCT,KCNH2,VCV002637626,2637626,NM_000238.4(KCNH2):c.2884_2887dup (p.Pro963fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150957325:TC:T,KCNH2,VCV002579645,2579645,NM_000238.4(KCNH2):c.1093del (p.Glu365fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948983:A:G,KCNH2,VCV002575020,2575020,NM_000238.4(KCNH2):c.2465T>C (p.Val822Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951699:G:C,KCNH2,VCV002574032,2574032,NM_000238.4(KCNH2):c.1694C>G (p.Ala565Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947360:GCTCTCCACGTCGCCCCG:CCGCCGACCC,KCNH2,VCV002571299,2571299,NM_000238.4(KCNH2):c.3103_3120delinsGGGTCGGCGG (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947643:GT:G,KCNH2,VCV002567296,2567296,NM_000238.4(KCNH2):c.2927del (p.Asp976fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951447:C:G,KCNH2,VCV002452993,2452993,NM_000238.4(KCNH2):c.1945+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150957427:CT:C,KCNH2,VCV002442075,2442075,NM_000238.4(KCNH2):c.991del (p.Ser331fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150946928:CGG:C,KCNH2,VCV002429379,2429379,NM_000238.4(KCNH2):c.3277_3278del (p.Pro1093fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947713:A:AG,KCNH2,VCV002227986,2227986,NM_000238.4(KCNH2):c.2857dup (p.Leu953fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951459:A:C,KCNH2,VCV002136626,2136626,NM_000238.4(KCNH2):c.1934T>G (p.Met645Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947034:G:GC,KCNH2,VCV002136623,2136623,NM_000238.4(KCNH2):c.3172dup (p.Ala1058fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952634:GGCAGGCGTAGCCACACTCGGTA:G,KCNH2,VCV002133333,2133333,NM_000238.4(KCNH2):c.1326_1347del (p.Thr443fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150945474:G:GC,KCNH2,VCV002130516,2130516,NM_000238.4(KCNH2):c.3370dup (p.Ala1124fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948544:C:G,KCNH2,VCV002128179,2128179,NM_000238.4(KCNH2):c.2593-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951045:TGGTA:T,KCNH2,VCV002125899,2125899,NM_000238.4(KCNH2):c.2017_2020del (p.Tyr673fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951488:G:T,KCNH2,VCV002121024,2121024,NM_000238.4(KCNH2):c.1905C>A (p.Asn635Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951710:CGCGATGA:C,KCNH2,VCV002120904,2120904,NM_000238.4(KCNH2):c.1676_1682del (p.Leu559fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951812:CG:C,KCNH2,VCV002095758,2095758,NM_000238.4(KCNH2):c.1580del (p.Ala527fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951469:TGGA:T,KCNH2,VCV002088283,2088283,NM_000238.4(KCNH2):c.1921_1923del (p.Ser641del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947872:T:TC,KCNH2,VCV002085464,2085464,NM_000238.4(KCNH2):c.2698dup (p.Glu900fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950260:A:AGT,KCNH2,VCV002078663,2078663,NM_000238.4(KCNH2):c.2304_2305dup (p.Leu769fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950406:G:GA,KCNH2,VCV002071298,2071298,NM_000238.4(KCNH2):c.2159dup (p.Pro721_Glu722insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950961:TG:T,KCNH2,VCV002062924,2062924,NM_000238.4(KCNH2):c.2104del (p.Gln702fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951769:A:G,KCNH2,VCV002055725,2055725,NM_000238.4(KCNH2):c.1624T>C (p.Tyr542His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951690:C:T,KCNH2,VCV002042701,2042701,NM_000238.4(KCNH2):c.1703G>A (p.Trp568Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150946955:C:CGGGGTGG,KCNH2,VCV002033107,2033107,NM_000238.4(KCNH2):c.3245_3251dup (p.Gly1085fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951345:AGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCAT:A,KCNH2,VCV002032030,2032030,NM_000238.4(KCNH2):c.1720_1945+102del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958414:GCCGCCCGCGCCGC:G,KCNH2,VCV002023450,2023450,NM_000238.4(KCNH2):c.548_560del (p.Gly183fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951627:A:AGGTT,KCNH2,VCV002016168,2016168,NM_000238.4(KCNH2):c.1762_1765dup (p.Leu589fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947376:C:CGGGG,KCNH2,VCV002012895,2012895,NM_000238.4(KCNH2):c.3100_3103dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947718:GCTGGAGCTGCGGC:G,KCNH2,VCV002002742,2002742,NM_000238.4(KCNH2):c.2840_2852del (p.Gly947fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958414:GCCGCCCGC:G,KCNH2,VCV001994302,1994302,NM_000238.4(KCNH2):c.553_560del (p.Ala185fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950275:G:GGT,KCNH2,VCV001994292,1994292,NM_000238.4(KCNH2):c.2289_2290dup (p.Pro764fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958488:AG:A,KCNH2,VCV001968946,1968946,NM_000238.4(KCNH2):c.486del (p.Phe163fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150957404:T:A,KCNH2,VCV001805233,1805233,NM_000238.4(KCNH2):c.1015A>T (p.Asn339Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947380:G:GC,KCNH2,VCV001804945,1804945,NM_000238.4(KCNH2):c.3099dup (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150957290:C:G,KCNH2,VCV001799488,1799488,NM_000238.4(KCNH2):c.1128+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947667:C:CGGCG,KCNH2,VCV001797445,1797445,NM_000238.4(KCNH2):c.2900_2903dup (p.Gly969fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947676:TC:T,KCNH2,VCV001797337,1797337,NM_000238.4(KCNH2):c.2894del (p.Gly965fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947808:G:GC,KCNH2,VCV001795706,1795706,NM_000238.4(KCNH2):c.2762dup (p.Arg922fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947819:TCGGCCCTGCCCCCGCC:T,KCNH2,VCV001795334,1795334,NM_000238.4(KCNH2):c.2736_2751del (p.Ala913fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947836:C:CG,KCNH2,VCV001795320,1795320,NM_000238.4(KCNH2):c.2734dup (p.Arg912fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947826:TGCCCCCGCCCGGCCCG:T,KCNH2,VCV001795256,1795256,NM_000238.4(KCNH2):c.2729_2744del (p.Pro910fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948488:CG:C,KCNH2,VCV001794263,1794263,NM_000238.4(KCNH2):c.2647del (p.Arg883fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948880:C:CA,KCNH2,VCV001793177,1793177,NM_000238.4(KCNH2):c.2567dup (p.Glu857fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950189:C:CG,KCNH2,VCV001790360,1790360,NM_000238.4(KCNH2):c.2376dup (p.Asp793fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974788:CG:A,KCNH2,VCV001789092,1789092,NM_000238.4(KCNH2):c.229_230delinsT (p.Arg77fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950421:C:G,KCNH2,VCV001786650,1786650,NM_000238.4(KCNH2):c.2146-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974746:TCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAG:T,KCNH2,VCV001785054,1785054,NM_000238.4(KCNH2):c.205_271del (p.Leu69fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951106:TAGCAT:A,KCNH2,VCV001783287,1783287,NM_000238.4(KCNH2):c.1955_1960delinsT (p.Tyr652fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951650:TG:T,KCNH2,VCV001779222,1779222,NM_000238.4(KCNH2):c.1742del (p.Ser581fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951731:CAT:C,KCNH2,VCV001777473,1777473,NM_000238.4(KCNH2):c.1660_1661del (p.Met554fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952596:C:CA,KCNH2,VCV001771379,1771379,NM_000238.4(KCNH2):c.1385dup (p.Met462fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150957503:C:A,KCNH2,VCV001766052,1766052,NM_000238.4(KCNH2):c.917-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958070:TGGCGCGGTGGCGG:T,KCNH2,VCV001765131,1765131,NM_000238.4(KCNH2):c.892_904del (p.Pro298fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974931:G:C,KCNH2,VCV001764714,1764714,NM_000238.4(KCNH2):c.87C>G (p.Phe29Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958047:CGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCT:C,KCNH2,VCV001762927,1762927,NM_000238.4(KCNH2):c.832_916+11del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958239:C:CG,KCNH2,VCV001758500,1758500,NM_000238.4(KCNH2):c.735dup (p.Gly246fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958417:G:GC,KCNH2,VCV001748411,1748411,NM_000238.4(KCNH2):c.557dup (p.Gly187fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150959576:GGCCA:G,KCNH2,VCV001742104,1742104,NM_000238.4(KCNH2):c.464_467del (p.Leu155fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150959582:C:T,KCNH2,VCV001742024,1742024,NM_000238.4(KCNH2):c.462G>A (p.Trp154Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150959646:AT:A,KCNH2,VCV001736686,1736686,NM_000238.4(KCNH2):c.397del (p.Met133fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947385:CGA:C,KCNH2,VCV001727478,1727478,NM_000238.4(KCNH2):c.3093_3094del (p.Arg1032fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950163:C:T,KCNH2,VCV001713142,1713142,NM_000238.4(KCNH2):c.2398+5G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958105:G:GGCCTC,KCNH2,VCV001711664,1711664,NM_000238.4(KCNH2):c.865_869dup (p.Met291fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947667:C:CG,KCNH2,VCV001711663,1711663,NM_000238.4(KCNH2):c.2903dup (p.Gly970fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950365:C:CGGCT,KCNH2,VCV001701539,1701539,NM_000238.4(KCNH2):c.2200_2201insAGCC (p.Arg734fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951573:AT:A,KCNH2,VCV001698966,1698966,NM_000238.4(KCNH2):c.1819del (p.Ile607fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974937:AC:A,KCNH2,VCV001683771,1683771,NM_000238.4(KCNH2):c.80del (p.Arg27fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150959644:C:A,KCNH2,VCV001683770,1683770,NM_000238.4(KCNH2):c.400G>T (p.Glu134Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951528:A:T,KCNH2,VCV001676088,1676088,NM_000238.4(KCNH2):c.1865T>A (p.Leu622His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951789:ACGCGCACCAGCCGCAGCAGCCG:A,KCNH2,VCV001675096,1675096,NM_000238.4(KCNH2):c.1582_1603del (p.Arg528fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947814:G:GCTACTCGGCCCTGCCCCCGCCCGGCC,KCNH2,VCV001527874,1527874,NM_000238.4(KCNH2):c.2731_2756dup (p.Ser919fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952585:T:G,KCNH2,VCV001527873,1527873,NM_000238.4(KCNH2):c.1397A>C (p.Asp466Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150977911:C:T,KCNH2,VCV001524546,1524546,NM_000238.4(KCNH2):c.3G>A (p.Met1Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951121:C:G,KCNH2,VCV001521307,1521307,NM_000238.4(KCNH2):c.1946-1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948959:AGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTG:A,KCNH2,VCV001499958,1499958,NM_000238.4(KCNH2):c.2399-108_2488del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150957504:T:C,KCNH2,VCV001488212,1488212,NM_000238.4(KCNH2):c.917-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951836:C:G,KCNH2,VCV001473108,1473108,NM_000238.4(KCNH2):c.1558-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952693:G:T,KCNH2,VCV001467197,1467197,NM_000238.4(KCNH2):c.1289C>A (p.Ala430Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974784:AGCGCGGCGCTGCGT:A,KCNH2,VCV001458718,1458718,NM_000238.4(KCNH2):c.220_233del (p.Thr74fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150959621:C:CG,KCNH2,VCV001458716,1458716,NM_000238.4(KCNH2):c.422dup (p.Ala142fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952677:CTCCTTCA:C,KCNH2,VCV001457690,1457690,NM_000238.4(KCNH2):c.1298_1304del (p.Leu433fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950952:C:T,KCNH2,VCV001456278,1456278,NM_000238.4(KCNH2):c.2114G>A (p.Trp705Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974807:C:CGTGCAGGAAGTCGCAG,KCNH2,VCV001456173,1456173,NM_000238.4(KCNH2):c.195_210dup (p.Gly71fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150949012:A:T,KCNH2,VCV001455507,1455507,NM_000238.4(KCNH2):c.2436T>A (p.Tyr812Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948451:CG:C,KCNH2,VCV001455493,1455493,NM_000238.4(KCNH2):c.2684del (p.Thr895fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150959579:CA:C,KCNH2,VCV001453664,1453664,NM_000238.4(KCNH2):c.464del (p.Leu155fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958153:TTCTCGGGAGCGCG:T,KCNH2,VCV001452777,1452777,NM_000238.4(KCNH2):c.809_821del (p.Thr270fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950944:T:TGTAG,KCNH2,VCV001452601,1452601,NM_000238.4(KCNH2):c.2118_2121dup (p.Thr708fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947392:G:GGC,KCNH2,VCV001452025,1452025,NM_000238.4(KCNH2):c.3086_3087dup (p.Pro1030fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948910:AGG:A,KCNH2,VCV001439179,1439179,NM_000238.4(KCNH2):c.2536_2537del (p.Tyr845_Pro846insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150945386:G:GT,KCNH2,VCV001434518,1434518,NM_000238.4(KCNH2):c.3458dup (p.His1153fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951471:G:T,KCNH2,VCV001424837,1424837,NM_000238.4(KCNH2):c.1922C>A (p.Ser641Tyr),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947440:GA:G,KCNH2,VCV001422891,1422891,NM_000238.4(KCNH2):c.3039del (p.Arg1014fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947370:T:TCGCCC,KCNH2,VCV001414553,1414553,NM_000238.4(KCNH2):c.3105_3109dup (p.Asp1037fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958169:CG:C,KCNH2,VCV001410227,1410227,NM_000238.4(KCNH2):c.805del (p.Arg269fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948889:C:T,KCNH2,VCV001406991,1406991,NM_000238.4(KCNH2):c.2559G>A (p.Trp853Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947629:C:CTGCTCTTCTCG,KCNH2,VCV001398420,1398420,NM_000238.4(KCNH2):c.2931_2941dup (p.Ser981fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951763:C:CT,KCNH2,VCV001397577,1397577,NM_000238.4(KCNH2):c.1629dup (p.Glu544fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150959625:GA:G,KCNH2,VCV001338861,1338861,NM_000238.4(KCNH2):c.418del (p.Ser140fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150977872:GA:G,KCNH2,VCV001335697,1335697,NM_000238.4(KCNH2):c.41del (p.Phe14fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150957290:C:T,KCNH2,VCV001334904,1334904,NM_000238.4(KCNH2):c.1128+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150977836:A:T,KCNH2,VCV001331098,1331098,NM_000238.4(KCNH2):c.76+2T>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958185:TGGAGCCCGAGGCGTCG:T,KCNH2,VCV001323136,1323136,NM_000238.4(KCNH2):c.774_789del (p.Asp259fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951685:C:A,KCNH2,VCV001284270,1284270,NM_000238.4(KCNH2):c.1708G>T (p.Ala570Ser),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947796:CC:A,KCNH2,VCV001219815,1219815,NM_000238.4(KCNH2):c.2774_2775delinsT (p.Gly925fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150957460:G:T,KCNH2,VCV001215035,1215035,NM_000238.4(KCNH2):c.959C>A (p.Ser320Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951592:CG:C,KCNH2,VCV001213540,1213540,NM_000238.4(KCNH2):c.1800del (p.Ser600fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150977836:A:AC,KCNH2,VCV001211558,1211558,NM_000238.4(KCNH2):c.76+1dup,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958394:ACGGCCCCCGGGGCGCCCGCGCCGCCCGC:CCCGGT,KCNH2,VCV001202184,1202184,NM_000238.4(KCNH2):c.553_581delinsACCGGG (p.Ala185fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950957:GT:G,KCNH2,VCV001201653,1201653,NM_000238.4(KCNH2):c.2108del (p.His703fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947447:CT:C,KCNH2,VCV001191999,1191999,NM_000238.4(KCNH2):c.3032del (p.Glu1011fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951535:T:C,KCNH2,VCV001189275,1189275,NM_000238.4(KCNH2):c.1858A>G (p.Ser620Gly),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952557:G:T,KCNH2,VCV001178326,1178326,NM_000238.4(KCNH2):c.1425C>A (p.Tyr475Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950421:C:T,KCNH2,VCV001163877,1163877,NM_000238.4(KCNH2):c.2146-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947611:A:AG,KCNH2,VCV001098796,1098796,NM_000238.4(KCNH2):c.2959dup (p.Leu987fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948450:C:CCGTG,KCNH2,VCV001076538,1076538,NM_000238.4(KCNH2):c.2682_2685dup (p.Asp896fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150946951:G:GC,KCNH2,VCV001076264,1076264,NM_000238.4(KCNH2):c.3255dup (p.Pro1086fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947371:CGCCCCGGG:C,KCNH2,VCV001074304,1074304,NM_000238.4(KCNH2):c.3101_3108del (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947639:C:CGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCCTCCAG,KCNH2,VCV001073738,1073738,NM_000238.4(KCNH2):c.2931_2932insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu978fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150957462:GGT:G,KCNH2,VCV001072804,1072804,NM_000238.4(KCNH2):c.955_956del (p.Thr319fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948455:C:CGCCTG,KCNH2,VCV001072580,1072580,NM_000238.4(KCNH2):c.2676_2680dup (p.Arg894fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947373:C:CCCCGGGGCCG,KCNH2,VCV001072040,1072040,NM_000238.4(KCNH2):c.3097_3106dup (p.Gly1036fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951681:A:ATGGCG,KCNH2,VCV001070567,1070567,NM_000238.4(KCNH2):c.1707_1711dup (p.Ile571fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947380:GCCGCCGACCCGGGC:G,KCNH2,VCV001070541,1070541,NM_000238.4(KCNH2):c.3086_3099del (p.Ser1029fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974775:CTGCGCGGCAGCGCGGCGCTGCG:C,KCNH2,VCV001070208,1070208,NM_000238.4(KCNH2):c.221_242del (p.Thr74fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958418:CCCGCGCCGCCCGA:C,KCNH2,VCV001069329,1069329,NM_000238.4(KCNH2):c.544_556del (p.Ser182fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952509:GACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGT:G,KCNH2,VCV001069284,1069284,NM_000238.4(KCNH2):c.1420_1472del (p.Thr474fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948892:GA:G,KCNH2,VCV001068978,1068978,NM_000238.4(KCNH2):c.2555del (p.Phe852fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951565:T:C,KCNH2,VCV001066309,1066309,NM_000238.4(KCNH2):c.1828A>G (p.Lys610Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150957276:CCGCTGGGCGC:GT,KCNH2,VCV001064627,1064627,NM_000238.4(KCNH2):c.1128+5_1128+15delinsAC,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150949076:CT:C,KCNH2,VCV001064605,1064605,NM_000238.4(KCNH2):c.2399-28del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951562:ACTTGTC:A,KCNH2,VCV001058879,1058879,NM_000238.4(KCNH2):c.1825_1830del (p.Asp609_Lys610del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951496:T:G,KCNH2,VCV001001814,1001814,NM_000238.4(KCNH2):c.1897A>C (p.Asn633His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947162:GGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCC:G,KCNH2,VCV000992792,992792,NM_000238.4(KCNH2):c.2692+167_3153-109del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948459:TG:T,KCNH2,VCV000983076,983076,NM_000238.4(KCNH2):c.2676del (p.Arg893fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951098:GA:G,KCNH2,VCV000979201,979201,NM_000238.4(KCNH2):c.1967del (p.Phe656fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950221:A:G,KCNH2,VCV000977169,977169,NM_000238.4(KCNH2):c.2345T>C (p.Ile782Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951484:C:A,KCNH2,VCV000977166,977166,NM_000238.4(KCNH2):c.1909G>T (p.Glu637Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952753:C:T,KCNH2,VCV000972695,972695,NM_000238.4(KCNH2):c.1229G>A (p.Trp410Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974872:C:A,KCNH2,VCV000972694,972694,NM_000238.4(KCNH2):c.146G>T (p.Cys49Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150957416:G:A,KCNH2,VCV000968402,968402,NM_000238.4(KCNH2):c.1003C>T (p.Gln335Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958161:AGC:A,KCNH2,VCV000960485,960485,NM_000238.4(KCNH2):c.812_813del (p.Arg271fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951646:T:TGC,KCNH2,VCV000958799,958799,NM_000238.4(KCNH2):c.1745_1746dup (p.Ile583fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150957391:AG:A,KCNH2,VCV000956361,956361,NM_000238.4(KCNH2):c.1027del (p.Leu343fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958266:GAC:G,KCNH2,VCV000955885,955885,NM_000238.4(KCNH2):c.707_708del (p.Gly236fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947800:C:CCCGG,KCNH2,VCV000949692,949692,NM_000238.4(KCNH2):c.2767_2770dup (p.Gly924fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947367:A:ACGTCG,KCNH2,VCV000947666,947666,NM_000238.4(KCNH2):c.3108_3112dup (p.Val1038fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947610:CA:C,KCNH2,VCV000943648,943648,NM_000238.4(KCNH2):c.2960del (p.Leu987fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951705:C:T,KCNH2,VCV000943351,943351,NM_000238.4(KCNH2):c.1688G>A (p.Trp563Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951097:CG:AA,KCNH2,VCV000943187,943187,NM_000238.4(KCNH2):c.1968_1969delinsTT (p.Gly657Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,MNV_or_substitution,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951076:GGATGATGGCCGACACGTTGCCGAA:G,KCNH2,VCV000941189,941189,NM_000238.4(KCNH2):c.1966_1989del (p.Phe656_Ile663del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952784:TG:T,KCNH2,VCV000939419,939419,NM_000238.4(KCNH2):c.1197del (p.Ile400fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948478:CTTGCG:C,KCNH2,VCV000937320,937320,NM_000238.4(KCNH2):c.2653_2657del (p.Arg885fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950279:CAT:C,KCNH2,VCV000937182,937182,NM_000238.4(KCNH2):c.2285_2286del (p.His762fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951117:AGGGCTGG:A,KCNH2,VCV000936138,936138,NM_000238.4(KCNH2):c.1946-4_1948del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958070:TG:T,KCNH2,VCV000934348,934348,NM_000238.4(KCNH2):c.904del (p.His302fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947373:CCCCGGGG:GCC,KCNH2,VCV000928528,928528,NM_000238.4(KCNH2):c.3100_3107delinsGGC (p.Pro1034fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947517:G:C,KCNH2,VCV000871784,871784,NM_000238.4(KCNH2):c.2966-3C>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974923:G:A,KCNH2,VCV000869439,869439,NM_000238.4(KCNH2):c.95C>T (p.Ala32Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951460:T:G,KCNH2,VCV000869431,869431,NM_000238.4(KCNH2):c.1933A>C (p.Met645Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974820:G:T,KCNH2,VCV000863419,863419,NM_000238.4(KCNH2):c.198C>A (p.Cys66Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150957305:C:CAG,KCNH2,VCV000858246,858246,NM_000238.4(KCNH2):c.1112_1113dup (p.Glu372fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974807:C:A,KCNH2,VCV000853484,853484,NM_000238.4(KCNH2):c.211G>T (p.Gly71Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951814:CA:C,KCNH2,VCV000851169,851169,NM_000238.4(KCNH2):c.1578del (p.Ala527fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958467:G:GC,KCNH2,VCV000850821,850821,NM_000238.4(KCNH2):c.507dup (p.Leu170fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948492:TGAAGCCACCC:T,KCNH2,VCV000846538,846538,NM_000238.4(KCNH2):c.2634_2643del (p.Gly879fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958194:AGGCGTCG:A,KCNH2,VCV000835590,835590,NM_000238.4(KCNH2):c.774_780del (p.Asp259fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150957316:TG:T,KCNH2,VCV000818076,818076,NM_000238.4(KCNH2):c.1102del (p.His368fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947784:C:CTCCCCCCA,KCNH2,VCV000817961,817961,NM_000238.4(KCNH2):c.2779_2786dup (p.Glu929fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947343:TGGAG:T,KCNH2,VCV000817602,817602,NM_000238.4(KCNH2):c.3133_3136del (p.Leu1045fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952564:G:A,KCNH2,VCV000811073,811073,NM_000238.4(KCNH2):c.1418C>T (p.Thr473Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952423:A:G,KCNH2,VCV000695023,695023,NM_000238.4(KCNH2):c.1557+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974767:TGCGCGATCTGCGCGGCAGC:T,KCNH2,VCV000692260,692260,NM_000238.4(KCNH2):c.232_250del (p.Ala78fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948519:C:CG,KCNH2,VCV000692259,692259,NM_000238.4(KCNH2):c.2616dup (p.Gly873fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947377:G:GGGGC,KCNH2,VCV000692257,692257,NM_000238.4(KCNH2):c.3099_3102dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951082:TG:T,KCNH2,VCV000667408,667408,NM_000238.4(KCNH2):c.1983del (p.Ile662fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948446:T:GTGTCG,KCNH2,VCV000663923,663923,NM_000238.4(KCNH2):c.2690delinsCGACAC (p.Lys897fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974871:GC:TT,KCNH2,VCV000663471,663471,NM_000238.4(KCNH2):c.146_147delinsAA (p.Cys49Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947039:C:CA,KCNH2,VCV000660047,660047,NM_000238.4(KCNH2):c.3167dup (p.Ser1057fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150946975:AGGCGGGC:A,KCNH2,VCV000657779,657779,NM_000238.4(KCNH2):c.3225_3231del (p.Pro1076fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952602:GT:G,KCNH2,VCV000652241,652241,NM_000238.4(KCNH2):c.1379del (p.Asp460fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951738:A:T,KCNH2,VCV000648088,648088,NM_000238.4(KCNH2):c.1655T>A (p.Leu552Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974933:AC:A,KCNH2,VCV000645394,645394,NM_000238.4(KCNH2):c.84del (p.Lys28fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974767:T:TGCGCGATCTGCGCGGCA,KCNH2,VCV000641517,641517,NM_000238.4(KCNH2):c.234_250dup (p.Gln84fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950308:GC:G,KCNH2,VCV000640022,640022,NM_000238.4(KCNH2):c.2257del (p.Ala753fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947371:C:CG,KCNH2,VCV000637977,637977,NM_000238.4(KCNH2):c.3108dup (p.Asp1037fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952842:CA:C,KCNH2,VCV000632866,632866,NM_000238.4(KCNH2):c.1139del (p.Leu380fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951063:G:T,KCNH2,VCV000620172,620172,NM_000238.4(KCNH2):c.2003C>A (p.Ser668Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952634:G:A,KCNH2,VCV000620154,620154,NM_000238.4(KCNH2):c.1348C>T (p.Gln450Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951520:C:G,KCNH2,VCV000618184,618184,NM_000238.4(KCNH2):c.1873G>C (p.Val625Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947865:TG:T,KCNH2,VCV000598783,598783,NM_000238.4(KCNH2):c.2705del (p.Pro902fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958047:CGGCGCCCTCACCGGTGCT:C,KCNH2,VCV000582292,582292,NM_000238.4(KCNH2):c.910_916+11del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951638:C:G,KCNH2,VCV000581669,581669,NM_000238.4(KCNH2):c.1755G>C (p.Trp585Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150977836:ACT:A,KCNH2,VCV000579489,579489,NM_000238.4(KCNH2):c.76_76+1del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951702:A:T,KCNH2,VCV000572344,572344,NM_000238.4(KCNH2):c.1691T>A (p.Leu564Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947370:T:TCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGG,KCNH2,VCV000570715,570715,NM_000238.4(KCNH2):c.1129-831_3109dup,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951499:GAGAGACGTTG:CTTCA,KCNH2,VCV000570494,570494,NM_000238.4(KCNH2):c.1884_1894delinsTGAAG (p.Asn629_Pro632delinsGluAla),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947640:G:T,KCNH2,VCV000568003,568003,NM_000238.4(KCNH2):c.2931C>A (p.Cys977Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952848:CAG:C,KCNH2,VCV000565724,565724,NM_000238.4(KCNH2):c.1132_1133del (p.Leu378fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951545:G:C,KCNH2,VCV000560696,560696,NM_000238.4(KCNH2):c.1848C>G (p.Tyr616Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947391:GG:CGGGAGACCC,KCNH2,VCV000545950,545950,NM_000238.4(KCNH2):c.3088_3089delinsGGGTCTCCCG (p.Pro1030fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150959573:TG:T,KCNH2,VCV000526969,526969,NM_000238.4(KCNH2):c.470del (p.Pro157fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951704:C:T,KCNH2,VCV000526968,526968,NM_000238.4(KCNH2):c.1689G>A (p.Trp563Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947832:CGCCCG:C,KCNH2,VCV000526939,526939,NM_000238.4(KCNH2):c.2734_2738del (p.Arg912fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150977847:C:CA,KCNH2,VCV000526932,526932,NM_000238.4(KCNH2):c.66dup (p.Glu23Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958438:CGACGACTCCCGGGCCGTCAGCGCCA:C,KCNH2,VCV000526925,526925,NM_000238.4(KCNH2):c.512_536del (p.Leu171fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948478:C:CT,KCNH2,VCV000526908,526908,NM_000238.4(KCNH2):c.2657dup (p.Arg887fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958423:G:GCCGCCCGA,KCNH2,VCV000524038,524038,NM_000238.4(KCNH2):c.544_551dup (p.Ala185fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947372:G:GCCCCGGGGCCGCC,KCNH2,VCV000523953,523953,NM_000238.4(KCNH2):c.3095_3107dup (p.Asp1037fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150945390:CTG:C,KCNH2,VCV000523712,523712,NM_000238.4(KCNH2):c.3453_3454del (p.His1151fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958430:G:GACCGCACC,KCNH2,VCV000523697,523697,NM_000238.4(KCNH2):c.537_544dup (p.Ser182fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974926:A:T,KCNH2,VCV000520423,520423,NM_000238.4(KCNH2):c.92T>A (p.Ile31Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951772:GA:G,KCNH2,VCV000519551,519551,NM_000238.4(KCNH2):c.1620del (p.Arg541fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947014:G:A,KCNH2,VCV000519524,519524,NM_000238.4(KCNH2):c.3193C>T (p.Gln1065Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947798:CCCCCGGCCGG:C,KCNH2,VCV000519509,519509,NM_000238.4(KCNH2):c.2763_2772del (p.Arg922fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974856:G:C,KCNH2,VCV000519501,519501,NM_000238.4(KCNH2):c.162C>G (p.Tyr54Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950329:GC:G,KCNH2,VCV000519473,519473,NM_000238.4(KCNH2):c.2236del (p.Ala746fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952691:A:G,KCNH2,VCV000519399,519399,NM_000238.4(KCNH2):c.1291T>C (p.Phe431Leu),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948449:TCCGTGCG:T,KCNH2,VCV000519378,519378,NM_000238.4(KCNH2):c.2680_2686del (p.Arg894fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947386:G:GACCC,KCNH2,VCV000519348,519348,NM_000238.4(KCNH2):c.3090_3093dup (p.Arg1032fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951504:AC:A,KCNH2,VCV000519330,519330,NM_000238.4(KCNH2):c.1888del (p.Val630fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958163:C:CT,KCNH2,VCV000519329,519329,NM_000238.4(KCNH2):c.811_812insA (p.Arg271fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947377:GGGGCCGCCGACCC:G,KCNH2,VCV000519327,519327,NM_000238.4(KCNH2):c.3090_3102del (p.Arg1032fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958167:TCCG:ACT,KCNH2,VCV000519255,519255,NM_000238.4(KCNH2):c.805_808delinsAGT (p.Arg269fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958064:C:CTGGCG,KCNH2,VCV000519237,519237,NM_000238.4(KCNH2):c.906_910dup (p.Ser304fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948996:ACTTGCCAGGC:A,KCNH2,VCV000519234,519234,NM_000238.4(KCNH2):c.2442_2451del (p.Arg814fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150946876:C:T,KCNH2,VCV000519217,519217,NM_000238.4(KCNH2):c.3330+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974710:CC:AA,KCNH2,VCV000519204,519204,NM_000238.4(KCNH2):c.307_307+1delinsTT,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951537:AAGGTGAAGT:A,KCNH2,VCV000503778,503778,NM_000238.4(KCNH2):c.1847_1855del (p.Tyr616_Thr618del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974766:CTGCGCGATCTGCGCGGCAGCGCGGCGCTGCG:C,KCNH2,VCV000503735,503735,NM_000238.4(KCNH2):c.221_251del (p.Thr74fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950159:ACCCCATAC:A,KCNH2,VCV000503674,503674,NM_000238.4(KCNH2):c.2398+1_2398+8del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947373:CCCCGGGGCCGCCGA:C,KCNH2,VCV000503672,503672,NM_000238.4(KCNH2):c.3093_3106del (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947367:A:ACGTCGCC,KCNH2,VCV000503659,503659,NM_000238.4(KCNH2):c.3106_3112dup (p.Val1038fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947804:GC:G,KCNH2,VCV000495746,495746,NM_000238.4(KCNH2):c.2766del (p.Pro923fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951686:G:C,KCNH2,VCV000489342,489342,NM_000238.4(KCNH2):c.1707C>G (p.Tyr569Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974856:G:T,KCNH2,VCV000488895,488895,NM_000238.4(KCNH2):c.162C>A (p.Tyr54Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948510:C:A,KCNH2,VCV000488692,488692,NM_000238.4(KCNH2):c.2626G>T (p.Glu876Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150959583:C:T,KCNH2,VCV000456935,456935,NM_000238.4(KCNH2):c.461G>A (p.Trp154Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947373:C:CCCCGGGG,KCNH2,VCV000456921,456921,NM_000238.4(KCNH2):c.3100_3106dup (p.Gly1036fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947381:C:CCG,KCNH2,VCV000456919,456919,NM_000238.4(KCNH2):c.3097_3098dup (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947383:G:GCCGAC,KCNH2,VCV000456918,456918,NM_000238.4(KCNH2):c.3092_3096dup (p.Arg1033fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950347:C:CA,KCNH2,VCV000456904,456904,NM_000238.4(KCNH2):c.2218dup (p.Cys740fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950248:CCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGT:C,KCNH2,VCV000456903,456903,NM_000238.4(KCNH2):c.2180_2317del (p.Asp727_Ala772del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950421:CTG:TT,KCNH2,VCV000456902,456902,NM_000238.4(KCNH2):c.2146-3_2146-1delinsAA,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951004:G:A,KCNH2,VCV000456901,456901,NM_000238.4(KCNH2):c.2062C>T (p.Gln688Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952646:C:CA,KCNH2,VCV000456886,456886,NM_000238.4(KCNH2):c.1335dup (p.Gly446fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150957296:TGA:T,KCNH2,VCV000456876,456876,NM_000238.4(KCNH2):c.1121_1122del (p.Val374fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947005:G:A,KCNH2,VCV000446417,446417,NM_000238.4(KCNH2):c.3202C>T (p.Gln1068Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952424:C:G,KCNH2,VCV000439845,439845,NM_000238.4(KCNH2):c.1557+1G>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947389:C:CCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCA,KCNH2,VCV000431374,431374,NM_000238.4(KCNH2):c.2906_3089dup (p.Gly989_Ala990insIleProGlyAspGlyArgAlaArgGluAspArgAlaTrpGlnArgTrpCysValTyrProAlaHisProAlaLeuLeuSerGlyCysArgArgLeuLeuArgSerValGlnHisPheGlnLeuLeuGlyGlyGlnSerGlyProProValProGlyAlaProSerMetProArgProHisProGlnProProGlnHisProProLeuGlnProValGlySerProTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947631:GCTCTT:G,KCNH2,VCV000431036,431036,NM_000238.4(KCNH2):c.2935_2939del (p.Lys979fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948456:G:GCCTGC,KCNH2,VCV000430730,430730,NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951114:A:C,KCNH2,VCV000427945,427945,NM_000238.4(KCNH2):c.1952T>G (p.Met651Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951027:AC:A,KCNH2,VCV000427944,427944,NM_000238.4(KCNH2):c.2038del (p.Val680fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951096:C:A,KCNH2,VCV000427076,427076,NM_000238.4(KCNH2):c.1970G>T (p.Gly657Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150958306:TGCCA:G,KCNH2,VCV000426429,426429,NM_000238.4(KCNH2):c.665_669delinsC (p.Val222fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951473:G:C,KCNH2,VCV000423753,423753,NM_000238.4(KCNH2):c.1920C>G (p.Phe640Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950937:CCG:C,KCNH2,VCV000423696,423696,NM_000238.4(KCNH2):c.2127_2128del (p.Asn709fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947419:T:TG,KCNH2,VCV000423015,423015,NM_000238.4(KCNH2):c.3060dup (p.Ser1021fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947683:GG:T,KCNH2,VCV000421672,421672,NM_000238.4(KCNH2):c.2887_2888delinsA (p.Pro963fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950983:G:A,KCNH2,VCV000420923,420923,NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947367:ACGTCGCCCCGGGGC:A,KCNH2,VCV000420585,420585,NM_000238.4(KCNH2):c.3099_3112del (p.Pro1034fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150959706:A:ACCACATC,KCNH2,VCV000420260,420260,NM_000238.4(KCNH2):c.331_337dup (p.Val113fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951509:GC:G,KCNH2,VCV000419410,419410,NM_000238.4(KCNH2):c.1883del (p.Gly628fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150952468:GC:G,KCNH2,VCV000419379,419379,NM_000238.4(KCNH2):c.1513del (p.Ala505fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951667:G:A,KCNH2,VCV000419311,419311,NM_000238.4(KCNH2):c.1726C>T (p.Gln576Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150957370:GC:G,KCNH2,VCV000418919,418919,NM_000238.4(KCNH2):c.1048del (p.Ala350fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947618:T:TG,KCNH2,VCV000418815,418815,NM_000238.4(KCNH2):c.2952dup (p.Asn985fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948977:GC:G,KCNH2,VCV000418787,418787,NM_000238.4(KCNH2):c.2470del (p.Ala824fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150959587:TGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCA:T,KCNH2,VCV000418670,418670,NM_000238.4(KCNH2):c.395_456del (p.Val132fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974854:G:T,KCNH2,VCV000418597,418597,NM_000238.4(KCNH2):c.164C>A (p.Ser55Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947370:T:TCGCCCCGGGGC,KCNH2,VCV000405358,405358,NM_000238.4(KCNH2):c.3099_3109dup (p.Asp1037fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150959641:TC:T,KCNH2,VCV000405355,405355,NM_000238.4(KCNH2):c.402del (p.Lys135fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951065:G:GT,KCNH2,VCV000405345,405345,NM_000238.4(KCNH2):c.2000dup (p.Tyr667Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950200:A:ATC,KCNH2,VCV000405342,405342,NM_000238.4(KCNH2):c.2364_2365dup (p.Ile789fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951542:G:T,KCNH2,VCV000392690,392690,NM_000238.4(KCNH2):c.1851C>A (p.Phe617Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951464:G:T,KCNH2,VCV000392341,392341,NM_000238.4(KCNH2):c.1929C>A (p.Cys643Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150951678:C:G,KCNH2,VCV000391858,391858,NM_000238.4(KCNH2):c.1715G>C (p.Gly572Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150948439:C:A,KCNH2,VCV000387850,387850,NM_000238.4(KCNH2):c.2692+5G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150959738:T:C,KCNH2,VCV000379451,379451,NM_000238.4(KCNH2):c.308-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947453:G:C,KCNH2,VCV000379293,379293,NM_000238.4(KCNH2):c.3027C>G (p.Tyr1009Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947006:T:TA,KCNH2,VCV000372942,372942,NM_000238.4(KCNH2):c.3200dup (p.Gln1068fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150974897:C:G,KCNH2,VCV000372589,372589,NM_000238.4(KCNH2):c.121G>C (p.Val41Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947372:G:GCC,KCNH2,VCV000372571,372571,NM_000238.4(KCNH2):c.3106_3107dup (p.Asp1037fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150947380:GC:G,KCNH2,VCV000372378,372378,NM_000238.4(KCNH2):c.3099del (p.Arg1035fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:150950167:C:A,KCNH2,VCV000372377,372377,NM_000238.4(KCNH2):c.2398+1G>T,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-3:38557241:T:C,SCN5A,VCV004814196,4814196,NM_000335.5(SCN5A):c.4286A>G (p.Asp1429Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38556563:G:A,SCN5A,VCV004814157,4814157,NM_000335.5(SCN5A):c.4312C>T (p.Gln1438Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38555679:GGGGCTTCTT:G,SCN5A,VCV004814013,4814013,NM_000335.5(SCN5A):c.4507_4515del (p.Lys1503_Pro1505del),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38603729:C:A,SCN5A,VCV004757059,4757059,NM_000335.5(SCN5A):c.1873G>T (p.Glu625Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38551453:GC:G,SCN5A,VCV004733790,4733790,NM_000335.5(SCN5A):c.4915del (p.Ala1639fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38630345:TG:T,SCN5A,VCV004731428,4731428,NM_000335.5(SCN5A):c.357del (p.Ile120fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38630309:A:G,SCN5A,VCV004730817,4730817,NM_000335.5(SCN5A):c.392+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581324:GT:G,SCN5A,VCV004727300,4727300,NM_000335.5(SCN5A):c.2834del (p.Asp945fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38587440:GA:G,SCN5A,VCV004723344,4723344,NM_000335.5(SCN5A):c.2395del (p.Ser799fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38603889:AC:A,SCN5A,VCV004722126,4722126,NM_000335.5(SCN5A):c.1712del (p.Ser571fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38550953:G:A,SCN5A,VCV004721301,4721301,NM_000335.5(SCN5A):c.5416C>T (p.Gln1806Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38613801:GAC:G,SCN5A,VCV004720439,4720439,NM_000335.5(SCN5A):c.643_644del (p.Val215fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581225:C:T,SCN5A,VCV004717480,4717480,NM_000335.5(SCN5A):c.2934G>A (p.Trp978Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38557283:GC:G,SCN5A,VCV004716661,4716661,NM_001099405.2(SCN5A):c.4246-706del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38597930:C:T,SCN5A,VCV004716468,4716468,NM_000335.5(SCN5A):c.2061G>A (p.Trp687Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38557236:TG:T,SCN5A,VCV004714862,4714862,NM_000335.5(SCN5A):c.4290del (p.Arg1431fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38576755:GC:G,SCN5A,VCV004712144,4712144,NM_000335.5(SCN5A):c.3413del (p.Gly1138fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38556493:A:T,SCN5A,VCV004681217,4681217,NM_000335.5(SCN5A):c.4382T>A (p.Leu1461Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38562538:C:G,SCN5A,VCV004614942,4614942,NM_000335.5(SCN5A):c.3838-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38608150:C:G,SCN5A,VCV004614940,4614940,NM_000335.5(SCN5A):c.998+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38599038:C:A,SCN5A,VCV004614936,4614936,NM_000335.5(SCN5A):c.1903G>T (p.Glu635Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38613756:T:TA,SCN5A,VCV004537605,4537605,NM_000335.5(SCN5A):c.689dup (p.Ser231fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38556576:A:C,SCN5A,VCV004536358,4536358,NM_000335.5(SCN5A):c.4299T>G (p.Tyr1433Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38606140:C:A,SCN5A,VCV004531893,4531893,NM_000335.5(SCN5A):c.1149G>T (p.Arg383Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38597749:TCTC:T,SCN5A,VCV004530664,4530664,NM_000335.5(SCN5A):c.2236GAG[1] (p.Glu747del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38585841:C:T,SCN5A,VCV004526988,4526988,NM_000335.5(SCN5A):c.2637G>A (p.Trp879Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38620842:C:A,SCN5A,VCV004160653,4160653,NM_000335.5(SCN5A):c.611+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38609896:CTG:C,SCN5A,VCV004160651,4160651,NM_000335.5(SCN5A):c.770_771del (p.Thr257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38585897:A:AG,SCN5A,VCV004084973,4084973,NM_000335.5(SCN5A):c.2580dup (p.Phe861fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38550472:G:A,SCN5A,VCV004082128,4082128,NM_000335.5(SCN5A):c.5897C>T (p.Ser1966Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38606687:C:G,SCN5A,VCV004071999,4071999,NM_000335.5(SCN5A):c.1122G>C (p.Trp374Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38560422:C:A,SCN5A,VCV003898691,3898691,NM_000335.5(SCN5A):c.3967G>T (p.Val1323Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38551118:AG:A,SCN5A,VCV003895188,3895188,NM_000335.5(SCN5A):c.5250del (p.Phe1751fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38550902:GC:G,SCN5A,VCV003894898,3894898,NM_000335.5(SCN5A):c.5466del (p.Glu1822fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38606698:G:A,SCN5A,VCV003894008,3894008,NM_000335.5(SCN5A):c.1111C>T (p.Gln371Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38556500:A:AG,SCN5A,VCV003893711,3893711,NM_000335.5(SCN5A):c.4374dup (p.Phe1459fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38620885:CG:C,SCN5A,VCV003793221,3793221,NM_000335.5(SCN5A):c.568del (p.Arg190fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38576677:CT:A,SCN5A,VCV003793218,3793218,NM_000335.5(SCN5A):c.3491_3492delinsT (p.Glu1164fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38606773:C:A,SCN5A,VCV003778738,3778738,NM_000335.5(SCN5A):c.1036G>T (p.Glu346Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38585783:A:ACTCTC,SCN5A,VCV003773853,3773853,NM_000335.5(SCN5A):c.2690_2694dup (p.Trp899fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38560424:AC:A,SCN5A,VCV003772281,3772281,NM_000335.5(SCN5A):c.3964del (p.Val1322fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581355:AG:A,SCN5A,VCV003766453,3766453,NM_000335.5(SCN5A):c.2803del (p.Leu935fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38604795:T:TGA,SCN5A,VCV003730868,3730868,NM_000335.5(SCN5A):c.1450_1451dup (p.Gly485fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38580981:C:A,SCN5A,VCV003729291,3729291,NM_000335.5(SCN5A):c.3178G>T (p.Glu1060Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38555654:A:G,SCN5A,VCV003727847,3727847,NM_000335.5(SCN5A):c.4539+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38551375:A:AG,SCN5A,VCV003723601,3723601,NM_000335.5(SCN5A):c.4993dup (p.Leu1665fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38613831:G:C,SCN5A,VCV003723452,3723452,NM_000335.5(SCN5A):c.615C>G (p.Tyr205Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38620958:C:CG,SCN5A,VCV003722844,3722844,NM_000335.5(SCN5A):c.495dup (p.Ala166fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38562511:G:GT,SCN5A,VCV003722003,3722003,NM_000335.5(SCN5A):c.3863dup (p.Asn1288fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38604029:TG:T,SCN5A,VCV003721680,3721680,NM_000335.5(SCN5A):c.1572del (p.Ser525fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38556558:C:T,SCN5A,VCV003720482,3720482,NM_000335.5(SCN5A):c.4317G>A (p.Trp1439Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38579495:G:A,SCN5A,VCV003699241,3699241,NM_001099404.2(SCN5A):c.3229C>T (p.Gln1077Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38622468:CAT:C,SCN5A,VCV003668098,3668098,NM_000335.5(SCN5A):c.412_413del (p.Met138fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38551233:C:T,SCN5A,VCV003663041,3663041,NM_000335.5(SCN5A):c.5136G>A (p.Trp1712Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38562461:CG:C,SCN5A,VCV003662552,3662552,NM_000335.5(SCN5A):c.3913del (p.Arg1305fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38576745:CT:C,SCN5A,VCV003661184,3661184,NM_000335.5(SCN5A):c.3423del (p.Asp1142fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38550653:CCATGGCCGACACCTCTTCGTGCTTGCGCCGGAGTGTGGTGGTGATGGGCTCGTAGGAGATCTTGGATGGGTTGGCTGCCATGAACTTCTCCTCCATCTGGATCTTCAGGGCGTCCATCTCCCCAGACTCCCCCAGGACCCTTTTGGTGAAGGCAAAGAGAATGTCCATGCAATGGATGCGGTCCCCACTCACCATGGGCAGGTCCATGTTGATGAGGCTTATCTGGTTGGGCTTGGCGATACGGAGTGGCTCAGACAGGGCATCGGCAAAGTCAGACAGGACCGAATACTCAATAAACTGAGTGGCCTCTGGGTCAAATTTCTCCCAGATCTCATAGAACATATCGAAGTCGTCCTCACTCAGGGGCTCGGTGCTCTCCTCCGTGGCCACGCTGAAGTTCTCCAGGATGATGGCAATGTACATGTTGACCACGATGAGGAAGGAGATGATGATGTAGGTGGTGAAGAAGAGGATGCCCACGGCTGGGCTCCCGCAGTCCCCCCGAGAGCCATTGCTGTTGGGCAGAGTGGGGTCGCAGTAGGGCGGCCCAGTGTTGAGGATGGGG:C,SCN5A,VCV003660495,3660495,NM_000335.5(SCN5A):c.5151_5715del (p.Ser1717fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38550980:A:AT,SCN5A,VCV003653975,3653975,NM_000335.5(SCN5A):c.5388_5389insA (p.Trp1797fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38633076:C:A,SCN5A,VCV003649069,3649069,NM_000335.5(SCN5A):c.232G>T (p.Glu78Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38550851:G:GC,SCN5A,VCV003645763,3645763,NM_000335.5(SCN5A):c.5517dup (p.Pro1840fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38587574:C:G,SCN5A,VCV003644710,3644710,NM_000335.5(SCN5A):c.2263-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38551094:A:AGGAGATGATGATGTAGGTGGTGAAGAAGAGGAGAT,SCN5A,VCV003642736,3642736,NM_000335.5(SCN5A):c.5274_5275insATCTCCTCTTCTTCACCACCTACATCATCATCTCC (p.Phe1759fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38633069:AG:A,SCN5A,VCV003639026,3639026,NM_000335.5(SCN5A):c.238del (p.Leu80fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38587399:C:G,SCN5A,VCV003633347,3633347,NM_000335.5(SCN5A):c.2436+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38556531:A:C,SCN5A,VCV003600631,3600631,NM_000335.5(SCN5A):c.4344T>G (p.Tyr1448Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38554311:A:C,SCN5A,VCV003544406,3544406,NM_000335.5(SCN5A):c.4778T>G (p.Phe1593Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38604025:CG:C,SCN5A,VCV003438263,3438263,NM_000335.5(SCN5A):c.1576del (p.Arg526fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38587400:C:CAGGCG,SCN5A,VCV003385944,3385944,NM_000335.5(SCN5A):c.2431_2435dup (p.Leu813fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38560288:CTCTG:C,SCN5A,VCV003385918,3385918,NM_000335.5(SCN5A):c.4097_4100del (p.Thr1366fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38566505:A:C,SCN5A,VCV003383167,3383167,NM_000335.5(SCN5A):c.3741T>G (p.Tyr1247Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581086:C:A,SCN5A,VCV003381870,3381870,NM_000335.5(SCN5A):c.3073G>T (p.Glu1025Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38606082:A:G,SCN5A,VCV003376929,3376929,NM_000335.5(SCN5A):c.1207T>C (p.Tyr403His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38603774:CT:C,SCN5A,VCV003367173,3367173,NM_000335.5(SCN5A):c.1827del (p.Glu610fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38598975:GC:G,SCN5A,VCV003345326,3345326,NM_000335.5(SCN5A):c.1965del (p.Glu655fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38598917:C:A,SCN5A,VCV003337556,3337556,NM_000335.5(SCN5A):c.2023+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38566583:C:G,SCN5A,VCV003337555,3337555,NM_000335.5(SCN5A):c.3664-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38557236:T:A,SCN5A,VCV003337551,3337551,NM_000335.5(SCN5A):c.4291A>T (p.Arg1431Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38606784:A:AG,SCN5A,VCV003316598,3316598,NM_000335.5(SCN5A):c.1024dup (p.Leu342fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38576776:TG:T,SCN5A,VCV003316597,3316597,NM_000335.5(SCN5A):c.3392del (p.Pro1131fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38585883:G:C,SCN5A,VCV003316593,3316593,NM_000335.5(SCN5A):c.2595C>G (p.Tyr865Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38620967:TG:T,SCN5A,VCV003252620,3252620,NM_000335.5(SCN5A):c.486del (p.Glu161_Tyr162insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38587409:GGA:G,SCN5A,VCV003252218,3252218,NM_000335.5(SCN5A):c.2425_2426del (p.Ser809fs),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38575395:CCTTCCCTGGG:C,SCN5A,VCV003251141,3251141,NM_000335.5(SCN5A):c.3555_3564del (p.Pro1186fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38613752:CTG:C,SCN5A,VCV003251122,3251122,NM_000335.5(SCN5A):c.692_693del (p.Ser231fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38598963:G:A,SCN5A,VCV003248566,3248566,NM_000335.5(SCN5A):c.1978C>T (p.Gln660Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38604050:TC:T,SCN5A,VCV003238947,3238947,NM_000335.5(SCN5A):c.1551del (p.Thr518fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38585930:CGAT:C,SCN5A,VCV003236392,3236392,NM_000335.5(SCN5A):c.2542ATC[1] (p.Ile849del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38599037:T:TC,SCN5A,VCV003229479,3229479,NM_000335.5(SCN5A):c.1903dup (p.Glu635fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581204:CA:C,SCN5A,VCV003076028,3076028,NM_000335.5(SCN5A):c.2954del (p.Leu985fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581186:CTT:C,SCN5A,VCV003075937,3075937,NM_000335.5(SCN5A):c.2971_2972del (p.Lys991fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38550979:C:T,SCN5A,VCV003075757,3075757,NM_000335.5(SCN5A):c.5390G>A (p.Trp1797Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38556481:AT:A,SCN5A,VCV003075755,3075755,NM_000335.5(SCN5A):c.4393del (p.Ile1465fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38580951:C:A,SCN5A,VCV003075752,3075752,NM_000335.5(SCN5A):c.3208G>T (p.Glu1070Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38579447:TG:T,SCN5A,VCV003074416,3074416,NM_000335.5(SCN5A):c.3273del (p.Arg1092fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38597824:T:TG,SCN5A,VCV003073663,3073663,NM_000335.5(SCN5A):c.2166dup (p.Ile723fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38603902:AG:A,SCN5A,VCV003073053,3073053,NM_000335.5(SCN5A):c.1699del (p.Leu567fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38554469:AT:A,SCN5A,VCV003071701,3071701,NM_000335.5(SCN5A):c.4619del (p.Asn1540fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38560421:A:C,SCN5A,VCV003067128,3067128,NM_000335.5(SCN5A):c.3968T>G (p.Val1323Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38556461:A:T,SCN5A,VCV003062283,3062283,NM_000335.5(SCN5A):c.4414T>A (p.Phe1472Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38603710:A:C,SCN5A,VCV003027437,3027437,NM_000335.5(SCN5A):c.1890+2T>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38606054:AC:A,SCN5A,VCV003024479,3024479,NM_000335.5(SCN5A):c.1234del (p.Val412fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581031:TC:T,SCN5A,VCV003001404,3001404,NM_000335.5(SCN5A):c.3127del (p.Glu1043fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38606764:CG:C,SCN5A,VCV002910170,2910170,NM_000335.5(SCN5A):c.1044del (p.Asp349fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38630309:A:C,SCN5A,VCV002862415,2862415,NM_000335.5(SCN5A):c.392+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581134:A:AG,SCN5A,VCV002861983,2861983,NM_000335.5(SCN5A):c.3024dup (p.Tyr1009fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38579367:C:T,SCN5A,VCV002850091,2850091,NM_000335.5(SCN5A):c.3354G>A (p.Trp1118Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581152:TG:T,SCN5A,VCV002846167,2846167,NM_000335.5(SCN5A):c.3006del (p.Ser1003fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38550951:C:CT,SCN5A,VCV002834047,2834047,NM_000335.5(SCN5A):c.5417dup (p.Phe1807fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38586042:C:G,SCN5A,VCV002831276,2831276,NM_000335.5(SCN5A):c.2437-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38622423:AG:A,SCN5A,VCV002829409,2829409,NM_000335.5(SCN5A):c.458del (p.Pro153fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38551299:CAT:C,SCN5A,VCV002820677,2820677,NM_000335.5(SCN5A):c.5068_5069del (p.Met1690fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38566552:T:A,SCN5A,VCV002818735,2818735,NM_000335.5(SCN5A):c.3694A>T (p.Lys1232Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38555657:A:AG,SCN5A,VCV002817837,2817837,NM_000335.5(SCN5A):c.4537dup (p.Leu1513fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38587499:CT:C,SCN5A,VCV002798618,2798618,NM_000335.5(SCN5A):c.2336del (p.Gln779fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38604785:C:A,SCN5A,VCV002774482,2774482,NM_000335.5(SCN5A):c.1462G>T (p.Glu488Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38604761:TGGGG:CAGA,SCN5A,VCV002774480,2774480,NM_000335.5(SCN5A):c.1482_1486delinsTCTG (p.Pro495fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581002:C:A,SCN5A,VCV002774462,2774462,NM_000335.5(SCN5A):c.3157G>T (p.Glu1053Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38576660:C:A,SCN5A,VCV002774456,2774456,NM_000335.5(SCN5A):c.3508+1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38556549:GT:G,SCN5A,VCV002774447,2774447,NM_000335.5(SCN5A):c.4325del (p.Asn1442fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581271:AG:A,SCN5A,VCV002767841,2767841,NM_000335.5(SCN5A):c.2887del (p.Leu963fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38622407:AC:A,SCN5A,VCV002767035,2767035,NM_000335.5(SCN5A):c.474del (p.Lys158fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38585881:G:T,SCN5A,VCV002764562,2764562,NM_000335.5(SCN5A):c.2597C>A (p.Ser866Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38576660:C:G,SCN5A,VCV002764009,2764009,NM_000335.5(SCN5A):c.3508+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38606062:CAG:C,SCN5A,VCV002754673,2754673,NM_000335.5(SCN5A):c.1225_1226del (p.Leu409fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38554540:G:A,SCN5A,VCV002750658,2750658,NM_000335.5(SCN5A):c.4549C>T (p.Gln1517Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38576675:TC:T,SCN5A,VCV002749678,2749678,NM_000335.5(SCN5A):c.3493del (p.Asp1165fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38566430:C:T,SCN5A,VCV002739542,2739542,NM_000335.5(SCN5A):c.3816G>A (p.Trp1272Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581041:CG:C,SCN5A,VCV002733575,2733575,NM_000335.5(SCN5A):c.3117del (p.Asp1041fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38609952:A:G,SCN5A,VCV002728351,2728351,NM_000335.5(SCN5A):c.716T>C (p.Ile239Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38606750:G:GGTGTAGCC,SCN5A,VCV002719420,2719420,NM_000335.5(SCN5A):c.1051_1058dup (p.Ser354fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38551073:AC:A,SCN5A,VCV002713386,2713386,NM_000335.5(SCN5A):c.5295del (p.Met1765fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38557256:A:AT,SCN5A,VCV002708294,2708294,NM_000335.5(SCN5A):c.4270dup (p.Met1424fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38566436:C:T,SCN5A,VCV002705691,2705691,NM_000335.5(SCN5A):c.3810G>A (p.Trp1270Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38599043:GGCGT:G,SCN5A,VCV002587163,2587163,NM_000335.5(SCN5A):c.1894_1897del (p.Thr632fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38585801:G:T,SCN5A,VCV002582527,2582527,NM_000335.5(SCN5A):c.2677C>A (p.Arg893Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38620950:G:T,SCN5A,VCV002574114,2574114,NM_000335.5(SCN5A):c.504C>A (p.Tyr168Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38576782:C:G,SCN5A,VCV002574113,2574113,NM_000335.5(SCN5A):c.3388-1G>C,Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38576710:GA:G,SCN5A,VCV002567176,2567176,NM_000335.5(SCN5A):c.3458del (p.Ile1153fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38597909:G:T,SCN5A,VCV002567171,2567171,NM_000335.5(SCN5A):c.2082C>A (p.Tyr694Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38560146:C:A,SCN5A,VCV002567167,2567167,NM_000335.5(SCN5A):c.4242+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38560208:C:T,SCN5A,VCV002506126,2506126,NM_000335.5(SCN5A):c.4181G>A (p.Trp1394Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38620925:G:GA,SCN5A,VCV002505150,2505150,NM_000335.5(SCN5A):c.528dup (p.Leu177fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38585891:T:A,SCN5A,VCV002498925,2498925,NM_000335.5(SCN5A):c.2587A>T (p.Lys863Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38609828:G:T,SCN5A,VCV002444515,2444515,NM_000335.5(SCN5A):c.840C>A (p.Cys280Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38613772:C:G,SCN5A,VCV002203341,2203341,NM_000335.5(SCN5A):c.674G>C (p.Arg225Pro),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38604830:C:A,SCN5A,VCV002203340,2203340,NM_000335.5(SCN5A):c.1417G>T (p.Glu473Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38585996:G:A,SCN5A,VCV002203339,2203339,NM_000335.5(SCN5A):c.2482C>T (p.Leu828Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38585936:TG:T,SCN5A,VCV002203338,2203338,NM_000335.5(SCN5A):c.2541del (p.Ile848fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581358:AAG:A,SCN5A,VCV002203337,2203337,NM_000335.5(SCN5A):c.2799_2800del (p.Phe934fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38554319:C:T,SCN5A,VCV002203335,2203335,NM_000335.5(SCN5A):c.4770G>A (p.Trp1590Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38608215:C:T,SCN5A,VCV002126186,2126186,NM_000335.5(SCN5A):c.935-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38551089:GAGGA:G,SCN5A,VCV002124520,2124520,NM_000335.5(SCN5A):c.5276_5279del (p.Phe1759fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38556446:T:A,SCN5A,VCV002114785,2114785,NM_000335.5(SCN5A):c.4429A>T (p.Lys1477Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38603949:CG:C,SCN5A,VCV002113775,2113775,NM_000335.5(SCN5A):c.1652del (p.Ala551fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38562483:T:TG,SCN5A,VCV002107269,2107269,NM_000335.5(SCN5A):c.3891dup (p.Ile1298fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38598994:A:T,SCN5A,VCV002107170,2107170,NM_000335.5(SCN5A):c.1947T>A (p.Cys649Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38551532:TC:T,SCN5A,VCV002106626,2106626,NM_000335.5(SCN5A):c.4836del (p.Lys1613fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38575375:CT:C,SCN5A,VCV002100770,2100770,NM_000335.5(SCN5A):c.3584del (p.Lys1195fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38551234:C:T,SCN5A,VCV002094285,2094285,NM_000335.5(SCN5A):c.5135G>A (p.Trp1712Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38562539:T:A,SCN5A,VCV002088946,2088946,NM_000335.5(SCN5A):c.3838-2A>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38587511:G:C,SCN5A,VCV002069900,2069900,NM_000335.5(SCN5A):c.2325C>G (p.Tyr775Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38608216:T:C,SCN5A,VCV002057896,2057896,NM_000335.5(SCN5A):c.935-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38606042:TA:T,SCN5A,VCV002039747,2039747,NM_000335.5(SCN5A):c.1246del (p.Tyr416fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38620857:AC:A,SCN5A,VCV002036709,2036709,NM_000335.5(SCN5A):c.596del (p.Ser199fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38605976:ATGGCCTCC:A,SCN5A,VCV002031437,2031437,NM_000335.5(SCN5A):c.1305_1312del (p.Gln435fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38551074:C:G,SCN5A,VCV002027600,2027600,NM_000335.5(SCN5A):c.5295G>C (p.Met1765Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38633101:GC:G,SCN5A,VCV002027105,2027105,NM_000335.5(SCN5A):c.206del (p.Gly69fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38562414:C:A,SCN5A,VCV002026498,2026498,NM_000335.5(SCN5A):c.3960+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38585766:C:T,SCN5A,VCV002016715,2016715,NM_000335.5(SCN5A):c.2712G>A (p.Trp904Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38555656:C:CA,SCN5A,VCV002016359,2016359,NM_000335.5(SCN5A):c.4538dup (p.Asn1514fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38630430:CTGGGGACA:C,SCN5A,VCV002011754,2011754,NM_000335.5(SCN5A):c.274-9_274-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38580930:C:G,SCN5A,VCV001937049,1937049,NM_000335.5(SCN5A):c.3228+1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38633203:G:GC,SCN5A,VCV001803812,1803812,NM_000335.5(SCN5A):c.104dup (p.Ser36fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581161:G:A,SCN5A,VCV001798592,1798592,NM_000335.5(SCN5A):c.2998C>T (p.Gln1000Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581372:CT:C,SCN5A,VCV001795999,1795999,NM_000335.5(SCN5A):c.2788-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38585957:TC:T,SCN5A,VCV001792542,1792542,NM_000335.5(SCN5A):c.2520del (p.Asn841fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38597737:C:G,SCN5A,VCV001788496,1788496,NM_000335.5(SCN5A):c.2254G>C (p.Gly752Arg),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38603923:G:C,SCN5A,VCV001777850,1777850,NM_000335.5(SCN5A):c.1679C>G (p.Ser560Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38604785:C:CCT,SCN5A,VCV001773144,1773144,NM_000335.5(SCN5A):c.1460_1461dup (p.Glu488fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38633214:G:A,SCN5A,VCV001767167,1767167,NM_000335.5(SCN5A):c.94C>T (p.Gln32Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38606058:CG:C,SCN5A,VCV001755450,1755450,NM_000335.5(SCN5A):c.1230del (p.Val411fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38633267:CG:C,SCN5A,VCV001737836,1737836,NM_000335.5(SCN5A):c.40del (p.Arg14fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38566552:TC:T,SCN5A,VCV001733997,1733997,NM_000335.5(SCN5A):c.3693del (p.Lys1232fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38579379:C:T,SCN5A,VCV001730458,1730458,NM_000335.5(SCN5A):c.3342G>A (p.Trp1114Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38579440:C:T,SCN5A,VCV001729777,1729777,NM_000335.5(SCN5A):c.3281G>A (p.Trp1094Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38633133:G:A,SCN5A,VCV001691761,1691761,NM_000335.5(SCN5A):c.175C>T (p.Gln59Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38575310:C:A,SCN5A,VCV001691220,1691220,NM_000335.5(SCN5A):c.3650G>T (p.Ser1217Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581062:G:A,SCN5A,VCV001678156,1678156,NM_000335.5(SCN5A):c.3097C>T (p.Gln1033Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38562426:C:A,SCN5A,VCV001678123,1678123,NM_000335.5(SCN5A):c.3949G>T (p.Glu1317Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38585800:C:A,SCN5A,VCV001527869,1527869,NM_000335.5(SCN5A):c.2678G>T (p.Arg893Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38606150:T:C,SCN5A,VCV001521971,1521971,NM_000335.5(SCN5A):c.1141-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38575295:A:G,SCN5A,VCV001510225,1510225,NM_000335.5(SCN5A):c.3663+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38576782:C:T,SCN5A,VCV001502792,1502792,NM_000335.5(SCN5A):c.3388-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38606667:A:C,SCN5A,VCV001502060,1502060,NM_000335.5(SCN5A):c.1140+2T>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38633040:G:A,SCN5A,VCV001460043,1460043,NM_000335.5(SCN5A):c.268C>T (p.Gln90Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38580984:G:A,SCN5A,VCV001458577,1458577,NM_000335.5(SCN5A):c.3175C>T (p.Gln1059Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38575387:C:T,SCN5A,VCV001458575,1458575,NM_000335.5(SCN5A):c.3573G>A (p.Trp1191Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38622396:TCACTCGACATA:T,SCN5A,VCV001455926,1455926,NM_000335.5(SCN5A):c.475_482+3del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581132:G:T,SCN5A,VCV001455755,1455755,NM_000335.5(SCN5A):c.3027C>A (p.Tyr1009Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38604046:GA:G,SCN5A,VCV001455694,1455694,NM_000335.5(SCN5A):c.1555del (p.Ser519fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38597900:C:T,SCN5A,VCV001454071,1454071,NM_000335.5(SCN5A):c.2091G>A (p.Trp697Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38550922:AAGTC:A,SCN5A,VCV001452285,1452285,NM_000335.5(SCN5A):c.5443_5446del (p.Asp1815fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38556501:GA:G,SCN5A,VCV001451878,1451878,NM_000335.5(SCN5A):c.4373del (p.Phe1458fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38555697:GCTT:G,SCN5A,VCV001449654,1449654,NM_000335.5(SCN5A):c.4492AAG[1] (p.Lys1499del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38556451:TGTTG:T,SCN5A,VCV001434817,1434817,NM_000335.5(SCN5A):c.4420_4423del (p.Gln1474fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38633091:G:A,SCN5A,VCV001408176,1408176,NM_000335.5(SCN5A):c.217C>T (p.Gln73Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38604794:CT:C,SCN5A,VCV001406093,1406093,NM_000335.5(SCN5A):c.1452del (p.Gly485fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581116:CTG:C,SCN5A,VCV001392890,1392890,NM_000335.5(SCN5A):c.3041_3042del (p.Pro1014fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38585944:A:AC,SCN5A,VCV001386100,1386100,NM_000335.5(SCN5A):c.2533dup (p.Val845fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38620876:C:T,SCN5A,VCV001374462,1374462,NM_000335.5(SCN5A):c.578G>A (p.Trp193Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38604012:GA:G,SCN5A,VCV001361908,1361908,NM_000335.5(SCN5A):c.1589del (p.Phe530fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38606811:C:T,SCN5A,VCV001348900,1348900,NM_000335.5(SCN5A):c.999-1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38613742:C:G,SCN5A,VCV001345786,1345786,NM_000335.5(SCN5A):c.703+1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38554274:C:T,SCN5A,VCV001326912,1326912,NM_000335.5(SCN5A):c.4810+5G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38608217:G:C,SCN5A,VCV001326908,1326908,NM_000335.5(SCN5A):c.935-3C>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38566425:T:C,SCN5A,VCV001326907,1326907,NM_000335.5(SCN5A):c.3821A>G (p.Asp1274Gly),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38556561:C:CT,SCN5A,VCV001299249,1299249,NM_000335.5(SCN5A):c.4313dup (p.Trp1439fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38587515:TA:T,SCN5A,VCV001285130,1285130,NM_000335.5(SCN5A):c.2320del (p.Tyr774fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38551459:C:A,SCN5A,VCV001188516,1188516,NM_000335.5(SCN5A):c.4910G>T (p.Arg1637Leu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38597761:C:A,SCN5A,VCV001187556,1187556,NM_000335.5(SCN5A):c.2230G>T (p.Glu744Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38566483:GC:G,SCN5A,VCV001185878,1185878,NM_000335.5(SCN5A):c.3762del (p.Leu1255fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38609855:G:GAGCT,SCN5A,VCV001184975,1184975,NM_000335.5(SCN5A):c.809_812dup (p.Phe272fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581004:GC:G,SCN5A,VCV001076640,1076640,NM_000335.5(SCN5A):c.3154del (p.Ala1052fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38576775:C:A,SCN5A,VCV001076635,1076635,NM_000335.5(SCN5A):c.3394G>T (p.Glu1132Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38566487:CA:C,SCN5A,VCV001076515,1076515,NM_000335.5(SCN5A):c.3758del (p.Met1253fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38609766:CA:C,SCN5A,VCV001076513,1076513,NM_000335.5(SCN5A):c.901del (p.Trp301fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38551532:T:A,SCN5A,VCV001075437,1075437,NM_000335.5(SCN5A):c.4837A>T (p.Lys1613Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38560303:GC:G,SCN5A,VCV001073809,1073809,NM_000335.5(SCN5A):c.4085del (p.Cys1362fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38556554:A:AT,SCN5A,VCV001073629,1073629,NM_000335.5(SCN5A):c.4320dup (p.Tyr1441fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38585860:G:C,SCN5A,VCV001072446,1072446,NM_000335.5(SCN5A):c.2618C>G (p.Ser873Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38630368:T:TA,SCN5A,VCV001071777,1071777,NM_000335.5(SCN5A):c.334dup (p.Tyr112fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581107:T:A,SCN5A,VCV001069115,1069115,NM_000335.5(SCN5A):c.3052A>T (p.Lys1018Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38557230:C:A,SCN5A,VCV001068181,1068181,NM_000335.5(SCN5A):c.4296+1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38597968:C:T,SCN5A,VCV001067586,1067586,NM_000335.5(SCN5A):c.2024-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38560428:C:A,SCN5A,VCV001066010,1066010,NM_000335.5(SCN5A):c.3961G>T (p.Val1321Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38557232:CCCCTGGAGTCCACAGCTGCATACATAATGT:C,SCN5A,VCV001012143,1012143,NM_000335.5(SCN5A):c.4265_4294del (p.Asp1422_Arg1431del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38633253:C:A,SCN5A,VCV000988404,988404,NM_000335.5(SCN5A):c.55G>T (p.Glu19Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38554550:C:A,SCN5A,VCV000987436,987436,NM_000335.5(SCN5A):c.4540-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38613835:C:T,SCN5A,VCV000984516,984516,NM_000335.5(SCN5A):c.612-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38550925:TCAGA:T,SCN5A,VCV000984492,984492,NM_000335.5(SCN5A):c.5440_5443del (p.Ser1814fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38585689:A:T,SCN5A,VCV000979203,979203,NM_000335.5(SCN5A):c.2787+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38587500:TG:T,SCN5A,VCV000979075,979075,NM_000335.5(SCN5A):c.2335del (p.Gln779fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38585996:G:C,SCN5A,VCV000978725,978725,NM_000335.5(SCN5A):c.2482C>G (p.Leu828Val),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38606091:C:A,SCN5A,VCV000972696,972696,NM_000335.5(SCN5A):c.1198G>T (p.Gly400Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38598978:C:A,SCN5A,VCV000972691,972691,NM_000335.5(SCN5A):c.1963G>T (p.Glu655Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38585901:CT:C,SCN5A,VCV000970218,970218,NM_000335.5(SCN5A):c.2576del (p.Gln859fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581298:CT:C,SCN5A,VCV000961103,961103,NM_000335.5(SCN5A):c.2860del (p.Arg954fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38633176:CT:C,SCN5A,VCV000956404,956404,NM_000335.5(SCN5A):c.131del (p.Glu44fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38560264:G:GGT,SCN5A,VCV000952177,952177,NM_000335.5(SCN5A):c.4123_4124dup (p.Ile1376fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581117:T:TGGGGGTGGCGGGGAGTA,SCN5A,VCV000944678,944678,NM_000335.5(SCN5A):c.3025_3041dup (p.Glu1015fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38620865:C:G,SCN5A,VCV000942054,942054,NM_000335.5(SCN5A):c.589G>C (p.Asp197His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581343:A:G,SCN5A,VCV000940929,940929,NM_000335.5(SCN5A):c.2816T>C (p.Leu939Pro),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38613743:CT:C,SCN5A,VCV000937538,937538,NM_000335.5(SCN5A):c.702del (p.Gly235_Leu236insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38606062:C:CTATG,SCN5A,VCV000936474,936474,NM_000335.5(SCN5A):c.1226_1227insCATA (p.Ala410fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38633118:GC:G,SCN5A,VCV000928434,928434,NM_000335.5(SCN5A):c.189del (p.Lys63fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38551050:GT:G,SCN5A,VCV000927104,927104,NM_000335.5(SCN5A):c.5318del (p.Asn1773fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38562413:A:ACCCTCATG,SCN5A,VCV000927012,927012,NM_000335.5(SCN5A):c.3954_3960+1dup,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38562476:GA:G,SCN5A,VCV000917995,917995,NM_000335.5(SCN5A):c.3898del (p.Ser1300fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38585735:AT:A,SCN5A,VCV000863801,863801,NM_000335.5(SCN5A):c.2742del (p.Leu914fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38562529:CAG:C,SCN5A,VCV000858385,858385,NM_000335.5(SCN5A):c.3844_3845del (p.Leu1282fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38550877:TG:T,SCN5A,VCV000856890,856890,NM_000335.5(SCN5A):c.5491del (p.Gln1831fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38550990:GA:G,SCN5A,VCV000853346,853346,NM_000335.5(SCN5A):c.5378del (p.Phe1793fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38620877:AT:A,SCN5A,VCV000851951,851951,NM_000335.5(SCN5A):c.576del (p.Trp193fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38587575:T:C,SCN5A,VCV000851217,851217,NM_000335.5(SCN5A):c.2263-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38622405:A:C,SCN5A,VCV000850294,850294,NM_000335.5(SCN5A):c.477T>G (p.Tyr159Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38633190:G:A,SCN5A,VCV000848941,848941,NM_000335.5(SCN5A):c.118C>T (p.Gln40Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38560209:AG:A,SCN5A,VCV000848007,848007,NM_000335.5(SCN5A):c.4179del (p.Trp1394fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38575452:C:T,SCN5A,VCV000847226,847226,NM_000335.5(SCN5A):c.3509-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581258:CT:C,SCN5A,VCV000845474,845474,NM_000335.5(SCN5A):c.2900del (p.Gln967fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38606705:CA:C,SCN5A,VCV000844438,844438,NM_000335.5(SCN5A):c.1103del (p.Leu368fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38554381:A:G,SCN5A,VCV000830371,830371,NM_000335.5(SCN5A):c.4708T>C (p.Phe1570Leu),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,exact_match_without_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38562436:CAG:C,SCN5A,VCV000817608,817608,NM_000335.5(SCN5A):c.3937_3938del (p.Leu1313fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38603945:C:A,SCN5A,VCV000811838,811838,NM_000335.5(SCN5A):c.1657G>T (p.Glu553Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38576715:G:A,SCN5A,VCV000801959,801959,NM_000335.5(SCN5A):c.3454C>T (p.Gln1152Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38554372:C:A,SCN5A,VCV000691966,691966,NM_000335.5(SCN5A):c.4717G>T (p.Glu1573Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38557229:A:AC,SCN5A,VCV000691705,691705,NM_000335.5(SCN5A):c.4296+1dup,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38551515:CG:C,SCN5A,VCV000689494,689494,NM_000335.5(SCN5A):c.4853del (p.Pro1618fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38557286:T:C,SCN5A,VCV000667016,667016,NM_000335.5(SCN5A):c.4243-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38575390:C:T,SCN5A,VCV000660776,660776,NM_000335.5(SCN5A):c.3570G>A (p.Trp1190Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38587537:T:TG,SCN5A,VCV000654856,654856,NM_000335.5(SCN5A):c.2298dup (p.Lys767fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38606674:G:A,SCN5A,VCV000641344,641344,NM_000335.5(SCN5A):c.1135C>T (p.Gln379Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38555735:G:T,SCN5A,VCV000637991,637991,NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38606743:C:A,SCN5A,VCV000637989,637989,NM_000335.5(SCN5A):c.1066G>T (p.Asp356Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581213:A:T,SCN5A,VCV000633410,633410,NM_000335.5(SCN5A):c.2946T>A (p.Cys982Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38566565:G:C,SCN5A,VCV000632980,632980,NM_000335.5(SCN5A):c.3681C>G (p.Tyr1227Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38556566:G:A,SCN5A,VCV000598785,598785,NM_000335.5(SCN5A):c.4309C>T (p.Pro1437Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38622447:G:T,SCN5A,VCV000598784,598784,NM_000335.5(SCN5A):c.435C>A (p.Cys145Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38550986:C:A,SCN5A,VCV000583354,583354,NM_000335.5(SCN5A):c.5383G>T (p.Glu1795Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38554434:CT:C,SCN5A,VCV000582177,582177,NM_000335.5(SCN5A):c.4654del (p.Ser1552fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38555665:T:TGGG,SCN5A,VCV000581866,581866,NM_000335.5(SCN5A):c.4527_4529dup (p.Pro1510dup),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38550986:CAT:C,SCN5A,VCV000579734,579734,NM_000335.5(SCN5A):c.5381_5382del (p.Phe1793_Tyr1794insTer),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38550773:C:A,SCN5A,VCV000572957,572957,NM_000335.5(SCN5A):c.5596G>T (p.Glu1866Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38551007:CCTCA:C,SCN5A,VCV000572252,572252,NM_000335.5(SCN5A):c.5358_5361del (p.Ser1786fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38609920:G:C,SCN5A,VCV000572011,572011,NM_000335.5(SCN5A):c.748C>G (p.Leu250Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38551093:A:C,SCN5A,VCV000571408,571408,NM_000335.5(SCN5A):c.5276T>G (p.Phe1759Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38555727:G:A,SCN5A,VCV000560692,560692,NM_000335.5(SCN5A):c.4468C>T (p.Gln1490Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38603988:AC:A,SCN5A,VCV000523568,523568,NM_000335.5(SCN5A):c.1613del (p.Gly538fs),Pathogenic/Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581191:G:A,SCN5A,VCV000520461,520461,NM_000335.5(SCN5A):c.2968C>T (p.Gln990Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38566437:C:T,SCN5A,VCV000519554,519554,NM_000335.5(SCN5A):c.3809G>A (p.Trp1270Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38579461:GC:G,SCN5A,VCV000519464,519464,NM_000335.5(SCN5A):c.3259del (p.Ala1087fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38598917:C:T,SCN5A,VCV000519460,519460,NM_000335.5(SCN5A):c.2023+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38556493:AG:A,SCN5A,VCV000519429,519429,NM_000335.5(SCN5A):c.4381del (p.Thr1460_Leu1461insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38551074:C:T,SCN5A,VCV000519384,519384,NM_000335.5(SCN5A):c.5295G>A (p.Met1765Ile),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38586012:C:T,SCN5A,VCV000505895,505895,NM_000335.5(SCN5A):c.2466G>A (p.Trp822Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38609966:T:C,SCN5A,VCV000505834,505834,NM_000335.5(SCN5A):c.704-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38575452:C:G,SCN5A,VCV000496573,496573,NM_000335.5(SCN5A):c.3509-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38562501:AG:A,SCN5A,VCV000463332,463332,NM_000335.5(SCN5A):c.3873del (p.Phe1292fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581077:AC:A,SCN5A,VCV000463318,463318,NM_000335.5(SCN5A):c.3081del (p.Phe1028fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38633104:A:T,SCN5A,VCV000463308,463308,NM_000335.5(SCN5A):c.204T>A (p.Tyr68Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38606688:C:T,SCN5A,VCV000463292,463292,NM_000335.5(SCN5A):c.1121G>A (p.Trp374Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38550909:CAG:C,SCN5A,VCV000452184,452184,NM_000335.5(SCN5A):c.5458_5459del (p.Leu1820fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38622414:C:T,SCN5A,VCV000448976,448976,NM_000335.5(SCN5A):c.468G>A (p.Trp156Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38551076:T:A,SCN5A,VCV000446418,446418,NM_000335.5(SCN5A):c.5293A>T (p.Met1765Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38560392:TGGACG:T,SCN5A,VCV000432733,432733,NM_000335.5(SCN5A):c.3992_3996del (p.Pro1331fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38622491:T:C,SCN5A,VCV000432148,432148,NM_000335.5(SCN5A):c.393-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38560245:G:A,SCN5A,VCV000431948,431948,NM_000335.5(SCN5A):c.4144C>T (p.Gln1382Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38633204:CCG:C,SCN5A,VCV000429979,429979,NM_000335.5(SCN5A):c.102_103del (p.Gly35fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38551289:G:A,SCN5A,VCV000426612,426612,NM_000335.5(SCN5A):c.5080C>T (p.Gln1694Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38551181:TG:T,SCN5A,VCV000426254,426254,NM_000335.5(SCN5A):c.5187del (p.Thr1730fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38560197:TC:T,SCN5A,VCV000423108,423108,NM_000335.5(SCN5A):c.4191del (p.Val1399fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38579476:GA:G,SCN5A,VCV000422443,422443,NM_000335.5(SCN5A):c.3244del (p.Ser1082fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38599020:G:A,SCN5A,VCV000421358,421358,NM_000335.5(SCN5A):c.1921C>T (p.Gln641Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38550838:C:CCACT,SCN5A,VCV000420342,420342,NM_000335.5(SCN5A):c.5527_5530dup (p.Gly1844fs),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38587501:G:GTTGGAAA,SCN5A,VCV000419109,419109,NM_000335.5(SCN5A):c.2334_2335insTTTCCAA (p.Gln779fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38550944:C:A,SCN5A,VCV000406440,406440,NM_000335.5(SCN5A):c.5425G>T (p.Glu1809Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38633203:GC:G,SCN5A,VCV000406435,406435,NM_000335.5(SCN5A):c.104del (p.Gly35fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38579439:C:T,SCN5A,VCV000406434,406434,NM_000335.5(SCN5A):c.3282G>A (p.Trp1094Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38609764:C:A,SCN5A,VCV000406427,406427,NM_000335.5(SCN5A):c.904G>T (p.Glu302Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581226:C:T,SCN5A,VCV000406426,406426,NM_000335.5(SCN5A):c.2933G>A (p.Trp978Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38581136:GGGGTGGCAATGCA:G,SCN5A,VCV000406419,406419,NM_000335.5(SCN5A):c.3010_3022del (p.Cys1004fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38550782:C:A,SCN5A,VCV000406418,406418,NM_000335.5(SCN5A):c.5587G>T (p.Glu1863Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38550951:CTGAG:C,SCN5A,VCV000406415,406415,NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38585842:C:T,SCN5A,VCV000406396,406396,NM_000335.5(SCN5A):c.2636G>A (p.Trp879Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38597804:GAGT:G,SCN5A,VCV000403732,403732,NM_000335.5(SCN5A):c.2184_2186del (p.Leu729del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38633034:C:T,SCN5A,VCV000392337,392337,NM_000335.5(SCN5A):c.273+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38551459:C:G,SCN5A,VCV000389150,389150,NM_000335.5(SCN5A):c.4910G>C (p.Arg1637Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-3:38606034:G:A,SCN5A,VCV000374130,374130,NM_000335.5(SCN5A):c.1255C>T (p.Gln419Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-21:34449542:GGCCAGGCCCGACATGTT:G,KCNE1,VCV004724223,4724223,NM_000219.6(KCNE1):c.76_92del (p.Asn26fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False
-21:34449512:CT:C,KCNE1,VCV003601178,3601178,NM_000219.6(KCNE1):c.122del (p.Lys41fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False
-21:34449404:TG:T,KCNE1,VCV001415503,1415503,NM_000219.6(KCNE1):c.230del (p.Pro77fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False
-21:34449611:C:CGCTG,KCNE1,VCV001343372,1343372,NM_000219.6(KCNE1):c.20_23dup (p.Val9fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.4166666666666667,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False
-21:34449634:T:A,KCNE1,VCV001065921,1065921,NM_000219.6(KCNE1):c.1A>T (p.Met1Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False
-21:34449540:C:CG,KCNE1,VCV000812588,812588,NM_000219.6(KCNE1):c.94dup (p.Arg32fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False
-21:34449367:T:A,KCNE1,VCV000620398,620398,NM_000219.6(KCNE1):c.268A>T (p.Lys90Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False
-21:34449429:TTGGA:T,KCNE1,VCV000527017,527017,NM_000219.6(KCNE1):c.202_205del (p.Ser68fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False
-21:34449406:GGT:TAGA,KCNE1,VCV000441101,441101,NM_000219.6(KCNE1):c.227_229delinsTCTA (p.Asp76fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.4166666666666667,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False
-1:237784024:C:A,RYR2,VCV004814200,4814200,NM_001035.3(RYR2):c.12312C>A (p.Asn4104Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237808911:C:T,RYR2,VCV004800130,4800130,NM_001035.3(RYR2):c.14309C>T (p.Thr4770Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237784290:G:T,RYR2,VCV004800118,4800118,NM_001035.3(RYR2):c.12578G>T (p.Cys4193Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237783729:C:T,RYR2,VCV004800115,4800115,NM_001035.3(RYR2):c.12017C>T (p.Ser4006Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237707057:A:G,RYR2,VCV004800104,4800104,NM_001035.3(RYR2):c.9689A>G (p.Gln3230Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237633707:C:A,RYR2,VCV004800083,4800083,NM_001035.3(RYR2):c.6685C>A (p.Leu2229Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237778718:C:A,RYR2,VCV004697937,4697937,NM_001035.3(RYR2):c.11828C>A (p.Ala3943Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237778727:G:T,RYR2,VCV004614849,4614849,NM_001035.3(RYR2):c.11837G>T (p.Gly3946Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237441455:CCGTGAGAATGGGATCTATACAACGTAAGGTAAGGTGATAGAAAAAAACATAATTTATAGAAGTAATTTTTTATGAATACACAAGCACAAG:C,RYR2,VCV004542511,4542511,NM_001035.3(RYR2):c.1143_1170+62del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237784242:T:G,RYR2,VCV004537880,4537880,NM_001035.3(RYR2):c.12530T>G (p.Val4177Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237783938:G:A,RYR2,VCV004531406,4531406,NM_001035.3(RYR2):c.12226G>A (p.Glu4076Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237441383:G:T,RYR2,VCV004291726,4291726,NM_001035.3(RYR2):c.1070G>T (p.Gly357Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237387326:C:T,RYR2,VCV004071994,4071994,NM_001035.3(RYR2):c.622C>T (p.Gln208Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237793907:G:T,RYR2,VCV003949071,3949071,NM_001035.3(RYR2):c.13823G>T (p.Arg4608Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237441275:TTTTTGAAATGTTTACTGACCTTTTTTTCCTCCTCTCCCCTTAGGA:ATTTTG,RYR2,VCV003901845,3901845,NM_001035.3(RYR2):c.1006-44_1007delinsATTTTG,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237819130:G:T,RYR2,VCV003895065,3895065,NM_001035.3(RYR2):c.14528G>T (p.Arg4843Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237801912:A:G,RYR2,VCV003894941,3894941,NM_001035.3(RYR2):c.14147A>G (p.Asp4716Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237648501:C:T,RYR2,VCV003894655,3894655,NM_001035.3(RYR2):c.7400C>T (p.Ala2467Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237377353:C:A,RYR2,VCV003776659,3776659,NM_001035.3(RYR2):c.494C>A (p.Ala165Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237783971:T:C,RYR2,VCV003766443,3766443,NM_001035.3(RYR2):c.12259T>C (p.Phe4087Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237798092:G:A,RYR2,VCV003633845,3633845,NM_001035.3(RYR2):c.14012G>A (p.Gly4671Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237784143:G:T,RYR2,VCV003633837,3633837,NM_001035.3(RYR2):c.12431G>T (p.Arg4144Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237639059:A:G,RYR2,VCV003633806,3633806,NM_001035.3(RYR2):c.6973A>G (p.Ile2325Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237784233:T:C,RYR2,VCV003572967,3572967,NM_001035.3(RYR2):c.12521T>C (p.Phe4174Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237640950:C:T,RYR2,VCV003544417,3544417,NM_001035.3(RYR2):c.7169C>T (p.Thr2390Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237638457:A:G,RYR2,VCV003544409,3544409,NM_001035.3(RYR2):c.6893A>G (p.Tyr2298Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237778684:C:G,RYR2,VCV003391121,3391121,NM_001035.3(RYR2):c.11794C>G (p.Gln3932Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237808910:A:G,RYR2,VCV003383138,3383138,NM_001035.3(RYR2):c.14308A>G (p.Thr4770Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237727196:C:T,RYR2,VCV003382069,3382069,NM_001035.3(RYR2):c.10835C>T (p.Pro3612Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237640956:A:T,RYR2,VCV003338338,3338338,NM_001035.3(RYR2):c.7175A>T (p.Tyr2392Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237806143:C:T,RYR2,VCV003337537,3337537,NM_001035.3(RYR2):c.14158C>T (p.Leu4720Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237708886:GAAAC:G,RYR2,VCV003065287,3065287,NM_001035.3(RYR2):c.9931_9934del (p.Lys3311fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237819075:G:A,RYR2,VCV002920176,2920176,NM_001035.3(RYR2):c.14473G>A (p.Gly4825Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237638437:C:A,RYR2,VCV002883988,2883988,NM_001035.3(RYR2):c.6873C>A (p.Asn2291Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237643382:T:G,RYR2,VCV002865610,2865610,NM_001035.3(RYR2):c.7277T>G (p.Leu2426Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237638462:G:C,RYR2,VCV002840453,2840453,NM_001035.3(RYR2):c.6898G>C (p.Asp2300His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237445429:A:G,RYR2,VCV002806184,2806184,NM_001035.3(RYR2):c.1199A>G (p.Asp400Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237793882:T:A,RYR2,VCV002758112,2758112,NM_001035.3(RYR2):c.13798T>A (p.Phe4600Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237784223:C:G,RYR2,VCV002747580,2747580,NM_001035.3(RYR2):c.12511C>G (p.Gln4171Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237648521:A:G,RYR2,VCV002734117,2734117,NM_001035.3(RYR2):c.7420A>G (p.Arg2474Gly),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237783984:C:G,RYR2,VCV002727021,2727021,NM_001035.3(RYR2):c.12272C>G (p.Ala4091Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237832640:T:C,RYR2,VCV002719667,2719667,NM_001035.3(RYR2):c.14897T>C (p.Leu4966Pro),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237377426:A:C,RYR2,VCV002707246,2707246,NM_001035.3(RYR2):c.567A>C (p.Glu189Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237784131:G:C,RYR2,VCV002587823,2587823,NM_001035.3(RYR2):c.12419G>C (p.Gly4140Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237638403:T:C,RYR2,VCV002575972,2575972,NM_001035.3(RYR2):c.6839T>C (p.Leu2280Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237806282:A:C,RYR2,VCV002500749,2500749,NM_001035.3(RYR2):c.14297A>C (p.Gln4766Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237778695:G:C,RYR2,VCV002441802,2441802,NM_001035.3(RYR2):c.11805G>C (p.Leu3935Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237784307:G:C,RYR2,VCV002435632,2435632,NM_001035.3(RYR2):c.12595G>C (p.Glu4199Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237783728:T:A,RYR2,VCV002433112,2433112,NM_001035.3(RYR2):c.12016T>A (p.Ser4006Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237377349:C:T,RYR2,VCV002203006,2203006,NM_001035.3(RYR2):c.490C>T (p.Pro164Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237784187:C:A,RYR2,VCV002169498,2169498,NM_001035.3(RYR2):c.12475C>A (p.Gln4159Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237633624:G:A,RYR2,VCV002151921,2151921,NM_001035.3(RYR2):c.6602G>A (p.Cys2201Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237808913:G:T,RYR2,VCV002125455,2125455,NM_001035.3(RYR2):c.14311G>T (p.Val4771Phe),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237783980:C:G,RYR2,VCV002120716,2120716,NM_001035.3(RYR2):c.12268C>G (p.Pro4090Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237643361:T:C,RYR2,VCV002105630,2105630,NM_001035.3(RYR2):c.7256T>C (p.Ile2419Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237638480:G:T,RYR2,VCV002101383,2101383,NM_001035.3(RYR2):c.6916G>T (p.Val2306Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237445429:A:C,RYR2,VCV002075220,2075220,NM_001035.3(RYR2):c.1199A>C (p.Asp400Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237633654:A:C,RYR2,VCV002018903,2018903,NM_001035.3(RYR2):c.6632A>C (p.Gln2211Pro),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237784233:T:A,RYR2,VCV001997174,1997174,NM_001035.3(RYR2):c.12521T>A (p.Phe4174Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237784034:C:T,RYR2,VCV001932217,1932217,NM_001035.3(RYR2):c.12322C>T (p.His4108Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237445474:C:T,RYR2,VCV001805497,1805497,NM_001035.3(RYR2):c.1244C>T (p.Thr415Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237270587:T:C,RYR2,VCV001805396,1805396,NM_001035.3(RYR2):c.139T>C (p.Cys47Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237832604:C:G,RYR2,VCV001773663,1773663,NM_001035.3(RYR2):c.14861C>G (p.Ala4954Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237377364:C:G,RYR2,VCV001745086,1745086,NM_001035.3(RYR2):c.505C>G (p.Arg169Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237723201:A:ATCCAGAGAAGACGGTAGAAAGAG,RYR2,VCV001710227,1710227,NM_001035.3(RYR2):c.10630_10652dup (p.Val3551_Leu3552insGlnArgArgArgTer),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237798100:A:G,RYR2,VCV001693182,1693182,NM_001035.3(RYR2):c.14020A>G (p.Lys4674Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237830611:C:T,RYR2,VCV001527876,1527876,NM_001035.3(RYR2):c.14737C>T (p.His4913Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237634949:A:T,RYR2,VCV001527868,1527868,NM_001035.3(RYR2):c.6749A>T (p.Asn2250Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237445402:C:A,RYR2,VCV001524904,1524904,NM_001035.3(RYR2):c.1172C>A (p.Ala391Asp),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237633669:A:G,RYR2,VCV001499030,1499030,NM_001035.3(RYR2):c.6647A>G (p.Asp2216Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237757772:A:G,RYR2,VCV001496297,1496297,NM_001035.3(RYR2):c.11321A>G (p.Gln3774Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237806211:C:A,RYR2,VCV001480185,1480185,NM_001035.3(RYR2):c.14226C>A (p.His4742Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237830584:G:A,RYR2,VCV001479669,1479669,NM_001035.3(RYR2):c.14710G>A (p.Gly4904Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237781643:G:C,RYR2,VCV001474443,1474443,NM_001035.3(RYR2):c.11959G>C (p.Glu3987Gln),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237784315:G:T,RYR2,VCV001472640,1472640,NM_001035.3(RYR2):c.12603G>T (p.Gln4201His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237806237:A:T,RYR2,VCV001467901,1467901,NM_001035.3(RYR2):c.14252A>T (p.Lys4751Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237640994:G:A,RYR2,VCV001451617,1451617,NM_001035.3(RYR2):c.7213G>A (p.Glu2405Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237793882:T:C,RYR2,VCV001441921,1441921,NM_001035.3(RYR2):c.13798T>C (p.Phe4600Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237784158:A:G,RYR2,VCV001441891,1441891,NM_001035.3(RYR2):c.12446A>G (p.Tyr4149Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237784176:C:A,RYR2,VCV001410932,1410932,NM_001035.3(RYR2):c.12464C>A (p.Ser4155Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237638464:C:G,RYR2,VCV001384586,1384586,NM_001035.3(RYR2):c.6900C>G (p.Asp2300Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237649944:T:G,RYR2,VCV001383749,1383749,NM_001035.3(RYR2):c.7580T>G (p.Leu2527Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237793920:T:G,RYR2,VCV001363823,1363823,NM_001035.3(RYR2):c.13836T>G (p.Phe4612Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237760996:A:G,RYR2,VCV001346560,1346560,NM_001035.3(RYR2):c.11444A>G (p.Glu3815Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237441339:GAGAAA:G,RYR2,VCV001342890,1342890,NM_001035.3(RYR2):c.1031_1035del (p.Lys344fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237469125:C:T,RYR2,VCV001330215,1330215,NM_001035.3(RYR2):c.1646C>T (p.Ala549Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237772037:G:C,RYR2,VCV001213111,1213111,NM_001035.3(RYR2):c.11583G>C (p.Gln3861His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237784299:C:T,RYR2,VCV001119951,1119951,NM_001035.3(RYR2):c.12587C>T (p.Thr4196Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237783695:A:C,RYR2,VCV001119950,1119950,NM_001035.3(RYR2):c.11983A>C (p.Ile3995Leu),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237377373:G:A,RYR2,VCV001072928,1072928,NM_001035.3(RYR2):c.514G>A (p.Gly172Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237648522:G:A,RYR2,VCV001072597,1072597,NM_001035.3(RYR2):c.7421G>A (p.Arg2474Lys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237783981:C:T,RYR2,VCV001070571,1070571,NM_001035.3(RYR2):c.12269C>T (p.Pro4090Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237639019:G:C,RYR2,VCV001069130,1069130,NM_001035.3(RYR2):c.6933G>C (p.Glu2311Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237806159:A:G,RYR2,VCV001067931,1067931,NM_001035.3(RYR2):c.14174A>G (p.Tyr4725Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237377396:T:A,RYR2,VCV001067138,1067138,NM_001035.3(RYR2):c.537T>A (p.Asp179Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237806219:A:G,RYR2,VCV001066599,1066599,NM_001035.3(RYR2):c.14234A>G (p.Asp4745Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237631490:C:A,RYR2,VCV001051501,1051501,NM_001035.3(RYR2):c.6504C>A (p.His2168Gln),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237828441:T:TTCC,RYR2,VCV001013805,1013805,NM_001035.3(RYR2):c.14651_14652insTCC (p.Met4884delinsIlePro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237784055:C:T,RYR2,VCV001007679,1007679,NM_001035.3(RYR2):c.12343C>T (p.Leu4115Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237674163:A:AG,RYR2,VCV000982634,982634,NM_001035.3(RYR2):c.8659dup (p.Glu2887fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237445474:C:A,RYR2,VCV000979205,979205,NM_001035.3(RYR2):c.1244C>A (p.Thr415Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237784211:G:A,RYR2,VCV000979204,979204,NM_001035.3(RYR2):c.12499G>A (p.Glu4167Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237707216:T:A,RYR2,VCV000978366,978366,NM_001035.3(RYR2):c.9848T>A (p.Ile3283Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237633671:C:T,RYR2,VCV000957942,957942,NM_001035.3(RYR2):c.6649C>T (p.His2217Tyr),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237633708:T:C,RYR2,VCV000954202,954202,NM_001035.3(RYR2):c.6686T>C (p.Leu2229Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237492996:G:A,RYR2,VCV000947851,947851,NM_001035.3(RYR2):c.1870G>A (p.Ala624Thr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237388087:G:A,RYR2,VCV000947702,947702,NM_001035.3(RYR2):c.677G>A (p.Gly226Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237759848:T:C,RYR2,VCV000940323,940323,NM_001035.3(RYR2):c.11398T>C (p.Cys3800Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237759824:AGCCTGGCCG:A,RYR2,VCV000933804,933804,NM_001035.3(RYR2):c.11380_11388del (p.Ala3794_Leu3796del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237709543:G:GT,RYR2,VCV000931781,931781,NM_001035.3(RYR2):c.10209dup (p.Ile3404fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237648558:ATCTTCTTGAGGT:A,RYR2,VCV000915531,915531,NM_001035.3(RYR2):c.7459_7470del (p.Leu2487_Val2490del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237270563:G:GCAGAAGGATTTGGCAA,RYR2,VCV000870975,870975,NM_001035.3(RYR2):c.120_135dup (p.Leu46fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237831526:G:T,RYR2,VCV000869428,869428,NM_001035.3(RYR2):c.14769G>T (p.Met4923Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237648525:T:C,RYR2,VCV000861770,861770,NM_001035.3(RYR2):c.7424T>C (p.Val2475Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237639068:C:G,RYR2,VCV000840374,840374,NM_001035.3(RYR2):c.6982C>G (p.Pro2328Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237798158:CCTT:C,RYR2,VCV000692253,692253,NM_001035.3(RYR2):c.14079_14081del (p.Leu4694del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237784301:A:C,RYR2,VCV000665174,665174,NM_001035.3(RYR2):c.12589A>C (p.Ile4197Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237784290:G:A,RYR2,VCV000656745,656745,NM_001035.3(RYR2):c.12578G>A (p.Cys4193Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237423097:G:T,RYR2,VCV000654791,654791,NM_001035.3(RYR2):c.854G>T (p.Ser285Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237778755:G:C,RYR2,VCV000654125,654125,NM_001035.3(RYR2):c.11865G>C (p.Gln3955His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237830557:A:C,RYR2,VCV000651491,651491,NM_001035.3(RYR2):c.14683A>C (p.Asn4895His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237643361:T:G,RYR2,VCV000649923,649923,NM_001035.3(RYR2):c.7256T>G (p.Ile2419Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237778727:G:A,RYR2,VCV000644207,644207,NM_001035.3(RYR2):c.11837G>A (p.Gly3946Asp),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237778678:G:C,RYR2,VCV000637985,637985,NM_001035.3(RYR2):c.11788G>C (p.Gly3930Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237784280:G:A,RYR2,VCV000580536,580536,NM_001035.3(RYR2):c.12568G>A (p.Val4190Met),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237784189:G:T,RYR2,VCV000578246,578246,NM_001035.3(RYR2):c.12477G>T (p.Gln4159His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237792319:T:C,RYR2,VCV000575682,575682,NM_001035.3(RYR2):c.13778T>C (p.Leu4593Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237778753:C:G,RYR2,VCV000575059,575059,NM_001035.3(RYR2):c.11863C>G (p.Gln3955Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237633668:G:C,RYR2,VCV000571532,571532,NM_001035.3(RYR2):c.6646G>C (p.Asp2216His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237784251:G:T,RYR2,VCV000570194,570194,NM_001035.3(RYR2):c.12539G>T (p.Gly4180Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237791480:G:C,RYR2,VCV000568135,568135,NM_001035.3(RYR2):c.13528G>C (p.Ala4510Pro),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237819188:A:G,RYR2,VCV000566084,566084,NM_001035.3(RYR2):c.14586A>G (p.Ile4862Met),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237784261:AGAG:A,RYR2,VCV000560709,560709,NM_001035.3(RYR2):c.12550_12552del (p.Glu4184del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237628052:G:A,RYR2,VCV000532366,532366,NM_001035.3(RYR2):c.6412G>A (p.Glu2138Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237819187:T:C,RYR2,VCV000532324,532324,NM_001035.3(RYR2):c.14585T>C (p.Ile4862Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237441320:A:G,RYR2,VCV000520467,520467,NM_001035.3(RYR2):c.1007A>G (p.Glu336Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237639110:G:A,RYR2,VCV000519356,519356,NM_001035.3(RYR2):c.7024G>A (p.Gly2342Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237639095:G:C,RYR2,VCV000463624,463624,NM_001035.3(RYR2):c.7009G>C (p.Gly2337Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237377426:A:T,RYR2,VCV000463608,463608,NM_001035.3(RYR2):c.567A>T (p.Glu189Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237377374:G:A,RYR2,VCV000463605,463605,NM_001035.3(RYR2):c.515G>A (p.Gly172Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237819192:G:T,RYR2,VCV000463579,463579,NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237806236:A:G,RYR2,VCV000463577,463577,NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237445428:G:A,RYR2,VCV000463549,463549,NM_001035.3(RYR2):c.1198G>A (p.Asp400Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237808943:T:C,RYR2,VCV000452065,452065,NM_001035.3(RYR2):c.14341T>C (p.Tyr4781His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237639026:GAG:AAA,RYR2,VCV000450836,450836,NM_001035.3(RYR2):c.6940_6942delinsAAA (p.Glu2314Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,MNV_or_substitution,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237832607:G:A,RYR2,VCV000449306,449306,NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237783708:T:C,RYR2,VCV000427948,427948,NM_001035.3(RYR2):c.11996T>C (p.Met3999Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237377361:C:G,RYR2,VCV000427184,427184,NM_001035.3(RYR2):c.502C>G (p.Gln168Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237781598:A:G,RYR2,VCV000427164,427164,NM_001035.3(RYR2):c.11914A>G (p.Met3972Val),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237828390:T:C,RYR2,VCV000423597,423597,NM_001035.3(RYR2):c.14600T>C (p.Ile4867Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237784281:T:G,RYR2,VCV000420865,420865,NM_001035.3(RYR2):c.12569T>G (p.Val4190Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237783714:A:G,RYR2,VCV000418465,418465,NM_001035.3(RYR2):c.12002A>G (p.Asp4001Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237638450:G:A,RYR2,VCV000404218,404218,NM_001035.3(RYR2):c.6886G>A (p.Glu2296Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237756342:C:T,RYR2,VCV000404208,404208,NM_001035.3(RYR2):c.11200C>T (p.Arg3734Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237832592:A:G,RYR2,VCV000372588,372588,NM_001035.3(RYR2):c.14849A>G (p.Glu4950Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:237377365:G:T,RYR2,VCV000372582,372582,NM_001035.3(RYR2):c.506G>T (p.Arg169Leu),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
-1:115702981:C:T,CASQ2,VCV004798117,4798117,NM_001232.4(CASQ2):c.954G>A (p.Trp318Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115740766:C:A,CASQ2,VCV004281696,4281696,NM_001232.4(CASQ2):c.382G>T (p.Glu128Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115732899:AC:A,CASQ2,VCV004219483,4219483,NM_001232.4(CASQ2):c.606+1del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115705283:TCGTAG:T,CASQ2,VCV003722584,3722584,NM_001232.4(CASQ2):c.843_847del (p.Tyr282fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115768370:C:A,CASQ2,VCV003722580,3722580,NM_001232.4(CASQ2):c.172G>T (p.Glu58Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115768496:AG:A,CASQ2,VCV003688556,3688556,NM_001232.4(CASQ2):c.45del (p.Ser16fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115738337:T:A,CASQ2,VCV003676998,3676998,NM_001232.4(CASQ2):c.421-2A>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115732915:TG:T,CASQ2,VCV003638681,3638681,NM_001232.4(CASQ2):c.591del (p.Thr198fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115732924:AT:A,CASQ2,VCV003623127,3623127,NM_001232.4(CASQ2):c.582del (p.Lys194fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115768540:A:T,CASQ2,VCV003575736,3575736,NM_001232.4(CASQ2):c.2T>A (p.Met1Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115768531:GTT:G,CASQ2,VCV003575685,3575685,NM_001232.4(CASQ2):c.9_10del (p.Arg3fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115732899:A:T,CASQ2,VCV003575384,3575384,NM_001232.4(CASQ2):c.606+2T>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115701253:ATCGTCATCACTGT:A,CASQ2,VCV003338342,3338342,NM_001232.4(CASQ2):c.1175_1187del (p.Asp392fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115732976:T:C,CASQ2,VCV003263466,3263466,NM_001232.4(CASQ2):c.533-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115725509:CA:C,CASQ2,VCV002822271,2822271,NM_001232.4(CASQ2):c.781del (p.Trp261fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115768337:G:A,CASQ2,VCV002806492,2806492,NM_001232.4(CASQ2):c.205C>T (p.Gln69Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115725536:AG:A,CASQ2,VCV002770074,2770074,NM_001232.4(CASQ2):c.754del (p.Leu252fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115740732:AAG:A,CASQ2,VCV002744443,2744443,NM_001232.4(CASQ2):c.414_415del (p.Leu139fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115701359:C:T,CASQ2,VCV002717451,2717451,NM_001232.4(CASQ2):c.1082G>A (p.Trp361Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115768510:AT:A,CASQ2,VCV002704628,2704628,NM_001232.4(CASQ2):c.31del (p.Ile11fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115744878:C:CTA,CASQ2,VCV002506578,2506578,NM_001232.4(CASQ2):c.268_269insTA (p.Gly90fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115727123:C:T,CASQ2,VCV002438853,2438853,NM_001232.4(CASQ2):c.607-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115744826:A:C,CASQ2,VCV002089290,2089290,NM_001232.4(CASQ2):c.319+2T>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115744885:C:CT,CASQ2,VCV001793918,1793918,NM_001232.4(CASQ2):c.261dup (p.Ala88fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5125,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115744827:C:T,CASQ2,VCV001324014,1324014,NM_001232.4(CASQ2):c.319+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-1:115768540:A:G,CASQ2,VCV000452250,452250,NM_001232.4(CASQ2):c.2T>C (p.Met1Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123548549:G:GT,TRDN,VCV004782180,4782180,NM_006073.4(TRDN):c.295dup (p.Thr99fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123503717:A:G,TRDN,VCV004714700,4714700,NM_006073.4(TRDN):c.793+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123516169:TA:T,TRDN,VCV004712099,4712099,NM_006073.4(TRDN):c.521del (p.Val174fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123337646:T:A,TRDN,VCV004077705,4077705,NM_006073.4(TRDN):c.1393A>T (p.Lys465Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123516208:T:A,TRDN,VCV003721374,3721374,NM_006073.4(TRDN):c.485-2A>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123571134:T:C,TRDN,VCV003669900,3669900,NM_006073.4(TRDN):c.23-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123548461:AG:A,TRDN,VCV003593000,3593000,NM_006073.4(TRDN):c.383del (p.Thr128fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123503894:CTTCTG:C,TRDN,VCV002920531,2920531,NC_000006.12:g.123503896TCTGT[1],Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123548510:TC:T,TRDN,VCV002818604,2818604,NM_006073.4(TRDN):c.334del (p.Asp112fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123503902:C:T,TRDN,VCV002730579,2730579,NM_006073.4(TRDN):c.611-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123548518:CA:C,TRDN,VCV002634568,2634568,NM_006073.4(TRDN):c.326del (p.Leu109fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123530539:G:A,TRDN,VCV002018973,2018973,NM_006073.4(TRDN):c.451C>T (p.Gln151Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123636774:A:G,TRDN,VCV001798674,1798674,NM_006073.4(TRDN):c.2T>C (p.Met1Thr),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123548553:C:TT,TRDN,VCV001797791,1797791,NM_006073.4(TRDN):c.292delinsAA (p.Glu98fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123516157:TTC:T,TRDN,VCV001746830,1746830,NM_006073.4(TRDN):c.532_533del (p.Glu178fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123516183:C:A,TRDN,VCV001708485,1708485,NM_006073.4(TRDN):c.508G>T (p.Gly170Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123571063:AC:A,TRDN,VCV001458047,1458047,NM_006073.4(TRDN):c.91del (p.Val31fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123570921:A:T,TRDN,VCV000463677,463677,NM_006073.4(TRDN):c.232+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123570988:A:G,TRDN,VCV000408740,408740,NM_006073.4(TRDN):c.167T>C (p.Leu56Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-6:123503893:TC:T,TRDN,VCV000408737,408737,NM_006073.4(TRDN):c.618del (p.Ala208fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
-14:90404482:A:T,CALM1,VCV004787824,4787824,NM_006888.6(CALM1):c.389A>T (p.Asp130Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-14:90403953:C:G,CALM1,VCV004785412,4785412,NM_006888.6(CALM1):c.270C>G (p.Phe90Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-14:90404491:G:T,CALM1,VCV003338336,3338336,NM_006888.6(CALM1):c.398G>T (p.Gly133Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-14:90404379:G:T,CALM1,VCV002100843,2100843,NM_006888.6(CALM1):c.286G>T (p.Asp96Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-14:90404488:A:G,CALM1,VCV001362982,1362982,NM_006888.6(CALM1):c.395A>G (p.Asp132Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-14:90404689:A:T,CALM1,VCV000974613,974613,NM_006888.6(CALM1):c.422A>T (p.Glu141Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-14:90404689:A:G,CALM1,VCV000974612,974612,NM_006888.6(CALM1):c.422A>G (p.Glu141Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-14:90404693:C:A,CALM1,VCV000961658,961658,NM_006888.6(CALM1):c.426C>A (p.Phe142Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-14:90404488:A:T,CALM1,VCV000948239,948239,NM_006888.6(CALM1):c.395A>T (p.Asp132Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-14:90404487:G:A,CALM1,VCV000639902,639902,NM_006888.6(CALM1):c.394G>A (p.Asp132Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-14:90404491:G:A,CALM1,VCV000542137,542137,NM_006888.6(CALM1):c.398G>A (p.Gly133Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-14:90404691:T:C,CALM1,VCV000426161,426161,NM_006888.6(CALM1):c.424T>C (p.Phe142Leu),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-14:90404512:A:T,CALM1,VCV000418107,418107,NM_006888.6(CALM1):c.419A>T (p.Glu140Val),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-14:90404406:G:A,CALM1,VCV000388500,388500,NM_006888.6(CALM1):c.313G>A (p.Glu105Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-14:90401312:A:C,CALM1,VCV000384090,384090,NM_006888.6(CALM1):c.88A>C (p.Thr30Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-2:47162303:A:G,CALM2,VCV002734184,2734184,NM_001743.6(CALM2):c.268T>C (p.Phe90Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-2:47161831:C:G,CALM2,VCV002500174,2500174,NM_001743.6(CALM2):c.313G>C (p.Glu105Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-2:47161750:C:A,CALM2,VCV001456260,1456260,NM_001743.6(CALM2):c.394G>T (p.Asp132Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-2:47161756:C:T,CALM2,VCV001398892,1398892,NM_001743.6(CALM2):c.388G>A (p.Asp130Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-2:47161804:C:T,CALM2,VCV001327459,1327459,NM_001743.6(CALM2):c.340G>A (p.Gly114Arg),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-2:47161747:C:T,CALM2,VCV001067140,1067140,NM_001743.6(CALM2):c.397G>A (p.Gly133Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-2:47161749:T:C,CALM2,VCV000955533,955533,NM_001743.6(CALM2):c.395A>G (p.Asp132Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-2:47161755:T:C,CALM2,VCV000812710,812710,NM_001743.6(CALM2):c.389A>G (p.Asp130Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-2:47161858:C:A,CALM2,VCV000641544,641544,NM_001743.6(CALM2):c.286G>T (p.Asp96Tyr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-2:47160792:A:C,CALM2,VCV000576319,576319,NM_001743.6(CALM2):c.434T>G (p.Met145Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-2:47161730:G:C,CALM2,VCV000488476,488476,NM_001743.6(CALM2):c.414C>G (p.Asn138Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-2:47161744:C:T,CALM2,VCV000448971,448971,NM_001743.6(CALM2):c.400G>A (p.Asp134Asn),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-19:46609129:T:G,CALM3,VCV002138308,2138308,NM_005184.4(CALM3):c.426T>G (p.Phe142Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,strong,0.85,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-19:46608950:C:G,CALM3,VCV001358003,1358003,NM_005184.4(CALM3):c.390C>G (p.Asp130Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,strong,0.85,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-19:46608981:G:A,CALM3,VCV000812678,812678,NM_005184.4(CALM3):c.421G>A (p.Glu141Lys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,strong,0.85,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-19:46608949:A:G,CALM3,VCV000812676,812676,NM_005184.4(CALM3):c.389A>G (p.Asp130Gly),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,strong,0.85,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-19:46609125:A:G,CALM3,VCV000458198,458198,NM_005184.4(CALM3):c.422A>G (p.Glu141Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,strong,0.85,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-19:46608584:A:C,CALM3,VCV000409871,409871,NM_005184.4(CALM3):c.281A>C (p.Asp94Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,strong,0.85,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-19:46608846:G:C,CALM3,VCV000409870,409870,NM_005184.4(CALM3):c.286G>C (p.Asp96His),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,strong,0.85,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-19:46608955:A:G,CALM3,VCV000389576,389576,NM_005184.4(CALM3):c.395A>G (p.Asp132Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,strong,0.85,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
-4:113332071:G:A,ANK2,VCV004796659,4796659,NM_001148.6(ANK2):c.3224+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113343099:G:GT,ANK2,VCV004732021,4732021,NM_001148.6(ANK2):c.4212dup (p.Ala1405fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113359191:G:T,ANK2,VCV004725226,4725226,NM_001148.6(ANK2):c.10573G>T (p.Glu3525Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113357844:C:T,ANK2,VCV004721538,4721538,NM_001148.6(ANK2):c.9226C>T (p.Gln3076Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113333098:AG:A,ANK2,VCV004708265,4708265,NM_001148.6(ANK2):c.3271del (p.Glu1091fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113354062:CAG:C,ANK2,VCV004683080,4683080,NM_001148.6(ANK2):c.5450_5451del (p.Arg1817fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113357838:C:T,ANK2,VCV004613600,4613600,NM_001148.6(ANK2):c.9220C>T (p.Gln3074Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113357853:AC:A,ANK2,VCV004613598,4613598,NM_001148.6(ANK2):c.9239del (p.Pro3080fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113348282:G:T,ANK2,VCV004531921,4531921,NM_001148.6(ANK2):c.4378G>T (p.Glu1460Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113346023:G:A,ANK2,VCV004293673,4293673,NM_001148.6(ANK2):c.4371+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113356654:C:G,ANK2,VCV004292238,4292238,NM_001148.6(ANK2):c.8036C>G (p.Ser2679Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113358882:G:T,ANK2,VCV004097147,4097147,NM_001148.6(ANK2):c.10264G>T (p.Glu3422Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113357955:C:T,ANK2,VCV004097146,4097146,NM_001148.6(ANK2):c.9337C>T (p.Arg3113Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113287648:T:G,ANK2,VCV004088107,4088107,NM_001148.6(ANK2):c.2123T>G (p.Val708Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113355367:C:T,ANK2,VCV004075802,4075802,NM_001148.6(ANK2):c.6749C>T (p.Ser2250Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113353201:AG:A,ANK2,VCV004075490,4075490,NM_001148.6(ANK2):c.4585del (p.Ala1529fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113360821:A:G,ANK2,VCV004071961,4071961,NM_001148.6(ANK2):c.10682-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113346022:G:A,ANK2,VCV004071958,4071958,NM_001148.6(ANK2):c.4371G>A (p.Lys1457=),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113353828:T:A,ANK2,VCV004051668,4051668,NM_001148.6(ANK2):c.5210T>A (p.Leu1737Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113317810:G:A,ANK2,VCV003898990,3898990,NM_001148.6(ANK2):c.2796+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113353508:GAA:G,ANK2,VCV003897593,3897593,NM_001148.6(ANK2):c.4892_4893del (p.Lys1631fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113335941:C:T,ANK2,VCV003772520,3772520,NM_001148.6(ANK2):c.3475C>T (p.Gln1159Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113357857:CT:C,ANK2,VCV003729667,3729667,NM_001148.6(ANK2):c.9240del (p.Asp3081fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113357939:AT:A,ANK2,VCV003654249,3654249,NM_001148.6(ANK2):c.9323del (p.Leu3108fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113317795:AT:A,ANK2,VCV003632705,3632705,NM_001148.6(ANK2):c.2784del (p.Ser930fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113353367:TGA:T,ANK2,VCV003540989,3540989,NM_001148.6(ANK2):c.4755_4756del (p.Gly1586fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113330274:C:T,ANK2,VCV003540979,3540979,NM_001148.6(ANK2):c.2929C>T (p.Arg977Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113335878:C:T,ANK2,VCV003390615,3390615,NM_001148.6(ANK2):c.3412C>T (p.Arg1138Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113049789:CAG:C,ANK2,VCV003383192,3383192,NM_001148.6(ANK2):c.64_65del (p.Arg22fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113358927:ATACT:A,ANK2,VCV003377103,3377103,NM_001148.6(ANK2):c.10313_10316del (p.Leu3438fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113358157:ACTTACT:TGGATGATGAG,ANK2,VCV003376714,3376714,NM_001148.6(ANK2):c.9539_9545delinsTGGATGATGAG (p.Asp3180fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113354861:T:TG,ANK2,VCV003376713,3376713,NM_001148.6(ANK2):c.6245dup (p.Gly2083fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113354249:ACACT:A,ANK2,VCV003376711,3376711,NM_001148.6(ANK2):c.5635_5638del (p.Ser1879fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113365182:G:A,ANK2,VCV003365181,3365181,NM_001148.6(ANK2):c.11032G>A (p.Gly3678Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113354341:GC:G,ANK2,VCV003344952,3344952,NM_001148.6(ANK2):c.5724del (p.Thr1910fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113343143:G:T,ANK2,VCV003340753,3340753,NM_001148.6(ANK2):c.4248+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113360880:T:C,ANK2,VCV003338731,3338731,NM_001148.6(ANK2):c.10739T>C (p.Leu3580Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113302840:G:A,ANK2,VCV003337796,3337796,NM_001148.6(ANK2):c.2548+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113357732:TG:T,ANK2,VCV003119609,3119609,NM_001148.6(ANK2):c.9115del (p.Asp3039fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113363349:G:T,ANK2,VCV003068471,3068471,NM_001148.6(ANK2):c.10768G>T (p.Glu3590Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113354752:CAG:C,ANK2,VCV003030812,3030812,NM_001148.6(ANK2):c.6138_6139del (p.Asn2047fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113357778:GC:G,ANK2,VCV002861152,2861152,NM_001148.6(ANK2):c.9162del (p.Phe3055fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113343096:TC:T,ANK2,VCV002672177,2672177,NM_001148.6(ANK2):c.4203del (p.Phe1401fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113332043:T:TG,ANK2,VCV002576797,2576797,NM_001148.6(ANK2):c.3201dup (p.Pro1068fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113330297:CAG:C,ANK2,VCV002575852,2575852,NM_001148.6(ANK2):c.2954_2955del (p.Arg985fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113373350:GC:TT,ANK2,VCV002565317,2565317,NM_001148.6(ANK2):c.11760_11761delinsTT (p.Gln3921Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113292416:AACGGCTAC:A,ANK2,VCV002544521,2544521,NM_001148.6(ANK2):c.2282_2289del (p.Gly761fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113255780:G:T,ANK2,VCV002506786,2506786,NM_001148.6(ANK2):c.1036G>T (p.Glu346Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113355370:CAAAGA:C,ANK2,VCV002499788,2499788,NM_001148.6(ANK2):c.6757_6761del (p.Lys2252_Lys2253insTer),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113357802:G:T,ANK2,VCV002430081,2430081,NM_001148.6(ANK2):c.9184G>T (p.Glu3062Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113369632:C:T,ANK2,VCV002228433,2228433,NM_001148.6(ANK2):c.11437C>T (p.Gln3813Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113174449:AGAGCAGGCAACCTGGACAAAGTTGTGGAATATCTGAAGGGGGGCATAGACATCAATACCTGCAATCAGGTAAGAACATGGCAGCTAGCTCTGTGTTGTGCAACGAAGGAACACTCATTACATTCTCAGAGCCCAAGATTATTTTTGTCTTTATTAAAAATACTAAAATATCAGTGACTCAGACTTCTGAAATCCCATTTTTTGCCCCCTTACCAACTTTTCAAGTATCAGATGTTTGTATCTA:GAGCTAATGTTGCTGAAAAATTAGCTCC,ANK2,VCV002121821,2121821,NM_001148.6(ANK2):c.118_186+175delinsGAGCTAATGTTGCTGAAAAATTAGCTCC,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113358433:AT:A,ANK2,VCV002029441,2029441,NM_001148.6(ANK2):c.9817del (p.Ser3273fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113333109:C:CT,ANK2,VCV001729746,1729746,NM_001148.6(ANK2):c.3281dup (p.Val1095fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113242117:A:C,ANK2,VCV001695772,1695772,NM_001148.6(ANK2):c.799A>C (p.Ile267Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113117420:T:C,ANK2,VCV001678114,1678114,NM_001148.6(ANK2):c.85-56996T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113311281:G:T,ANK2,VCV001678112,1678112,NM_001148.6(ANK2):c.2575G>T (p.Gly859Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113359094:G:GAC,ANK2,VCV001483377,1483377,NM_001148.6(ANK2):c.10480_10481dup (p.Gln3494fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113311368:C:T,ANK2,VCV001334346,1334346,NM_001148.6(ANK2):c.2662C>T (p.Arg888Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113353994:AGG:A,ANK2,VCV001317290,1317290,NM_001148.6(ANK2):c.5377_5378del (p.Gly1793fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113330364:C:T,ANK2,VCV000985758,985758,NM_001148.6(ANK2):c.3019C>T (p.Arg1007Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113288387:G:A,ANK2,VCV000985336,985336,NM_001148.6(ANK2):c.2179-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113358977:CA:C,ANK2,VCV000985206,985206,NM_001148.6(ANK2):c.10360del (p.Arg3454fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113358096:G:T,ANK2,VCV000954568,954568,NM_001148.6(ANK2):c.9478G>T (p.Glu3160Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-4:113335953:CTGAT:C,ANK2,VCV000818077,818077,NM_001148.6(ANK2):c.3490_3493del (p.Ile1164fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
-17:70175686:A:G,KCNJ2,VCV004788797,4788797,NM_000891.3(KCNJ2):c.647A>G (p.Asn216Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-17:70175387:CA:C,KCNJ2,VCV004784294,4784294,NM_000891.3(KCNJ2):c.351del (p.Glu118fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-17:70175596:C:G,KCNJ2,VCV004783746,4783746,NM_000891.3(KCNJ2):c.557C>G (p.Pro186Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-17:70176083:C:G,KCNJ2,VCV003755832,3755832,NM_000891.3(KCNJ2):c.1044C>G (p.Tyr348Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-17:70175308:T:G,KCNJ2,VCV003220886,3220886,NM_000891.3(KCNJ2):c.269T>G (p.Leu90Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-17:70175941:T:A,KCNJ2,VCV002682647,2682647,NM_000891.3(KCNJ2):c.902T>A (p.Met301Lys),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-17:70175271:G:A,KCNJ2,VCV002036326,2036326,NM_000891.3(KCNJ2):c.232G>A (p.Asp78Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-17:70175263:C:A,KCNJ2,VCV002020840,2020840,NM_000891.3(KCNJ2):c.224C>A (p.Thr75Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-17:70175464:C:T,KCNJ2,VCV001739158,1739158,NM_000891.3(KCNJ2):c.425C>T (p.Thr142Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-17:70175685:A:T,KCNJ2,VCV001496231,1496231,NM_000891.3(KCNJ2):c.646A>T (p.Asn216Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-17:70175676:C:G,KCNJ2,VCV000995608,995608,NM_000891.3(KCNJ2):c.637C>G (p.Arg213Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-17:70175977:GCTCTTA:G,KCNJ2,VCV000981438,981438,NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-17:70175756:AG:A,KCNJ2,VCV000960380,960380,NM_000891.3(KCNJ2):c.721del (p.Glu241fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-17:70170729:ACTTGTTAGCGTTTTCCTGCTCACTTCCAAATGTTTCATTTCTATTTGCCATTATCTGGAAAAATCCTGGTGCTCAGAAGGGGTAAGAGATGTTAATTGAAGCATGGTGGAAAGGGTGAGGATAAGGTCAAGGCCATTTTACTTAGCTTCCTCCTCTCTCATATTTTAATGACACTTTATTTTTTAATGTTCTTGGTCTCCATAAGAAATATTTGATCTAAACTCATGTGAATTTTGCTTTTAAAAAAAATAAAAGAACACAGTCTTTCTACATCCTTTGGATTCCTGAGTTGTAGAATCTCTGGTTAGCTGTAGCGTCCTTGTATGACTTTTGCGTAGCCTGAAAGATTGAAAACAGCTACCTGCACAGATTAAGTGTTTCAGATTTTTTTAAGTGTATATTTTTATTTACCAAACATGTCTGTTTTTCAGCGTATGCAAATGCTGAGCAGTGCTACAAGCCAAGTGTCGTTGAGTATAAATGTTAGACAGGGGGCTCACACGTAGATAGATGGGTATCCCCCTCCCCTCCCCACTTCCCCCTCCTCCTCCCTCATGTTTATTGAGCTTCTAAGAGGCTGCTTTCCTAGCAGTTGTGCTCACATAGCAACATGTGCCCAGAGCACACTCAGGCTGTTCTATATGGCGTCAGCTGGGGAATAGCTGCTCTAAACACTCATTAGCAGACCTCTCTCTCAGCCCAGTACGTTTTCTTTTGCTATCTTTATTTCCTATCCTTAGAAACTTTCTTATTTATTGCACACCATGACCATATTACAGGACACATTTACTCTCATTTGATTTTTTTTTTTAGTTATTTATAAGCCATATTGGAAGTATTACCTATATAGTCAAAGCAATTTAGATCCCCCATTTGTACCATGTGATCTCCTTGACCTTACATTTATCCATAGCTCTTTCTCCTTTAACATCTACCTAAGTTTAAAACGCTGAACTATTTTTTTCCATTGCTTATGCTTAATTTTGGCTCAGCCTATAAATAGTCTTAACATGAACAGCACCACATGTAACCTCTCAATTTCCCAAAAATACTTTCTACATCATGGGTTATGGCCTGGATAAAAATGATTATTTGTGTCCATGAAATTTACATCTAGACCCTTAAATATTTTGGCTGGAAGGGAGATTTACACATTGTTCATCAAATCAAATTTCAATTCTCTGGATTTGTATCACTTAGTGTTCTCATCTACTCCTCATTGATTGCATCTCAAACATTATTTTGAATATATGCTTGAAATAAAGTTGCATGTAAGCCCTGTTTTTTTAATGATAGCTTTTCTCAGCTGCTCACGAATTGGTAATTGCTAGTGAGAGGACCGGGCAAGGAAGTTTTCTGCTTGCTTAAAGTCGCTCAGGCATGTGGGCAGGTTAACAGTAAAAGCAATTTTTACCATGAAATATTAAGACCGTTACCCCATCAAACCTTGACAGGTTCTAGACTTTAGCTATGTAATCAGCTCCACAAAAAGTCTGCATACATATATGTGTGTGCACCTGCATACACACATAAATCTGTTTGGGGGCATATCTATTTAAAGTGGCAAAAGTTTTCTTTTTGCCAAAAAAAAAAAAAAAAAAAAAAAAAGCCCAAAACTCCTCTTTTTCTCTTTCCAGGAAGAAATGGTAAAATTTCTAAATGATGCTCCACATGTGGAACAAATTCTGTTATTAGCAATGGAAATAAGACAATAATAGTCTCTCAATACAGGCTACTTTCAAGATTCTAAATGTGGAAAGCTATTCATAGGAAGCTGGTATTGTGTGATTTGTGGAATTCAAACAAATGTCCTGGGGTCAAGATTTTTGGAAAGTCATAATTCAGTCTTTAGATTTCATATGGTTGTTATGTTTTAATCTGGAAGGAGTACAGAAATAAGTCAGAAGAAATTTGAGACTGTCTACTCATGGCCCCTAATGGTAACTCACATGGAAGGATTGTTTTGAATCATGAAAAGGGAATTTCTTGGTGTCAGCTTATAATACAAAGTTCTGAAGTCAATCAGAACTCAAAAATACAAAGCATTCATTGAATGAAGTTCTTCTCCTTTTTTTGAAACGTATACCTGCGTTTGGTGTTGTTGCTGTCTCTGTCTGTTTAGTAATGTGAGAAAACTAAGATGAAATAATTGCTTAAAAAATGCTGTCCATGTACAGGATCTAGAACTTCGAGGGGCAGGATTCTTGTTTCTTTGGTCCAAGTGCAAACTTCACAGGGAAGCAGACAAAACATTGAAGCAGGTGGAAGGTTAGGAAAGCACAGTAACTTCTTTTTATAAAGTAATTCAAAGGCACTTTCAAACTGAGCATCATTTAGGTGTCAAAAGCTGCCAAAATGTAACACACATTGCAATTTTCAAAGATGACTAATCTCAGGAAAAATGTGTTGGGGCACATTCTTGCATAATAACTTGGATAAAGAAGAAGTCAAAAGACAGTAACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCACTATTCTATTTGTAGGTGGGAATCTGACTTTCTTCCTCTAGCATTTCGTCAGCCTATCCGGTCTGCTCAGTTATATCATTTAAACAAAATAGTCTGTCTTCCGATTTCAACCTTGCCATCAGGGACTCTAATATTCTCCCGTAATGCACATGCAACTCAGTGGATATCAATGCTGCGTCCACGTGAAGTTTTCTAAACATGTCCTTTTTCCAAAAATTTTACGACAAACCTTGGAATCAGACAGTCTTTCATCTGCTTAACAGGGATCCTAGCAAGTGGGGCAGGCAGAAGAAGAGAATAAGAGAAGGGAGAGGTAGACCTGAACAATAGAATATTCTAGATCCCTGGCCAAAAAGAAGGGAAAGGGGACCTGACCTGACATTTTGGTTGAACAACTGTCACAGACAACTCTTCTATGTTTAACGACTTTATGCTTTTAAATAAAAGTTTTACAAAGCATGCTTAGGATACAAAGAAATTTAAAACCTTATAATTTAATGTAAATTATACTTATCTTTACCTGATTATGTGTTTTTGTTAGGATATATTGTCTTAGACAGTAGAATTCTTTAAGAGTGGCTTATTTTGTAATGCACAGTCTCTCTTTTCTTGCAGGACATGTTCTCTGGATGTCAGCTGAGTCATTAAAGTAACTCTGCATGTCAGTAGACAGACCTTGGTAGAACCACAAGGCTCCCAGAGACACCCATCTCTCCTCATTTTTTTGGTGTGTGTGTCTTCACCGAACATTCAAAACTGTTTCTCCAAAGCGTTTTGCAAAAACTCAGACTGTTTTCCAAAGCAGAAGCACTGGAGTCCCCAGCAGAAGCGATGGGCAGTGTGCGAACCAACCGCTACAGCATCGTCTCTTCAGAAGAAGACGGTATGAAGTTGGCCACCATGGCAGTTGCAAATGGCTTTGGGAACGGGAAGAGTAAAGTCCACACCCGACAACAGTGCAGGAGCCGCTTTGTGAAGAAAGATGGCCACTGTAATGTTCAGTTCATCAATGTGGGTGAGAAGGGGCAACGGTACCTCGCAGACATCTTCACCACGTGTGTGGACATTCGCTGGCGGTGGATGCTGGTTATCTTCTGCCTGGCTTTCGTCCTGTCATGGCTGTTTTTTGGCTGTGTGTTTTGGTTGATAGCTCTGCTCCATGGGGACCTGGATGCATCCAAAGAGGGCAAAGCTTGTGTGTCCGAGGTCAACAGCTTCACGGCTGCCTTCCTCTTCTCCATTGAGACCCAGAC:A,KCNJ2,VCV000946743,946743,NM_000891.3(KCNJ2):c.-217+1029_422del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-17:70175473:A:G,KCNJ2,VCV000858285,858285,NM_000891.3(KCNJ2):c.434A>G (p.Tyr145Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-17:70175563:T:TCATTGG,KCNJ2,VCV000801410,801410,NM_000891.3(KCNJ2):c.526_531dup (p.Ile176_Gly177dup),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-17:70175935:A:G,KCNJ2,VCV000689769,689769,NM_000891.3(KCNJ2):c.896A>G (p.Glu299Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-17:70175596:C:A,KCNJ2,VCV000652820,652820,NM_000891.3(KCNJ2):c.557C>A (p.Pro186Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-17:70176139:TC:T,KCNJ2,VCV000569363,569363,NM_000891.3(KCNJ2):c.1102del (p.Leu368fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-17:70175704:T:C,KCNJ2,VCV000546134,546134,NM_000891.3(KCNJ2):c.665T>C (p.Leu222Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-17:70175194:G:T,KCNJ2,VCV000523694,523694,NM_000891.3(KCNJ2):c.155G>T (p.Gly52Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-17:70175692:G:C,KCNJ2,VCV000430545,430545,NM_000891.3(KCNJ2):c.653G>C (p.Arg218Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-17:70175604:A:G,KCNJ2,VCV000429589,429589,NM_000891.3(KCNJ2):c.565A>G (p.Arg189Gly),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-15:73323225:CTCCGGGAGTCCCAGGCCTCCCCGGGCCCCGGGTGGCGCGGGAGATGGCTGGGCAGCCTGCGGGGAGCGGGCGCCTGGCTGCAGCGGGGTGAGCAGGGGAGAGTCGGAGGAGGACAGGGAGCCACCCAGCGCCTTGTGGAAGTGGCCAAACCCGGCTATGGTGGTGGCGGCTACGCCAGCTGATGGTGTGGGAGCCGAGGGGGAGCCACAGGCCCCGGGGGGTGGGGAGGAGCTGGATGAGGGCAGGAGTGGGCTCAGTCCAGCGGGGGCAGAGAATCCAGCCAGCTGTTGGATGTGGAAGGAGGATGAAGACGGTGTGTCCACCTGGGACGGGCTGCTGGCGGGCGAGGCGGAGCCCAGCGCAGAAGGGATCAGGGACTGCAGCCGTTTCAGGTGCCTTGGCGTCTGCCCGGCACCGAGGTTGCCCAGCCCAGATCCTGGGGGAGGGCGGAAGATGGCAGCAGGCAGGCGAGGGTGGTGGGTGAGGGCTATGGCCACAGAAGTGGTGGCAGCGGCAGCCTGCAGTGGTGCCTGGATCAGCGGGGTCCAGATGACGGGCGTGGGGGTTGGGGTGGCAGAGGCAGCAGCCTGGACGCGGTGCGCGCAGTGGGCCATCTCCCGGTCATGCTGCACAATCTGCTGGATGATCTCATTCTCCTGGTAGTTGAAGACGCCGGAGTTGAGGTCGTGCTGGACTTTGTGGAGGAGGATGGAGTTCTTCTTGCCTGGGCCACAGAACAAGAACAGGCACTCAGGGCAGAGCGGGGAAGGAGATCAGGTGCAGACCTGGCTTAGGCATAAAGGAGCCCTGCCCTCCTCCCCCAACACCCCCCACCTGCCCCGCCTGTGGCCCCTCCCCCTCACCAATGCGGTCCAGGCGGTCCAGCGCCACGGTCTCGAAGGCCCTTCGCATCATGGGGTACTCCTCCAGCACCTCATTGAAGTTGTCCACGCTCAGCGAGTAGAGGCGGCAGTAGGTGTCGGCCCTCACGCTGGCTGTGCGCCGGCCCCGGGTCAGCAGGCAGATCTCTGCCAGAGCATCAGGACTCAGGATGAGGCATGCACAGCCTGCCCAGGCCAGGGGGACTGCCCACCCTGACCTTGGCCCTGACTGCCTGGCACAGAAGCCTTGGCAGGCTCACAAGGCCCTGCCCCCAGACTGCGGCCACACTGGATGCCTCTTCCCCACCAAATGGGGGCTGGACAGACTTTCCCATCTTTGGGACATACCCTCTGCTCTGGACTGAATGTGTTCCCCCAAAATTTATATGTTGAACCCCTAATCCCAGCATGATGGTATTTGGAGGTGGGGCCTAGGGAGGTGATTAGATCACGAGGGTGGAGCCCTCGTGGATGGAATTAGTGCCTTTTTAGGAGGAGGCCGGGGAGCTGGCTCATCCTCCTTCTGCCACATGAGGACACAGCGAGAAGTCAGCAGTGCAGCCCAGAAGAGGGCCCTCACCAGCCCCAACCATGCTGGCCCCCTCAGCTCAGATGGCCAGCCTCCAGAACCATGACACATACATTTCTGCAGTTTACAAGCCACCCAGTCTGCGGCACTTTTGTTACAAGAACCCAGACTGACTAAGACACCCCTACCCTGGGCTCACAGACACCTCCCTCCAGGCTGTGGCCAAGAAGGGTGCTCACTGCCTCTGTCCCCTCGGTATCTCCCCAAACCAGCCCCTGGGAGCAGCTGCCCTGTCCCCCAGGGCCCAGGGCTGCCTCACCTCCAAAGTAGGAGCCGTCGGCCAGCTTGGTCTCCTTGTTGCCCTTGGTGAGCACGCTGACCACGCCATGCTGGATGAAGTACATCTTCTTGCCAATGGTGCCTTCCCGGATGATGTAGTCCCCAGGCTGGAAGACCTCGAAACGCAGCTTGGTCAGCATGGACGTCACGAAGTTGGGGTCCGCATTGGCAAACAGTGGCATGGAGGCCACCAGCTTCCGACAGTTAAAGTTGATGATCTCCTGCCGGACAGGGTGGATTGGGACACGGGAAGGAGGTGGTGAGGGGAGCTGGCTGCCAGGAAGGCCTGGCTCCCCTCCACGCCGGGCCGCCACACAGCTCACCTCCCGCAGGGGCTCGCTTAGCTCGCCCAGGATGCTCTCCTCGTCGAACATCTTGCCCTGGTAGCGGTGCTCGTAGTAGTCGTGGATGCGCTGCCGGGTGTCGGGCGGGAGCTTGTGAAAGGACATGTACTGCTCCACCTGCTTGTACTGAGGCCGGGAGAAGGGGGCGTCAGCTCCACCCCACCAGGGGGCGTCAGCAGCCAGCCCCACCACCTCGGCAGGCACCACATCCGGGCACCCACCCCGGGGGATTTCCTGGCTAAACTTGGTTCCTTGAGATCTGAGGTCTACAGTGTGGAAATGACCTCACTGTGCTCAAAACAACTGCCCGGGCTCCCAGCTGCTTGGCATGGAGGAGGGGCCCCCACCAGCATCTGCTCCTCGCTGTGTTCAATACTAAGGAGGTGGGTGAGGGCGGCAGGGAATGTCCAAAGCCCAGTGACAGGACATCAACTGTATCTCCAGGGAGGTCGATCACATTTCCTTGGAATGTTACACTGGGGACAGGGAGGCCTCACCGACTCTGCGGGGAAAGAAGCTGTTTCCTCCCAGCAGTGACAACTGGCACAGTCAGGAGGCAAGGGTGCGATGGATCAGAACGCTCAGAGGCAGAAGCAAGGATGCCTGGCTGCTCGATGCTATGAATCCAAACGTGGCCTCAGCTGAGACCCCGGGTCATTTCGTTGAGAGCAACTCCAGGTAAGGGAAAAGCAGGGTAGACTAATTTGAGGGGACCTTCAAATAGAGGCTCGGGTACAAAAGATTTGTGAGCCTCAGACCCTGGGGCTCAAACAAATAAGAAACGATCCTGCCCGCCCTCACTGAGAGGAGTGGACATTGCTCCCACCATCCTAGATTGTGGGTGGACAGTGGGATTCCCAAGAGCAGGATGAGGGATGGGAGGTATTGATTAGGCAACAACACAGACTCCTCCCGGATGGGAAGTAGAGGAAGTCCCTATCACCCCAGCAGCAATCAGAAACGGGGCAGCCTGTTTGCATCTATGTGTGCTCCAAAGAGGTGGGAACGCACAACTGCTGCACAGAAACACCCACGGGCAAATGAGGGCTGAGAAATGACATTTCCTAAACTTCTTCCAGCCACCCTGGCCTCTGACTGCTCCAAGTTATGCAAAGTCCCAGGGGACAGTGACTTCCTGGCTGGTTACAGAGATGGAGGCAGCTGGAAAACCTGGAGCTGTGTTTTAGAGAGTCCCTCCCCTGACCCCCAGAGAACAGGTAGGGGTAGGGAGGCAGGGTCTGGACATGGGGCAGGAGTTAAAAGGTTGAAGTGGTCCAGGTGAGAGACAGACGTGGGGATGGAGAGGAGGGAAGACATTTAAGAGAAATTTATTGGGCAGACTTAGATATTAGCCAAAGGACAAACATTTTAAAGTCTCAAATGAAAAGCCACAGACGCCTTGACTCTGGCCCTAAAATAAACTCTGATGCATTTTCTTTTCTTTTTTTCTTTTTATTTATTTATTTATTTATTTATTTTTTTTGTTAAGACAGGGTCTCGTTGTGTTGCCTAGACTGGAGTGCAGTGATATGAACACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCGATTCTCCCATCTCAGCCTCCTAAACAGCTGGCACTATAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACAGGGTTTTGCCACGTTGCCCAGGCTGCTCTTGAACTCCTGGGCTCAAGAAATCAGCTCGCTTCAGCCTCTCAAAGTGCTGGGATTGCAGGCATGAGCCATCATGCCCAGCCTCCCAGACGCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGGGTGCAGTGGTGCAATCTTAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTGAGTAGCTGGGACTACAGGTGTGCACCACCACGCCCAGCTAATTTTTTTTTTACTTTTAGTAGGGATGAAGTT:C,HCN4,VCV004755562,4755562,NM_005477.3(HCN4):c.1591-1861_2867del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True
-15:73329730:C:T,HCN4,VCV002636206,2636206,NM_005477.3(HCN4):c.1433G>A (p.Cys478Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True
-15:73323574:G:GCGGA,HCN4,VCV002028837,2028837,NM_005477.3(HCN4):c.2515_2518dup (p.Ala840fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True
-15:73325193:C:G,HCN4,VCV001697968,1697968,NM_005477.3(HCN4):c.1740G>C (p.Glu580Asp),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True
-15:73329718:C:T,HCN4,VCV001675065,1675065,NM_005477.3(HCN4):c.1445G>A (p.Gly482Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True
-15:73343533:T:C,HCN4,VCV001359536,1359536,NM_005477.3(HCN4):c.1061A>G (p.Tyr354Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True
-15:73329692:C:G,HCN4,VCV000666148,666148,NM_005477.3(HCN4):c.1471G>C (p.Asp491His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True
-15:73324088:C:T,HCN4,VCV000470654,470654,NM_005477.3(HCN4):c.2143+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True
-15:73332261:G:C,HCN4,VCV000374861,374861,NM_005477.3(HCN4):c.1241C>G (p.Ala414Gly),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True
-15:73329722:A:G,HCN4,VCV000374860,374860,NM_005477.3(HCN4):c.1441T>C (p.Tyr481His),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True
-15:73329719:C:G,HCN4,VCV000374859,374859,NM_005477.3(HCN4):c.1444G>C (p.Gly482Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,,,,unanchored,0.0,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True
-15:73325000:T:TGGTGAGCACGCTG,HCN4,VCV000374858,374858,NM_005477.3(HCN4):c.1920_1932dup (p.Lys645fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True
-12:2653892:G:A,CACNA1C,VCV004689845,4689845,NM_000719.7(CACNA1C):c.4132G>A (p.Gly1378Arg),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2457652:GC:G,CACNA1C,VCV004613766,4613766,NM_000719.7(CACNA1C):c.704del (p.Ala235fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2582847:C:T,CACNA1C,VCV004536255,4536255,NM_000719.7(CACNA1C):c.2129C>T (p.Ser710Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2567737:C:G,CACNA1C,VCV004531394,4531394,NM_000719.7(CACNA1C):c.1838C>G (p.Pro613Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2449015:G:C,CACNA1C,VCV004531392,4531392,NM_000719.7(CACNA1C):c.517G>C (p.Glu173Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2666696:A:G,CACNA1C,VCV004530641,4530641,NM_000719.7(CACNA1C):c.4537A>G (p.Lys1513Glu),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2567600:C:G,CACNA1C,VCV004292479,4292479,NM_000719.7(CACNA1C):c.1701C>G (p.Phe567Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2651688:C:T,CACNA1C,VCV004278773,4278773,NM_000719.7(CACNA1C):c.3994C>T (p.Arg1332Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2597290:G:T,CACNA1C,VCV004086502,4086502,NM_000719.7(CACNA1C):c.2853+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2486121:A:T,CACNA1C,VCV003897582,3897582,NM_000719.7(CACNA1C):c.775A>T (p.Asn259Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2593249:G:A,CACNA1C,VCV003894932,3894932,NM_000719.7(CACNA1C):c.2567G>A (p.Gly856Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2582943:G:C,CACNA1C,VCV003775665,3775665,NM_000719.7(CACNA1C):c.2224+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2512930:G:C,CACNA1C,VCV003718454,3718454,NM_000719.7(CACNA1C):c.1336G>C (p.Asp446His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2665673:TA:T,CACNA1C,VCV003600410,3600410,NM_000719.7(CACNA1C):c.4495del (p.Arg1499fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2605112:C:T,CACNA1C,VCV003573697,3573697,NM_000719.7(CACNA1C):c.2992C>T (p.Arg998Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2608531:ACT:A,CACNA1C,VCV003483968,3483968,NM_000719.7(CACNA1C):c.3379_3380del (p.Ser1127fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2120345:TACTG:T,CACNA1C,VCV003483966,3483966,NM_000719.7(CACNA1C):c.396_399del (p.Thr133fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2610590:TC:T,CACNA1C,VCV003393691,3393691,NM_000719.7(CACNA1C):c.3612del (p.Lys1205fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2486140:T:A,CACNA1C,VCV003392514,3392514,NM_000719.7(CACNA1C):c.794T>A (p.Met265Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2608641:G:A,CACNA1C,VCV003382973,3382973,NM_000719.7(CACNA1C):c.3487G>A (p.Gly1163Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2567731:T:C,CACNA1C,VCV003382740,3382740,NM_000719.7(CACNA1C):c.1832T>C (p.Met611Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2653855:CCTGAT:C,CACNA1C,VCV003377227,3377227,NM_000719.7(CACNA1C):c.4097_4101del (p.Leu1366fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2685745:C:A,CACNA1C,VCV003375805,3375805,NM_000719.7(CACNA1C):c.5583C>A (p.Tyr1861Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2664838:G:A,CACNA1C,VCV003370332,3370332,NM_000719.7(CACNA1C):c.4246G>A (p.Glu1416Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2448974:A:G,CACNA1C,VCV003252305,3252305,NM_000719.7(CACNA1C):c.478-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2595960:T:G,CACNA1C,VCV003069192,3069192,NM_000719.7(CACNA1C):c.2750T>G (p.Leu917Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2486134:A:T,CACNA1C,VCV003066281,3066281,NM_000719.7(CACNA1C):c.788A>T (p.Lys263Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2457680:C:G,CACNA1C,VCV003027509,3027509,NM_000719.7(CACNA1C):c.731C>G (p.Pro244Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2677138:C:T,CACNA1C,VCV002921274,2921274,NM_000719.7(CACNA1C):c.4873C>T (p.Gln1625Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2688546:C:T,CACNA1C,VCV002626971,2626971,NM_000719.7(CACNA1C):c.5884C>T (p.Arg1962Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2585498:T:G,CACNA1C,VCV002626927,2626927,NM_000719.7(CACNA1C):c.2460+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2504884:G:GT,CACNA1C,VCV002584438,2584438,NM_000719.7(CACNA1C):c.1158dup (p.Thr387fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2664824:G:A,CACNA1C,VCV002578446,2578446,NM_000719.7(CACNA1C):c.4233-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2486109:C:T,CACNA1C,VCV002577479,2577479,NM_000719.7(CACNA1C):c.763C>T (p.Gln255Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2653860:T:C,CACNA1C,VCV002575833,2575833,NM_000719.7(CACNA1C):c.4100T>C (p.Ile1367Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2120351:CTA:C,CACNA1C,VCV002506866,2506866,NM_000719.7(CACNA1C):c.400_401del (p.Ile134fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2486161:C:T,CACNA1C,VCV002504611,2504611,NM_000719.7(CACNA1C):c.815C>T (p.Ala272Val),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2512827:G:C,CACNA1C,VCV002504609,2504609,NM_000719.7(CACNA1C):c.1233G>C (p.Glu411Asp),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2582832:G:A,CACNA1C,VCV002501348,2501348,NM_000719.7(CACNA1C):c.2114G>A (p.Gly705Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2608677:CAGGA:C,CACNA1C,VCV002452672,2452672,NM_000719.7(CACNA1C):c.3524_3527del (p.Gln1175fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2679753:GC:G,CACNA1C,VCV002251969,2251969,NM_000719.7(CACNA1C):c.5403del (p.Ile1802fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2486116:T:C,CACNA1C,VCV001803055,1803055,NM_000719.7(CACNA1C):c.770T>C (p.Val257Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2677772:C:T,CACNA1C,VCV001744618,1744618,NM_000719.7(CACNA1C):c.4996C>T (p.Arg1666Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2688554:G:GC,CACNA1C,VCV001712194,1712194,NM_000719.7(CACNA1C):c.5897dup (p.Gln1967fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2655228:C:G,CACNA1C,VCV001705745,1705745,NM_000719.7(CACNA1C):c.4222C>G (p.Leu1408Val),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2581663:C:T,CACNA1C,VCV001705744,1705744,NM_000719.7(CACNA1C):c.1969C>T (p.Leu657Phe),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2665599:G:C,CACNA1C,VCV001700075,1700075,NM_000719.7(CACNA1C):c.4417G>C (p.Ala1473Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2634334:T:G,CACNA1C,VCV001699326,1699326,NM_000719.7(CACNA1C):c.3866T>G (p.Leu1289Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2504886:T:TA,CACNA1C,VCV001699036,1699036,NM_000719.7(CACNA1C):c.1159dup (p.Thr387fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2610588:C:G,CACNA1C,VCV001695801,1695801,NM_000719.7(CACNA1C):c.3606C>G (p.Tyr1202Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2567752:T:G,CACNA1C,VCV001685597,1685597,NM_000719.7(CACNA1C):c.1853T>G (p.Val618Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2449093:G:A,CACNA1C,VCV001685596,1685596,NM_000719.7(CACNA1C):c.595G>A (p.Asp199Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2504535:A:G,CACNA1C,VCV001344837,1344837,NM_001167623.2(CACNA1C):c.1213A>G (p.Ser405Gly),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2448994:T:C,CACNA1C,VCV001325838,1325838,NM_000719.7(CACNA1C):c.496T>C (p.Phe166Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2677868:G:A,CACNA1C,VCV001313855,1313855,NM_000719.7(CACNA1C):c.5091+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2608654:T:C,CACNA1C,VCV001309258,1309258,NM_000719.7(CACNA1C):c.3500T>C (p.Val1167Ala),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2608657:C:A,CACNA1C,VCV001303511,1303511,NM_000719.7(CACNA1C):c.3503C>A (p.Thr1168Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2504529:G:A,CACNA1C,VCV001302971,1302971,NM_001167623.2(CACNA1C):c.1207G>A (p.Val403Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2605121:C:T,CACNA1C,VCV001302480,1302480,NM_000719.7(CACNA1C):c.3001C>T (p.Arg1001Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2651679:C:T,CACNA1C,VCV001214422,1214422,NM_000719.7(CACNA1C):c.3985C>T (p.Arg1329Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2653847:G:T,CACNA1C,VCV001164022,1164022,NM_000719.7(CACNA1C):c.4087G>T (p.Val1363Leu),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2581667:T:C,CACNA1C,VCV000981247,981247,NM_000719.7(CACNA1C):c.1973T>C (p.Leu658Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2512849:G:C,CACNA1C,VCV000978295,978295,NM_000719.7(CACNA1C):c.1255G>C (p.Gly419Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2053592:TC:T,CACNA1C,VCV000978276,978276,NM_000719.7(CACNA1C):c.32del (p.Pro11fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2457671:T:C,CACNA1C,VCV000973262,973262,NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2493386:G:A,CACNA1C,VCV000802809,802809,NM_000719.7(CACNA1C):c.1113G>A (p.Trp371Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2665607:C:G,CACNA1C,VCV000633648,633648,NM_000719.7(CACNA1C):c.4425C>G (p.Ile1475Met),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2567644:C:A,CACNA1C,VCV000633647,633647,NM_000719.7(CACNA1C):c.1745C>A (p.Ala582Asp),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2653847:G:C,CACNA1C,VCV000522828,522828,NM_000719.7(CACNA1C):c.4087G>C (p.Val1363Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2566522:A:G,CACNA1C,VCV000521136,521136,NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2605097:G:C,CACNA1C,VCV000450908,450908,NM_000719.7(CACNA1C):c.2977G>C (p.Val993Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2653847:G:A,CACNA1C,VCV000450063,450063,NM_000719.7(CACNA1C):c.4087G>A (p.Val1363Met),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-12:2610700:G:GA,CACNA1C,VCV000432248,432248,NM_000719.7(CACNA1C):c.3717+1_3717+2insA,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
-7:82167142:AAGAAATATTGCACAGATGCACATTGTTAAATACCTTAAAAGATAAAAGAATTATAAAGTTTAAAAGAAGGACCTTTTGAAAGATGATAAAATTTATCTTCAAATTAACCATTTTTAAATGTTTGGTTAAAATATTGAGAAAATTTACAATTGTTTTGTGTGCTTTCACAAAACAAGAGATTTAATGTTAATGATTTATAAGTTTCAACCACGAATTTGAACTGTATTCTGCTCTGGTCTTGAAGGATTTATTTAACCTTGCTGTATCTGTGCACTAAAGCACCACCTAGTTTATTAGGAACAAAAAAAAAGCTGAGAGGAATGTATTATTTTTGTACTTTTTACTTATTTGAGTCTTAAGATTAGATAGTCTTCATTGAGGTTCTATTCTCCAAGCACAAAAACGACCACTATCTAAACCTTCTATCACTCTATGGCATTTCAAAGGGAAGGGCTATCATAAAGACTATGTATGGCTGCCAAGGTTAGATATGGGAAATAGCAATTCTCAATGTGCAAACTGTGACAGACCTGTGTCCTGTCAACATCATTCACGGTCCTTCAGGAAGGATGCTCAGGAAATGAGTTGACAGGACTCTAAGTGGTCTAACTTGTTTTCCCTTTAACAGTCTCTTTTGATGTCAATCAGTATGTCAACAGGCCCTAAATAAATTGTGAGGTAACCAAGGGGGAAATTAGGAACAGAATTTCTTCAAGAATTCTCCCACATGGTGACCACCATTTGCTAAGAATTCCTAATACTTACTGGGCAAATAATTCATTTTCTATTTCACCATAGAAGATTTAGTAATGGCTTTTGTATTATTGTGGGACTGATTTGTCCTCTTGCACAATGTTTTTTTAGCAGTACTGCTACTTGGATAGAGGCACCAAAAAAGTAGAAAATAAGGGTTACATTTCAAGATAATTTTTTTCACTTTTTGACATCTCTAAGAATACAGCATACAATTGCTGATGCATCATAATTTAAGTGGCTTTTTTGGTGGGGGCTTGGGGGAGATGAGGTCTCTCTCTGTTGCCCAGGCTGGAGTAGTACAGTGTCATGATCTTGGCTCACTGCACCCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTACCAAGTAGCTGGGATTACAGGCATGCACCACCACGCACAGCTAATTTTTGTATTTTTAGTGGAGATAGGGTTTCTCCATGTTGACAAGGCTGGTTTTGAACTTCTGGCCTAAAGTAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACCATGCCCGGCCAAGTGGCTTTTTCTTAGAAATAACTAAAATAAATAGAATGACTAAGTGCCTTACAATTGATGATTTACATTCAATAAAATATGGTAATAGCAAACTTGAATTTAGAGTTTTTGTATTGTGTTTGTGTTGTGGTTACCCATTACCTCAATATAGAAAACAAAATAATTGCCAAATGTTAGTGTTAATGAGCCCAATATTAAAGAGTTCACAATGTCTAGGAAATGAAACCTTATGTCTAGAAATTAATAAATAATAGTTAAATGAAACAACAATGATATAGGCATTACTACAACCCTACTTGCCAAGTTATTTTTTTCCACATTATTGCTCTTTAGAAAAGTGAAAACAACATACAACTAATAAATGACTACTTAAAATACTACCAAATGAATTTAAGGCAAAGAAAAAGGGTGCTTTGAACAGGGAATGTATAATCTATATATTTCAGAGGCTGAGTTTGTGTGTCTGTTTTGAGTTCTCCGAATTACTGAAGATTCAAACTAAAACAGCACCAAGGGTATTATATCTATGCTAGGCAGAATACATGATCTAGCCATACATCTATTATGACTTTACACTGCTTTTACCATGCACGCTTTATGTTGTGGGACATAAGGGAAGAGTAATTTATATTTAATGTTGTTAATCAAACATATATTTAGCTAGATTTGTTTTGCTGCTTTTTCCCTATTTGCAAAAACAAAAAAAATCGTTTTTATCTAAAAGCAACTAAGTATATTGTAAGCCTCTTCATTCACTAGATGAGCTTACAGTTTGCTCGATGCTCTAGGAGCTTATGTTTTTAGCTTAATCATTGATTTTTTCCTTAATATATCATGGATAGCAAATTGATCTTTATTAACCTGTGTATGATAAAGGTTGTAGACAAAGCCAATACCTACATAATATTAATACCAATCAAGTTAAGTGATATGATCAGTTCAGTAGAGAATCAAACAAACTGGCAGTTGTCAAATAGAGTCTCTCATTAGTAGACTGTTTAAAATATATAAATAAGTGATAAACAGTAAAAATAAATAATATCACAAGTATCAAGAATGGAAGACTATTATATACATGAATTAAATATCATTTAGTGCATTTTCCTTTGATATTCAACATAATCATAGAAACACAAAGAAGTGCTAATTCTTAAACCTCAGTTTAGTGTCTACTGAAGCACAACTACATACCTTCAAATTTGAGACTTTTGCTTTGCAAAGAGTACAATTAAGCTGTCGCTCACATTCTAAACCTATTTTAAATGTGGGAAGGTAGAGGGCAGTTGTTTACATCCCCAAAATGAGTTGTCTGGAAGTTTTCTGTGATCAGAAATTATAAAGATTTTCTTTCACTACAACTGTAATCACTCAAGTATGTAACAGAAGTACTTTCTGATTATTAAGGAATTTTTTTTTTTTTACTGTGCCCCTTGGCTATAAGAGGATAGATAAATGATAGATATGCAGACCTTACCACAAGGAGAATTTCTGCTATTTCTATAAACTAGTAACTCTTAGTTCATAAAACAAGTTTATTAAGAAAAAAAAAACATGCAACCGCTAATGTCAGCTGACATTTCTCAAAGTAGGCCAGAGTAGAAGAGAGATTACTTCTAGCTAAAGTGAAGCAAATTAAATTTTAAGAAGTTGAATATATTCATTCTCACTTTCATCATATTGCCCACCATCAAGGTGATTATAATATGTATACTGCTTCTTACAAACTCAAAGTAGTTAAAAGCAACTTTTTCCAACTTGTATATTCATAATATCGACAAAAATTATTCAGATATTAAAATTTAATGCTATTTTTAATGTATTTTATAAATAATGTACCTTTAATTATGGGAGAACATTTCAAGGGTTTTAAAGGGTTTTTTGGTTTTTGTTTTTTTTTGGTAATATGGAACATAAAGTACATTTTGGCTAACTTAATTGGCCCTGATTACCCAAAAGCAATTTATTTAAAAAGCAACAAGTATGATTATTTTTAATCCCACAACATCATAAGATTCCATCATTAAAATATATTTTAATATGCATGTAATTATCCATACACAATATGTCAAGCTATTTAAATCAAGTAGTTAAAAGGGGTTCTTACTGCAAAATCTTCTCTCCACTGGTGAGCTGCTTGAACTTTCTCCGCTTCCAATGCCAGGCGCTGAAAAACAAACAATAAATCTTAGAATTCAAATGAACACGTAATATGGAATTGTTATATAAAATGCTTGCGCTTTCTAATCAATTTTGAGGACATAAAAAGCAGAAGATGATCCTTATTTATGATTCATAAATTCTAAATCATTTAGTAATCTAACCTACTAAAGTTGATGTTTGTATATTTACTCTTCAGCAATATAAATAATATACTATTCTTGAATACCATTAAGTTTGTTACCTCTGCCATCATCAGCTATAGTGTCCTCTATGAGTGCTTTCTTTCAATGACTAATACTTCAGTTTTTAGAAAAACACTTAAGTATACTAATTTTCATAGAATCTTATTTTTAGTAAATACCTTTGGAGCATACATTTCTCTTAAAAAATGACATTGAGAGATTAATATGCACTAAACAATATACTAGGCACCTTCTTAAATGCATATTGAGTTTTTACCAAAAGCCACAAAAGCTGAAATAACTTCCCCTTTGATGAAGTACATCTTTAGTAGTTCTTTCAGCGATAATCTTTGATAGAGGATTTGTGCATCTTAAAATTGCTTTATTTCACCTTCAATCGTGTATGCTAAAGTAGTTAAGAATTATAAGCCAATTTATTTTCCTATAGCACTTTCGAAATGCTATTCCATTAAGTTCAGTGGGAGATGACATTGCTAGTGTCAGCCTGCCAATCACTTTTTATAAACTTTTTTTTCCCCTATTCCAATAGCTTTTAGACTTTTCTCTTTGTATTTTTCAACTTCACTATGATGTTCTCCATGTGATAGGCTTTCATAAGACAGTGACATTTAATGGTTAGGAACACAGAGTTGGGGACCCGACTGCCTAGATTTGAATATCAGCCCTTGCAAACTACTAGCTGTGCAACCTTGGGAAAAGTTAAGACTCTTCTCCCATTCTCTCATGTGAGTAATGTGAAAGCCTGCCTCATGGCTTATTGGAAGGACTAAATGAGTTACAAAGTGCTTAGAACAGTGCCTGGCACAAACTAAACAATATATATGTCAACTATCAACTTCAAAGAGTAATGGTTCTGTTTTCTCCCTGGATCCCCTAGAGAAAATAGTGCAGTGTTGAGTTTATTTGTGGTTTGCCTTATGCAGCTAGAAGATAGTGATAAAACTGAGCAAACAGAAAAGTAAATATAATAAATATACTAAACTCACTTATTAAGGTATAGAAATTATCAGGTTAGGTTTAAAAAATTACAAATCTCAGAGTCATTTATTGATTCATGCTGTTTGTGATCTATGAACTATTCCTTAGCGTAAGTTCTTCCTGTGGAGGTCCAGTCTACACTGGATAAACATCCTTCTAGACCAGTTTTTATATTAATGTATTGGCTTCTATCCCTGTGATTATAATCTATTCATTTTTCTAAGCTGTTGCATAGGTTTTATCAGTGACTCTATAATATTGCCTAGTGGGAGATCTCAATTTAAGAGTCCCAAAGCTAAATTTAAGTGAAAATCTATCATAGTGTGCCAAAAGGACAATGGTTTTGTTTTTCACTACTAGGTAGAAATGGAGTATATAAGAAGCTAGGAAATGTTAGAAATTGTACCACATAGAGTAACCAAAAGGCGGCTCCCTCTCCCTACAAAAACAAAAAACTAAGCAGCAAAGCCAAAAGACAAGCATATACATTTCAGGAACACTGCATCATAATACTTTTAGAAACTCAACTTCACATGAAAAATGAAGCAAAACATGAATAAAATGGCAAAAGGAATGGAAATGGAAGCAACTCTTCTATAGAAACACTTCAGTATGGGAAGATAAGGAAAGAGAAGATAGAATGAGAAAATAAGCATGAAGGCTTTTTCTTTTTTTCTTTGTTTTGATATAGGGTCTCACTCTGTCTCCCAGCCTGGAGTACAGTGGTGCAATCATAGCTCCCTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCTAAGTAGCTGGGACTACAGGTTTGCATCAAGAAACCCGGCTTTTTTTTTTTTTTTTTTTTTTTTGGTAAAGATGGGGTCTCAAACTCCTAGCCTCAAATTATCCTCCTATCTC:A,CACNA2D1,VCV004277370,4277370,NM_000722.4(CACNA2D1):c.295-2080_354+3407del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada,gene_context_fallback,1,-0.0,Brugada,provocation_dependent,0.8,limited,0.25,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:82084801:C:T,CACNA2D1,VCV001802181,1802181,NM_000722.4(CACNA2D1):c.626G>A (p.Gly209Asp),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,Brugada,gene_context_fallback,1,-0.0,Brugada,provocation_dependent,0.8,limited,0.25,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:82060485:T:TGTTC,CACNA2D1,VCV001802179,1802179,NM_000722.4(CACNA2D1):c.818_821dup (p.Ser275fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,,,,representation_repairable,0.45,Brugada,gene_context_fallback,1,-0.0,Brugada,provocation_dependent,0.8,limited,0.25,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
-7:91993050:C:T,AKAP9,VCV004687971,4687971,NM_005751.5(AKAP9):c.571C>T (p.Gln191Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,limited,0.25,dominant,scaffolding,False,False,False,0.0,False,2.5e-05,,False,False,False
+variant_key,gene,clinvar_id,variation_id,title,clinsig,review_status,review_strength,review_score,submitter_count,submitter_count_source,match_category,frequency_evidence_status,variant_type,functional_class,global_af,global_ac,global_an,popmax_af,popmax_ac,popmax_population,popmax_global_ratio,max_frequency_signal,max_frequency_source,qualifying_frequency_ac,standard_acmg_frequency_flag,standard_acmg_high_frequency_flag,popmax_only_frequency_flag,frequency_signal_ac_ge_20,weak_review_signal,gene_frequency_constraint_proxy,technical_detectability_index,frequency_pressure_score,ac_reliability_score,popmax_enrichment_score,variant_type_tension_score,technical_detectability_score,gene_constraint_score,review_fragility_score,vital_score,vital_band,vital_red_flag,predicted_revision_direction,vital_signal_reason,variation_id_key,vcv_key,condition_from_variation_id,condition_from_vcv,condition_labels,condition_label_join_source,log10_global_af,log10_popmax_af,log10_popmax_global_ratio,allele_anchoring_state,allele_identity_score,condition_groups,condition_context_source,condition_count,condition_entropy,condition_group_primary,phenotype_environment,phenotype_detectability_score,curation_tier,gene_disease_validity_score,inheritance_model,mechanism_class,sads_gene_context_flag,collision_prone_gene_flag,sads_label_flag,sads_relevance_score,ancestry_concentrated_flag,max_credible_af,af_boundary_distance,penetrance_boundary_flag,hard_dominant_conflict_flag,disease_model_collision_flag
+3:38562456:G:A,SCN5A,VCV000440850,440850,NM_000335.4(SCN5A):c.[3919C>T;694G>A],Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,other_or_unresolved,0.0001464876505434,214.0,1460874.0,0.0056763862332695,190.0,afr,38.74992993923283,0.0056763862332695,popmax,214.0,True,True,False,True,True,0.6637931034482759,0.811340206185567,45.0,20.0,7.941354608142989,0.0,6.490721649484536,6.637931034482759,10.0,96.07000729211028,red_reclassification_priority,True,P/LP_to_VUS_or_B_review_recommended,popmax_AF_gt_1e-4; global_AF_gt_1e-5; AC_ge_20; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,440850,440850,,,,unmatched,-3.8341989864151462,-2.24592806189834,1.5882709216285977,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,1.75407193810166,False,True,True
+6:123438063:CT:C,TRDN,VCV001325231,1325231,NM_006073.4(TRDN):c.1050del (p.Glu351fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.774748677138568e-05,40.0,1441572.0,0.0002182135583357,9.0,amr,7.864263645544536,0.0002182135583357,popmax,40.0,True,True,False,True,True,0.390625,0.6043553875236295,30.124838998003188,20.0,4.478290322877946,3.0,4.834843100189036,3.90625,8.0,74.34422242107016,red_reclassification_priority,True,P/LP_to_VUS_or_B_review_recommended,popmax_AF_gt_1e-4; global_AF_gt_1e-5; AC_ge_20; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,1325231,1325231,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,-4.556776346982672,-3.6611182687456405,0.8956580645755892,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-0.6611182687456405,True,False,True
+7:150950166:A:C,KCNH2,VCV004535537,4535537,NM_000238.4(KCNH2):c.2398+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.367018818211924e-05,24.0,549574.0,0.0001315270288044,2.0,asj,3.0118264259375755,0.0001315270288044,popmax,24.0,True,True,False,True,True,0.8263888888888888,0.811340206185567,25.177837788340284,20.0,2.3941496974878667,0.0,6.490721649484536,8.26388888888889,8.0,70.32659802420157,red_reclassification_priority,True,P/LP_to_VUS_or_B_review_recommended,popmax_AF_gt_1e-4; global_AF_gt_1e-5; AC_ge_20; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,4535537,4535537,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-4.3598149366273224,-3.880984990486817,0.47882993949757335,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,0.7210750008411452,True,False,False
+10:18514531:G:T,CACNB2,VCV003774534,3774534,NM_201596.3(CACNB2):c.804+162G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,1.1632028310988434e-05,17.0,1461482.0,0.0001970877388239,17.0,sas,16.943538788860945,0.0001970877388239,popmax,17.0,True,True,False,False,True,0.25,0.811340206185567,29.129841204685352,18.987357242520268,6.145020606115558,0.0,6.490721649484536,2.5,8.0,71.25294070280572,orange_high_tension,False,,popmax_AF_gt_1e-4; global_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.25; detectability=0.81,3774534,3774534,Brugada syndrome 4,Brugada syndrome 4,Brugada syndrome 4,variation_id,-4.934344549462075,-3.7053403931064324,1.2290041212231118,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,limited,0.25,dominant,channelopathy,True,False,False,0.5,True,0.0001,0.2946596068935677,True,False,False
+6:123547340:CT:C,TRDN,VCV001074440,1074440,NM_006073.4(TRDN):c.423del (p.Glu142fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.4587780046988007e-05,19.0,1302460.0,0.0001336541031809,3.0,amr,9.162058557802116,0.0001336541031809,popmax,19.0,True,True,False,False,False,0.390625,0.6043553875236295,25.33460173620717,19.67948888426708,4.809965315856219,3.0,4.834843100189036,3.90625,3.0,64.5651490365195,yellow_watchlist,False,,popmax_AF_gt_1e-4; global_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,1074440,1074440,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia,variation_id,-4.8360107935553724,-3.874017703862406,0.9619930631712437,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-0.8740177038624062,True,False,True
+1:115701413:C:T,CASQ2,VCV002565185,2565185,NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.425131422292673e-06,5.0,1459798.0,0.0001495662578522,5.0,afr,43.667292358899566,0.0001495662578522,popmax,5.0,True,True,True,False,False,0.5125,0.811340206185567,26.43375668955885,11.770381108229664,8.200781319116079,0.0,6.490721649484536,5.125,3.0,61.02064076638913,yellow_watchlist,False,,popmax_AF_gt_1e-4; type=SNV; gene_constraint=0.51; detectability=0.81,2565185,2565185,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.46532275997258,-3.8251663722566325,1.6401562638232159,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-0.8251663722566326,True,False,True
+7:150950197:A:G,KCNH2,VCV001027323,1027323,NM_000238.4(KCNH2):c.2369T>C (p.Leu790Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,7.213041178450639e-06,9.0,1247740.0,0.0002143163309044,1.0,mid,29.71233587745845,0.0002143163309044,popmax,1.0,True,True,True,False,False,0.8263888888888888,0.811340206185567,29.94874352029472,4.55340497393906,7.364683979114753,0.0,6.490721649484536,8.26388888888889,3.0,59.62144301172195,yellow_watchlist,False,,popmax_AF_gt_1e-4; type=SNV; gene_constraint=0.83; detectability=0.81,1027323,1027323,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,variation_id,-5.141881588463915,-3.668944734457764,1.4729367958229507,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,0.33105526554223597,True,False,False
+6:123529317:C:T,TRDN,VCV002635811,2635811,NM_006073.4(TRDN):c.484+1189G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,5.012186774127951e-06,7.0,1396596.0,0.000112101339611,4.0,amr,22.36575037943466,0.000112101339611,popmax,4.0,True,True,True,False,True,0.390625,0.811340206185567,23.616243142180487,10.57267893638896,6.747917367491054,0.0,6.490721649484536,3.90625,8.0,59.33381109554504,yellow_watchlist,False,,popmax_AF_gt_1e-4; weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,2635811,2635811,TRDN-related disorder,TRDN-related disorder,TRDN-related disorder,variation_id,-5.299972753826775,-3.950389197554991,1.3495834734982108,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,True,0.001,-0.9503891975549911,True,False,True
+7:150948439:CTCA:C,KCNH2,VCV003076015,3076015,NM_000238.4(KCNH2):c.2692+2_2692+4del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,2.7727944499746288e-06,4.0,1442588.0,6.611424541607899e-05,3.0,fin,23.84389602799007,6.611424541607899e-05,popmax,3.0,True,False,True,False,True,0.8263888888888888,0.6043553875236295,18.456638672735043,9.10680994787812,6.886886097038535,3.0,4.834843100189036,8.26388888888889,8.0,58.54906670672962,yellow_watchlist,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3076015,3076015,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,-5.557082323913123,-4.179704954447291,1.377377219407707,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.17970495444729126,True,False,False
+1:115705205:TC:T,CASQ2,VCV001766367,1766367,NM_001232.4(CASQ2):c.925del (p.Asp309fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.84958717538094e-07,1.0,1459942.0,0.0001734906315058,1.0,mid,253.28589121907208,0.0001734906315058,popmax,1.0,True,True,True,False,False,0.5125,0.6043553875236295,27.88371068312418,4.55340497393906,10.0,3.0,4.834843100189036,5.125,3.0,58.39695875725227,yellow_watchlist,False,,popmax_AF_gt_1e-4; type=deletion; gene_constraint=0.51; detectability=0.60,1766367,1766367,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.164335602647249,-3.760723972142199,2.403610998964032,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-0.7607239721421987,True,False,True
+11:2587679:AG:A,KCNQ1,VCV001395670,1395670,NM_000218.3(KCNQ1):c.1239del (p.Lys414fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.737022748764577e-06,4.0,1461442.0,8.944543828264758e-05,4.0,amr,32.67981847911294,8.944543828264758e-05,popmax,4.0,True,False,True,False,False,0.6403508771929824,0.6043553875236295,21.41005952936268,10.57267893638896,7.571398177836384,3.0,4.834843100189036,6.4035087719298245,3.0,56.79248851570687,yellow_watchlist,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.64; detectability=0.60,1395670,1395670,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,-5.562721592936289,-4.048441803550404,1.5142796355672767,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.048441803550404505,True,False,True
+6:123516188:TC:T,TRDN,VCV002682850,2682850,NM_006073.4(TRDN):c.502del (p.Glu168fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.751489341268484e-06,5.0,1332804.0,6.617783307303386e-05,5.0,sas,17.64041169053291,6.617783307303386e-05,popmax,5.0,True,False,True,False,True,0.390625,0.6043553875236295,18.46603235431506,11.770381108229664,6.232543582221728,3.0,4.834843100189036,3.90625,8.0,56.21005014495549,yellow_watchlist,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,2682850,2682850,,,,unmatched,-5.425796283129546,-4.179287457481868,1.2465087164443456,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.1792874574818677,False,False,True
+6:123516150:C:A,TRDN,VCV001427034,1427034,NM_006073.4(TRDN):c.541G>T (p.Glu181Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.79663424697027e-05,91.0,1338898.0,8.552347090760583e-05,89.0,nfe,1.2583209209383106,8.552347090760583e-05,popmax,91.0,True,False,False,True,False,0.390625,0.811340206185567,20.9719197711187,20.0,0.4989570863816855,0.0,6.490721649484536,3.90625,3.0,54.86784850698492,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.39; detectability=0.81,1427034,1427034,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,-4.167706100505352,-4.067914681917243,0.0997914172763371,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.0679146819172425,False,False,True
+3:38580945:C:A,SCN5A,VCV003075756,3075756,NM_000335.5(SCN5A):c.3214G>T (p.Glu1072Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.068392073370004e-06,3.0,1450402.0,6.006366748753679e-05,2.0,afr,29.03880759457191,6.006366748753679e-05,popmax,2.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,17.518766713295044,7.216976134290603,7.314893895930626,0.0,6.490721649484536,6.637931034482759,8.0,53.17928942748357,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3075756,3075756,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,-5.684367135229046,-4.221388153306345,1.4629787791861253,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,True,0.0001,-0.2213881533063446,True,False,True
+6:123636725:T:C,TRDN,VCV001070395,1070395,NM_006073.4(TRDN):c.22+29A>G,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,5.278376069899409e-05,77.0,1458782.0,6.756756756756757e-05,75.0,nfe,1.2800824797762609,6.756756756756757e-05,popmax,77.0,True,False,False,True,False,0.390625,0.811340206185567,18.66911154823352,20.0,0.5361897676051981,0.0,6.490721649484536,3.90625,3.0,52.60227296532325,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.39; detectability=0.81,1070395,1070395,Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-4.277499670716243,-4.1702617153949575,0.10723795352103971,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.1702617153949573,False,False,True
+1:115768378:T:C,CASQ2,VCV000427946,427946,NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,3.078341745187184e-05,45.0,1461826.0,4.9675453702477146e-05,3.0,remaining,1.6137081974876168,4.9675453702477146e-05,popmax,45.0,True,False,False,True,False,0.5125,0.811340206185567,15.663191649724624,20.0,1.0391250259135152,0.0,6.490721649484536,5.125,3.0,51.31803832512267,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.51; detectability=0.81,427946,427946,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-4.5116831681918965,-4.303858157643766,0.20782500518270305,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.3038581576437651,False,False,True
+11:2768920:G:A,KCNQ1,VCV000871731,871731,NM_000218.3(KCNQ1):c.1590+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.053657975586114e-06,3.0,1460808.0,6.709308046696784e-05,3.0,amr,32.6700208089902,6.709308046696784e-05,popmax,3.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,18.600249121064188,9.10680994787812,7.570747055485044,0.0,6.490721649484536,6.4035087719298245,3.0,51.172036545841706,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,871731,871731,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,-5.687471883856611,-4.17332226775905,1.5141494110970088,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.17332226775905044,True,False,True
+6:123636745:TAGCAATACCTTC:T,TRDN,VCV002051520,2051520,NM_006073.4(TRDN):c.19_22+8del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,1.3703867642564762e-06,2.0,1459442.0,5.052801778586226e-05,2.0,eas,36.871329490654766,5.052801778586226e-05,popmax,2.0,True,False,True,False,True,0.390625,0.6043553875236295,15.829476070387653,7.216976134290603,7.833443987467161,3.0,4.834843100189036,3.90625,8.0,50.62098929233445,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,2051520,2051520,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.863156844612114,-4.296467738800115,1.5666887974934323,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.2964677388001153,False,False,True
+12:2651596:CT:C,CACNA1C,VCV002632714,2632714,NM_000719.7(CACNA1C):c.3946-43del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,2.0525170701003e-06,3.0,1461620.0,3.747423646243208e-05,2.0,fin,18.257689424678656,3.747423646243208e-05,popmax,2.0,True,False,True,False,True,0.7307692307692307,0.6043553875236295,12.908988100114692,7.216976134290603,6.307229075847438,3.0,4.834843100189036,7.3076923076923075,8.0,49.57572871813407,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.73; detectability=0.60,2632714,2632714,CACNA1C-related disorder,CACNA1C-related disorder,CACNA1C-related disorder,variation_id,-5.687713222311061,-4.426267207139606,1.2614458151694876,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,True,0.0001,-0.42626720713960625,True,False,True
+1:115705191:C:A,CASQ2,VCV000519365,519365,NM_001232.4(CASQ2):c.939+1G>T,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.1733855056306896e-05,46.0,1449556.0,4.178991663820107e-05,46.0,nfe,1.316887477023001,4.178991663820107e-05,popmax,46.0,True,False,False,True,False,0.5125,0.811340206185567,13.974109092309089,20.0,0.5977433387582941,0.0,6.490721649484536,5.125,3.0,49.18757408055192,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.51; detectability=0.81,519365,519365,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,variation_id,-4.498477166223447,-4.37892849517859,0.11954866775165883,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.3789284951785896,False,False,True
+1:115705294:T:C,CASQ2,VCV001523438,1523438,NM_001232.4(CASQ2):c.839-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3783198556623447e-06,2.0,1451042.0,4.473272198613286e-05,2.0,amr,32.45450636719618,4.473272198613286e-05,popmax,2.0,True,False,True,False,True,0.5125,0.811340206185567,14.639070048853554,7.216976134290603,7.556375039507466,0.0,6.490721649484536,5.125,8.0,49.02814287213616,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,1523438,1523438,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.860649987486544,-4.349374674204051,1.5112750079014932,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.3493746742040507,False,False,True
+3:38608210:AT:A,SCN5A,VCV004756593,4756593,NM_000335.5(SCN5A):c.938del (p.Asn313fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.876056334154334e-07,1.0,1454322.0,3.8337678270203954e-05,1.0,asj,55.75524930551588,3.8337678270203954e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.6043553875236295,13.13158094533609,4.55340497393906,8.731428810358667,3.0,4.834843100189036,6.637931034482759,8.0,48.88918886430561,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,4756593,4756593,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,-6.162660573882579,-4.4163741915354215,1.7462857620717334,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,True,0.0001,-0.41637419153542204,True,False,True
+1:115768444:C:T,CASQ2,VCV000862119,862119,NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.0267488613355128e-05,15.0,1460922.0,3.827311696264544e-05,1.0,asj,3.727602306299179,3.827311696264544e-05,popmax,15.0,True,False,False,False,False,0.5125,0.811340206185567,13.115111488979696,18.21361989575624,2.857147858816272,0.0,6.490721649484536,5.125,3.0,48.80160089303674,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,862119,862119,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,variation_id,-4.9885357701066235,-4.417106167392593,0.5714295717632544,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.4171061673925929,False,False,True
+11:2570686:G:C,KCNQ1,VCV000378906,378906,NM_000218.3(KCNQ1):c.536G>C (p.Gly179Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.054848002893226e-06,3.0,1459962.0,3.8743171516020304e-05,2.0,fin,18.854510701988296,3.8743171516020304e-05,popmax,2.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,13.234391558868406,7.216976134290603,6.377076332028593,0.0,6.490721649484536,6.4035087719298245,8.0,47.72267444660197,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,378906,378906,,,,unmatched,-5.687220297362662,-4.411804830815424,1.2754152664057186,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.41180483081542335,True,False,False
+11:2445144:GGT:G,KCNQ1,VCV002744490,2744490,NM_000218.3(KCNQ1):c.47_48del (p.Gly16fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.0193098049448758e-06,1.0,981056.0,3.807493146512336e-05,1.0,sas,37.35360429852644,3.807493146512336e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,13.064380687913092,4.55340497393906,7.861662569102269,3.0,4.834843100189036,6.4035087719298245,8.0,47.71780010307328,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,2744490,2744490,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.991693798202426,-4.419360869721284,1.5723325138204538,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.4193608697212837,True,False,False
+4:113355492:C:T,ANK2,VCV004081881,4081881,NM_001148.6(ANK2):c.6874C>T (p.Arg2292Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,LOF,1.3682492293336216e-06,2.0,1461722.0,3.8267258533598655e-05,1.0,asj,27.96802712924517,3.8267258533598655e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,13.113615641202188,4.55340497393906,7.233309161120902,0.0,6.490721649484536,6.136363636363637,10.0,47.52741506211032,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,4081881,4081881,,,,unmatched,-5.863834787801755,-4.4171726495177746,1.4466618322241802,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.41717264951777494,True,False,True
+1:115740767:G:A,CASQ2,VCV000801535,801535,NM_001232.4(CASQ2):c.381C>T (p.Gly127=),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,other_or_unresolved,8.897357347985227e-06,13.0,1461108.0,6.707807888382076e-05,3.0,amr,7.5391006251884125,6.707807888382076e-05,popmax,3.0,True,False,True,False,False,0.5125,0.811340206185567,18.59806400383485,9.10680994787812,4.386597699630847,0.0,6.490721649484536,5.125,3.0,46.70719330082835,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,801535,801535,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.050738966345133,-4.173419384081802,0.8773195399261694,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.1734193840818021,False,False,True
+6:123571097:T:TAAAA,TRDN,VCV001749169,1749169,NM_006073.4(TRDN):c.57_58insTTTT (p.Lys20delinsPheTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,1.573551204040332e-05,23.0,1461662.0,2.9870362626202283e-05,1.0,afr,1.898277072346201,2.9870362626202283e-05,popmax,23.0,True,False,False,True,False,0.390625,0.5866666666666666,10.692911463985178,20.0,1.391798011501853,3.0,4.6933333333333325,3.90625,3.0,46.684292808820366,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=insertion; gene_constraint=0.39; detectability=0.59,1749169,1749169,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-4.8031191203895585,-4.524759505028858,0.2783596023003706,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.524759505028858,False,False,True
+15:73343470:C:T,HCN4,VCV001514023,1514023,NM_005477.3(HCN4):c.1124G>A (p.Arg375His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0521436008006096e-06,3.0,1461886.0,3.744056310606911e-05,2.0,fin,18.24460327574495,3.744056310606911e-05,popmax,2.0,True,False,True,False,True,0.5,0.811340206185567,12.900203628834737,7.216976134290603,6.305672120901788,0.0,6.490721649484536,5.0,8.0,45.91357353351166,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,1514023,1514023,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id,-5.687792252306214,-4.426657628095805,1.2611344241803575,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,True,0.0001,-0.4266576280958051,True,False,False
+7:150947326:A:G,KCNH2,VCV000373047,373047,NM_000238.4(KCNH2):c.3152+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.203770165153635e-07,1.0,1388162.0,2.8064660978895374e-05,1.0,amr,38.95824322159453,2.8064660978895374e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.811340206185567,10.083595855158398,4.55340497393906,7.952996823120984,0.0,6.490721649484536,8.26388888888889,8.0,45.34460819059187,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,373047,373047,,,,unmatched,-6.1424401517100575,-4.551840199689963,1.590599364624197,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.551840199689963,True,False,False
+3:38575364:T:TG,SCN5A,VCV000924057,924057,NM_000335.5(SCN5A):c.3595dup (p.His1199fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.851933821282381e-07,1.0,1459442.0,3.832592365476008e-05,1.0,asj,55.9343824970053,3.832592365476008e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.382680412371134,13.128584433326132,4.55340497393906,8.738394239650557,6.0,3.0614432989690723,6.637931034482759,3.0,45.11975798036759,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.66; detectability=0.38,924057,924057,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,-6.164186840276095,-4.41650736985045,1.7476788479301115,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,True,0.0001,-0.41650736985045006,True,False,True
+11:2572072:G:GGA,KCNQ1,VCV001455898,1455898,NM_000218.3(KCNQ1):c.745_746dup (p.Leu250fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.84671706763324e-07,1.0,1460554.0,3.828190797029324e-05,1.0,asj,55.91271361066016,3.828190797029324e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.382680412371134,13.117355690081434,4.55340497393906,8.737552851879759,6.0,3.0614432989690723,6.4035087719298245,3.0,44.87326558679914,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.64; detectability=0.38,1455898,1455898,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,-6.16451761846019,-4.417006425118799,1.747510570375952,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.41700642511879876,True,False,True
+3:38608150:C:A,SCN5A,VCV002452890,2452890,NM_000335.5(SCN5A):c.998+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.903779266846257e-07,1.0,1448482.0,3.0111412225233363e-05,1.0,afr,43.61577687464475,3.0111412225233363e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,10.77145062355202,4.55340497393906,8.198218062193659,0.0,6.490721649484536,6.637931034482759,8.0,44.65172634365204,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2452890,2452890,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-6.160913102681482,-4.521268875598385,1.6396436124387317,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.5212688755983852,True,False,True
+6:123512325:T:TG,TRDN,VCV003673082,3673082,NM_006073.4(TRDN):c.587dup (p.Glu197fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.1833916893360138e-05,16.0,1352046.0,1.5570594154409688e-05,16.0,nfe,1.3157599448231894,1.5570594154409688e-05,popmax,16.0,True,False,False,False,True,0.390625,0.382680412371134,4.3268672904939125,18.61187363214038,0.5958833060079006,6.0,3.0614432989690723,3.90625,8.0,44.50231752761127,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,3673082,3673082,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-4.92687148498987,-4.807694814981124,0.11917666120158012,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.8076948149811245,False,False,True
+11:2572900:T:A,KCNQ1,VCV000375594,375594,NM_000218.3(KCNQ1):c.835T>A (p.Phe279Ile),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,1.3684626827068738e-06,2.0,1461494.0,2.3186792802819512e-05,2.0,sas,16.943667629494662,2.3186792802819512e-05,popmax,2.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,8.217915747967623,7.216976134290603,6.145037118180784,0.0,6.490721649484536,6.4035087719298245,10.0,44.47415942185337,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,375594,375594,Short QT syndrome type 2,Short QT syndrome type 2,Short QT syndrome type 2,variation_id,-5.863767041085759,-4.63475931882058,1.2290074236361568,anchored_exact,1.0,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6347593188205799,True,False,False
+7:150947380:GCCGC:G,KCNH2,VCV001454593,1454593,NM_000238.4(KCNH2):c.3096_3099del (p.Arg1033fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.432334375595314e-06,2.0,1396322.0,3.980891719745223e-05,1.0,asj,27.793014733652488,3.980891719745223e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,13.499558456497171,4.55340497393906,7.219678288254904,3.0,4.834843100189036,8.26388888888889,3.0,44.37137370776905,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,1454593,1454593,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.843955585014026,-4.400019635065158,1.443935657650981,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.40001963506515853,True,False,False
+4:113373174:G:T,ANK2,VCV003023363,3023363,NM_001148.6(ANK2):c.11694+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.843090668214118e-07,1.0,1461328.0,2.988464526926065e-05,1.0,afr,43.6712065454092,2.988464526926065e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,10.697582692286032,4.55340497393906,8.200975953741672,0.0,6.490721649484536,6.136363636363637,8.0,44.07904890581493,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3023363,3023363,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.1647477057374,-4.524551894875205,1.6401951907483345,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.5245518948752048,True,False,True
+6:123516183:C:CT,TRDN,VCV002980846,2980846,NM_006073.4(TRDN):c.507dup (p.Gly170fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.506995472985599e-06,2.0,1327144.0,2.676874481355569e-05,2.0,sas,17.762978409977666,2.676874481355569e-05,popmax,2.0,True,False,True,False,True,0.390625,0.382680412371134,9.621630535950798,7.216976134290603,6.247578939692527,6.0,3.0614432989690723,3.90625,8.0,44.053878908903,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,2980846,2980846,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.821888052304033,-4.5723719924039035,1.2495157879385055,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.5723719924039032,False,False,True
+7:150948445:CTTGT:C,KCNH2,VCV003076018,3076018,NM_000238.4(KCNH2):c.2687_2690del (p.Asp896fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3790573591327384e-06,2.0,1450266.0,2.520923666431381e-05,1.0,eas,18.280036879778883,2.520923666431381e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.6043553875236295,9.035093534989963,4.55340497393906,6.309885337915842,3.0,4.834843100189036,8.26388888888889,8.0,43.99711583592279,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3076018,3076018,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,-5.860417669838094,-4.598440304561373,1.2619770675831685,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5984403045613724,True,False,False
+11:2587636:GC:G,KCNQ1,VCV003720989,3720989,NM_000218.3(KCNQ1):c.1201del (p.Arg401fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.368365309750013e-06,2.0,1461598.0,2.31862551879246e-05,2.0,sas,16.94448045286974,2.31862551879246e-05,popmax,2.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,8.217689177940336,7.216976134290603,6.145141285781141,3.0,4.834843100189036,6.4035087719298245,8.0,43.81815847013094,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,3720989,3720989,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.863797944407404,-4.634769388600005,1.229028257156228,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6347693886000046,True,False,False
+6:123516189:C:A,TRDN,VCV000838068,838068,NM_006073.4(TRDN):c.502G>T (p.Glu168Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.0270178963157825e-05,27.0,1332006.0,2.603458550047152e-05,27.0,nfe,1.2843786561239623,2.603458550047152e-05,popmax,27.0,True,False,False,True,False,0.390625,0.811340206185567,9.349890396693658,20.0,0.5434653991227222,0.0,6.490721649484536,3.90625,3.0,43.29032744530092,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.39; detectability=0.81,838068,838068,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,-4.693142416952339,-4.584449332383948,0.10869307982454435,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.584449332383948,False,False,True
+12:2593260:C:T,CACNA1C,VCV004055971,4055971,NM_000719.7(CACNA1C):c.2578C>T (p.Arg860Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842753524018065e-07,1.0,1461400.0,3.827018752391887e-05,1.0,asj,55.92797177571708,3.827018752391887e-05,popmax,1.0,True,False,True,False,False,0.7307692307692307,0.811340206185567,13.114363536467756,4.55340497393906,8.738145349762476,0.0,6.490721649484536,7.3076923076923075,3.0,43.20432781734613,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.73; detectability=0.81,4055971,4055971,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164769103009198,-4.4171394097273255,1.7476290699524952,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,True,0.0001,-0.4171394097273256,True,False,True
+3:38566555:G:A,SCN5A,VCV000440848,440848,NM_198056.2(SCN5A):c.[3694C>T;4859C>T],Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,other_or_unresolved,3.4209226365187595e-06,5.0,1461594.0,2.9870362626202283e-05,1.0,afr,8.731666298344887,2.9870362626202283e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,10.692911463985178,4.55340497393906,4.705485648723811,0.0,6.490721649484536,6.637931034482759,10.0,43.08045477061535,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,440848,440848,,,,unmatched,-5.465856747186733,-4.524759505028858,0.9410971297447622,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,0.07730048629910428,True,False,True
+7:150952752:C:T,KCNH2,VCV003381030,3381030,NM_000238.4(KCNH2):c.1230G>A (p.Trp410Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840469310918484e-07,1.0,1461888.0,2.235935962794025e-05,1.0,amr,32.686833205169094,2.235935962794025e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.811340206185567,7.86283606399323,4.55340497393906,7.571864234571959,0.0,6.490721649484536,8.26388888888889,8.0,42.74271581087767,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3381030,3381030,,,,unmatched,-6.164914101181898,-4.6505406388014645,1.5143728469143918,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6505406388014646,True,False,False
+3:38613742:C:A,SCN5A,VCV001171509,1171509,NM_000335.5(SCN5A):c.703+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.932745436520316e-07,1.0,1442430.0,2.56068831301854e-05,1.0,eas,36.93608459818682,2.56068831301854e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,9.188026567224757,4.55340497393906,7.837254281248514,0.0,6.490721649484536,6.637931034482759,8.0,42.70733850637963,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,1171509,1171509,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,-6.15909474636754,-4.5916432806389675,1.5674508562497027,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,True,0.0001,-0.5916432806389674,True,False,True
+3:38581117:TGGGGGTGGCGGGGAGTA:T,SCN5A,VCV002754396,2754396,NM_000335.5(SCN5A):c.3025_3041del (p.Tyr1009fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.972392116176787e-07,1.0,1434228.0,2.27004449287206e-05,1.0,amr,32.557568468480774,2.27004449287206e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.6043553875236295,8.01077374304839,4.55340497393906,7.563259812757562,3.0,4.834843100189036,6.637931034482759,8.0,42.60021266441681,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,2754396,2754396,,,,unmatched,-6.156618196848443,-4.6439656305516115,1.5126519625515125,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.6439656305516117,True,False,True
+3:38587561:TC:T,SCN5A,VCV001214434,1214434,NM_000335.5(SCN5A):c.2274del (p.Ile759fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.052421583812688e-06,3.0,1461688.0,3.3126842680624107e-05,2.0,remaining,16.140362097890165,3.3126842680624107e-05,popmax,2.0,True,False,True,False,False,0.6637931034482759,0.6043553875236295,11.70405131304097,7.216976134290603,6.039566367962358,3.0,4.834843100189036,6.637931034482759,3.0,42.43336794996573,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.66; detectability=0.60,1214434,1214434,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-5.687733426836054,-4.479819954752671,1.2079132735924716,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.479819954752671,True,False,True
+11:2572110:G:A,KCNQ1,VCV001067403,1067403,NM_000218.3(KCNQ1):c.780+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.854366642813471e-07,1.0,1458924.0,2.520034272466105e-05,1.0,eas,36.76533263033125,2.520034272466105e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,9.031645450357535,4.55340497393906,7.827192497787115,0.0,6.490721649484536,6.4035087719298245,8.0,42.30647334349807,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,1067403,1067403,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164032668699268,-4.598593552773338,1.5654384995574229,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5985935527733383,True,False,False
+11:2583509:CTCTG:C,KCNQ1,VCV002830594,2830594,NM_000218.3(KCNQ1):c.1000_1003del (p.Val334fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.841311671004058e-07,1.0,1461708.0,2.235935962794025e-05,1.0,amr,32.68280853202259,2.235935962794025e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,7.86283606399323,4.55340497393906,7.571596848474263,3.0,4.834843100189036,6.4035087719298245,8.0,42.226189758525415,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,2830594,2830594,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164860623884185,-4.6505406388014645,1.5143193696948525,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6505406388014646,True,False,False
+1:237795312:A:C,RYR2,VCV000852605,852605,NM_001035.3(RYR2):c.13937A>C (p.Asp4646Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,9.531449812945298e-06,12.0,1258990.0,1.2573555298496204e-05,12.0,nfe,1.319164998619016,1.2573555298496204e-05,popmax,12.0,True,False,True,False,True,0.8035714285714286,0.811340206185567,2.237807940724398,16.849600618345303,0.601495598308596,0.0,6.490721649484536,8.035714285714286,8.0,42.21534009257712,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,852605,852605,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.020841034527222,-4.900541903841445,0.12029911966171912,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,-0.2984819125134828,True,False,True
+1:115727014:C:A,CASQ2,VCV001757434,1757434,NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.2557001542898904e-06,3.0,1329964.0,3.53090720775858e-05,3.0,sas,15.653258416096053,3.53090720775858e-05,popmax,3.0,True,False,True,False,False,0.5125,0.811340206185567,12.327442126962277,9.10680994787812,5.9730237748543935,0.0,6.490721649484536,5.125,3.0,42.022997499179326,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,1757434,1757434,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,-5.646718630748966,-4.452113695545919,1.1946047549708787,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.4521136955459197,False,False,True
+7:150947827:GC:G,KCNH2,VCV001420193,1420193,NM_000238.4(KCNH2):c.2743del (p.Ala915fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,7.281115117342451e-07,1.0,1373416.0,2.8638524543215534e-05,1.0,fin,39.3325551775003,2.8638524543215534e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,10.281389726816125,4.55340497393906,7.973760802916131,3.0,4.834843100189036,8.26388888888889,3.0,41.90728749274924,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,1420193,1420193,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,variation_id,-6.137802102524645,-4.543049360639533,1.5947521605832262,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5430493606395334,True,False,False
+12:2593252:C:G,CACNA1C,VCV000633643,633643,NM_000719.7(CACNA1C):c.2570C>G (p.Pro857Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842613057074236e-07,1.0,1461430.0,2.2369362920544025e-05,1.0,amr,32.691211738483084,2.2369362920544025e-05,popmax,1.0,True,False,True,False,True,0.7307692307692307,0.811340206185567,7.8672067870637745,4.55340497393906,7.572155092590362,0.0,6.490721649484536,7.3076923076923075,8.0,41.79118081077004,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,633643,633643,Long QT syndrome 8|Long QT syndrome,Long QT syndrome 8|Long QT syndrome,Long QT syndrome 8|Long QT syndrome,variation_id,-6.164778018227981,-4.650346384434088,1.5144310185180725,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,True,0.0001,-0.6503463844340879,True,False,True
+4:113356680:C:T,ANK2,VCV003906496,3906496,NM_001148.6(ANK2):c.8062C>T (p.Arg2688Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052244676819349e-06,3.0,1461814.0,2.987571701720841e-05,1.0,afr,14.557573859047409,2.987571701720841e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,10.69466291292472,4.55340497393906,5.815445011071998,0.0,6.490721649484536,6.136363636363637,8.0,41.69059818378395,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3906496,3906496,,,,unmatched,-5.6877708621480565,-4.524681662851162,1.1630890022143996,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.5246816628511615,True,False,True
+21:34449497:G:T,KCNE1,VCV000547162,547162,NM_000219.6(KCNE1):c.138C>A (p.Tyr46Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.000828228591091e-06,3.0,999724.0,2.9429942023014216e-05,2.0,sas,9.807270184725496,2.9429942023014216e-05,popmax,2.0,True,False,True,False,True,0.4166666666666667,0.811340206185567,10.547761979187364,7.216976134290603,4.95774070015624,0.0,6.490721649484536,4.166666666666667,8.0,41.37986712978541,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.42; detectability=0.81,547162,547162,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5|Long QT syndrome,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5|Long QT syndrome,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5|Long QT syndrome,variation_id,-5.52275886345888,-4.531210593459676,0.991548140031248,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,0.07084939786828673,True,False,False
+1:115726996:G:A,CASQ2,VCV000859128,859128,NM_001232.4(CASQ2):c.733C>T (p.Gln245Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.6498437597959474e-06,2.0,1212236.0,2.4118469924268005e-05,2.0,sas,14.618630499060393,2.4118469924268005e-05,popmax,2.0,True,False,True,False,True,0.5125,0.811340206185567,8.602869840903006,7.216976134290603,5.82453344499717,0.0,6.490721649484536,5.125,8.0,41.26010106967532,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,859128,859128,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id,-5.782557181526257,-4.617650247299917,1.1649066889994342,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.617650247299917,False,False,True
+11:2775959:G:A,KCNQ1,VCV000666975,666975,NM_000218.3(KCNQ1):c.1591-1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.4245501270698712e-06,2.0,1403952.0,3.968253968253968e-05,1.0,asj,27.85617162380255,3.968253968253968e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,13.468488078660226,4.55340497393906,7.224607147499393,0.0,6.490721649484536,6.4035087719298245,3.0,41.14073062151304,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,666975,666975,Congenital long QT syndrome|Long QT syndrome,Congenital long QT syndrome|Long QT syndrome,Congenital long QT syndrome|Long QT syndrome,variation_id,-5.846322264201398,-4.401400540781544,1.4449214294998787,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.40140054078154414,True,False,False
+3:38580930:C:T,SCN5A,VCV004614938,4614938,NM_000335.5(SCN5A):c.3228+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.386107049047398e-06,2.0,1442890.0,2.540779511154022e-05,1.0,eas,18.330314241376573,2.540779511154022e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,9.111757403326108,4.55340497393906,6.3158495512502615,0.0,6.490721649484536,6.637931034482759,8.0,41.109664612482725,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4614938,4614938,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-5.858203227866139,-4.595033021389579,1.2631699102500522,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.5950330213895793,True,False,True
+7:150947785:TC:T,KCNH2,VCV000972416,972416,NM_000238.4(KCNH2):c.2785del (p.Glu929fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,7.232300030520306e-07,1.0,1382686.0,2.6745119015779625e-05,1.0,fin,36.98005188233825,2.6745119015779625e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,9.613002399391142,4.55340497393906,7.839837580654089,3.0,4.834843100189036,8.26388888888889,3.0,41.10497694306222,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,972416,972416,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.140723565539252,-4.57275546515422,1.567967516130818,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5727554651542196,True,False,False
+1:115717895:C:T,CASQ2,VCV002914884,2914884,NM_001232.4(CASQ2):c.784-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.873948285912256e-07,1.0,1454768.0,2.5218136884047006e-05,1.0,eas,36.68648664297249,2.5218136884047006e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,9.038542836767386,4.55340497393906,7.822530613204668,0.0,6.490721649484536,5.125,8.0,41.03020007339565,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2914884,2914884,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.162793739470749,-4.598287002254073,1.5645061226409336,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.5982870022540738,False,False,True
+1:115744827:C:G,CASQ2,VCV001515619,1515619,NM_001232.4(CASQ2):c.319+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.866537850416593e-07,1.0,1456338.0,2.521050773962588e-05,1.0,eas,36.71496840744561,2.521050773962588e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,9.03558621784762,4.55340497393906,7.824215794207941,0.0,6.490721649484536,5.125,8.0,41.028928635479154,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,1515619,1515619,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.163262181638569,-4.598418407544608,1.564843158841588,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.5984184075446082,False,False,True
+11:2570755:G:A,KCNQ1,VCV000926958,926958,NM_000218.3(KCNQ1):c.604+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.371599119982005e-06,2.0,1458152.0,2.5191455058444177e-05,1.0,eas,18.366472626711847,2.5191455058444177e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,9.028198582011438,4.55340497393906,6.320128779391975,0.0,6.490721649484536,6.4035087719298245,8.0,40.79596275675683,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,926958,926958,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,-5.862772802200343,-4.598746746928134,1.264025755878395,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5987467469281339,True,False,False
+4:113232260:G:A,ANK2,VCV002101362,2101362,NM_001148.6(ANK2):c.483+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.081932291061752e-07,1.0,1412044.0,2.239741981723705e-05,1.0,amr,31.6260990230113,2.239741981723705e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,7.879455222339948,4.55340497393906,7.500228132000161,0.0,6.490721649484536,6.136363636363637,8.0,40.560173614127336,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2101362,2101362,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.1498482297607415,-4.649802009508604,1.5000456264000321,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.6498020095086041,True,False,True
+1:115727123:CTGTAACCATT:C,CASQ2,VCV003019374,3019374,NM_001232.4(CASQ2):c.607-11_607-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,8.92116979868351e-06,13.0,1457208.0,1.173325438959098e-05,13.0,nfe,1.3152147464010495,1.173325438959098e-05,popmax,13.0,True,False,True,False,True,0.5125,0.6043553875236295,1.5619167845981994,17.336428839648455,0.5949833480172113,3.0,4.834843100189036,5.125,8.0,40.4531720724529,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.51; detectability=0.60,3019374,3019374,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.049578194524858,-4.930581513254062,0.11899666960344225,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.9305815132540618,False,False,True
+7:150958081:CG:C,KCNH2,VCV001076966,1076966,NM_000238.4(KCNH2):c.893del (p.Pro298fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.5673706872718e-06,4.0,1121274.0,3.380434047731729e-05,1.0,sas,9.475979640116968,3.380434047731729e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,11.901880802626826,4.55340497393906,4.883120594680425,3.0,4.834843100189036,8.26388888888889,3.0,40.43713836032424,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,1076966,1076966,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,variation_id,-5.447651760560098,-4.4710275327305515,0.976624118936085,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,0.13103245859741097,True,False,False
+4:113282823:T:C,ANK2,VCV002664649,2664649,NM_001148.6(ANK2):c.2030T>C (p.Met677Thr),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,2.0523373385836683e-06,3.0,1461748.0,2.237236565394425e-05,1.0,amr,10.90091542575946,2.237236565394425e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,7.868518385294778,4.55340497393906,5.187314851016116,0.0,6.490721649484536,6.136363636363637,10.0,40.23632349609812,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2664649,2664649,,,,unmatched,-5.687751253577545,-4.650288091176771,1.0374629702032232,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.6502880911767708,True,False,True
+3:38551291:A:AAGTT,SCN5A,VCV001457006,1457006,NM_000335.5(SCN5A):c.5074_5077dup (p.Phe1693Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.840441235821475e-07,1.0,1461894.0,1.6557387906483872e-05,1.0,remaining,24.20511211274717,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.382680412371134,4.927316620159899,4.55340497393906,6.919535492689683,6.0,3.0614432989690723,6.637931034482759,8.0,40.09963142024048,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.66; detectability=0.38,1457006,1457006,,,,unmatched,-6.164915883645086,-4.7810081764447645,1.3839070985379367,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.7810081764447644,True,False,True
+11:2847865:C:CA,KCNQ1,VCV000405260,405260,NM_000218.3(KCNQ1):c.1894dup (p.Arg632fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,7.015476140365646e-07,1.0,1425420.0,2.484225170169424e-05,1.0,amr,35.410593371081,2.484225170169424e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.382680412371134,8.891796942507975,4.55340497393906,7.745666021199067,6.0,3.0614432989690723,6.4035087719298245,3.0,39.655820008545,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.64; detectability=0.38,405260,405260,Long QT syndrome||Cardiac arrhythmia,Long QT syndrome||Cardiac arrhythmia,Long QT syndrome||Cardiac arrhythmia,variation_id,-6.153942848068836,-4.604809042259513,1.5491332042398134,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6048090422595129,True,False,True
+3:38581292:ATC:A,SCN5A,VCV000418944,418944,NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,4.791389735748012e-06,7.0,1460954.0,3.826432999158185e-05,1.0,asj,7.986059393172863,3.826432999158185e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.6043553875236295,13.112867803174236,4.55340497393906,4.511662678822849,3.0,4.834843100189036,6.637931034482759,3.0,39.65070959060794,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.66; detectability=0.60,418944,418944,Cardiac arrhythmia|Cardiovascular phenotype|Brugada syndrome|Long QT syndrome 3,Cardiac arrhythmia|Cardiovascular phenotype|Brugada syndrome|Long QT syndrome 3,Cardiac arrhythmia|Cardiovascular phenotype|Brugada syndrome|Long QT syndrome 3,variation_id,-5.319538501819648,-4.4172058867643305,0.9023325357645697,anchored_exact,1.0,Brugada|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,0.18485410456363213,True,False,True
+1:115705275:C:A,CASQ2,VCV000651334,651334,NM_001232.4(CASQ2):c.856G>T (p.Glu286Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.846004603253495e-07,1.0,1460706.0,2.2361359570661896e-05,1.0,amr,32.66332584221321,2.2361359570661896e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,7.8637100522238415,4.55340497393906,7.570302016728117,0.0,6.490721649484536,5.125,8.0,39.60313869237555,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,651334,651334,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.164562813178434,-4.650501794878367,1.5140604033456235,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.650501794878367,False,False,True
+1:115705293:C:G,CASQ2,VCV004778592,4778592,NM_001232.4(CASQ2):c.839-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.880825478871049e-07,1.0,1453314.0,2.236736154603203e-05,1.0,amr,32.50675388870347,2.236736154603203e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,7.866332486038185,4.55340497393906,7.559868015950208,0.0,6.490721649484536,5.125,8.0,39.59532712541199,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,4778592,4778592,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.162359457198581,-4.650385242259184,1.5119736031900417,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.6503852422591847,False,False,True
+3:38551460:G:A,SCN5A,VCV000523778,523778,NM_000335.5(SCN5A):c.4909C>T (p.Arg1637Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.104371429196857e-06,6.0,1461856.0,3.311587243765937e-05,2.0,remaining,8.068437747531474,3.311587243765937e-05,popmax,2.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,11.70081481806312,7.216976134290603,4.5339472626392565,0.0,6.490721649484536,6.637931034482759,3.0,39.58039089896028,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,523778,523778,Brugada syndrome|Cardiovascular phenotype,Brugada syndrome|Cardiovascular phenotype,Brugada syndrome|Cardiovascular phenotype,variation_id,-5.386753344204365,-4.479963798978251,0.9067894525278514,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,0.12209619234971077,True,False,True
+3:38603712:C:T,SCN5A,VCV000505275,505275,NM_000335.5(SCN5A):c.1890G>A (p.Thr630=),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,other_or_unresolved,1.4756161804265416e-06,2.0,1355366.0,3.419271011420365e-05,1.0,amr,23.17180334286967,3.419271011420365e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,12.013504583463668,4.55340497393906,6.824799170111071,0.0,6.490721649484536,6.637931034482759,3.0,39.5203614114811,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,505275,505275,Cardiovascular phenotype|Cardiac arrhythmia|Brugada syndrome 1||Brugada syndrome,Cardiovascular phenotype|Cardiac arrhythmia|Brugada syndrome 1||Brugada syndrome,Cardiovascular phenotype|Cardiac arrhythmia|Brugada syndrome 1||Brugada syndrome,variation_id,-5.831026591293273,-4.466066475658547,1.3649598340222142,anchored_exact,1.0,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,True,0.0001,-0.46606647565854664,True,False,True
+15:73329724:C:A,HCN4,VCV000404118,404118,NM_005477.3(HCN4):c.1439G>T (p.Gly480Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840693919991244e-07,1.0,1461840.0,2.236235967619303e-05,1.0,amr,32.69014554312366,2.236235967619303e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,7.864147075654932,4.55340497393906,7.572084270756659,0.0,6.490721649484536,5.0,8.0,39.48035796983519,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,404118,404118,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id,-6.164899841213027,-4.6504823716138945,1.5144168541513319,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,True,0.0001,-0.6504823716138943,True,False,False
+6:123377715:C:A,TRDN,VCV003780742,3780742,NM_006073.4(TRDN):c.1246+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.053511778943564e-06,3.0,1460912.0,2.990251779199809e-05,1.0,afr,14.561642420059124,2.990251779199809e-05,popmax,1.0,True,False,True,False,True,0.390625,0.811340206185567,10.70342486961894,4.55340497393906,5.816051810922391,0.0,6.490721649484536,3.90625,8.0,39.469853303964925,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,3780742,3780742,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.687502801690036,-4.524292242540612,1.1632103621844783,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.5242922425406118,False,False,True
+6:123530549:CTT:C,TRDN,VCV001403180,1403180,NM_006073.4(TRDN):c.439_440del (p.Lys147fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,9.0703770555742e-07,1.0,1102490.0,2.2095541119802024e-05,1.0,remaining,24.360087374907803,2.2095541119802024e-05,popmax,1.0,True,False,True,False,True,0.390625,0.6043553875236295,7.746854885003509,4.55340497393906,6.933394208468446,3.0,4.834843100189036,3.90625,8.0,38.97474716760005,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,1403180,1403180,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.042374658943037,-4.655695358099588,1.3866788416936893,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.6556953580995877,False,False,True
+3:38562432:G:A,SCN5A,VCV000496571,496571,NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.856199444099349e-07,1.0,1458534.0,2.524614996213077e-05,1.0,eas,36.822315840800826,2.524614996213077e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,9.049391432957496,4.55340497393906,7.83055549406824,0.0,6.490721649484536,6.637931034482759,3.0,37.5620045849321,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,496571,496571,Brugada syndrome (shorter-than-normal QT interval)||Brugada syndrome 1|Cardiovascular phenotype,Brugada syndrome (shorter-than-normal QT interval)||Brugada syndrome 1|Cardiovascular phenotype,Brugada syndrome (shorter-than-normal QT interval)||Brugada syndrome 1|Cardiovascular phenotype,variation_id,-6.163916557448343,-4.597804842404293,1.566111098813648,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,True,0.0001,-0.5978048424042931,True,False,True
+11:2445417:C:T,KCNQ1,VCV002440963,2440963,NM_000218.3(KCNQ1):c.319C>T (p.Gln107Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3834281903929214e-06,2.0,1445684.0,2.3213705371651425e-05,2.0,sas,16.779829811931517,2.3213705371651425e-05,popmax,2.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,8.229250952613919,7.216976134290603,6.123937758591581,0.0,6.490721649484536,6.4035087719298245,3.0,37.46439526691046,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,2440963,2440963,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.859043378861654,-4.634255531925697,1.2247875517183162,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6342555319256964,True,False,False
+1:237784169:A:C,RYR2,VCV003255050,3255050,NM_001035.3(RYR2):c.12457A>C (p.Ser4153Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.3682773114992762e-06,2.0,1461692.0,1.6563421340312053e-05,1.0,remaining,12.105302116616071,1.6563421340312053e-05,popmax,1.0,True,False,True,False,True,0.8035714285714286,0.811340206185567,4.930876705577447,4.55340497393906,5.414878163825536,0.0,6.490721649484536,8.035714285714286,8.0,37.42559577854087,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,3255050,3255050,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.8638258743639335,-4.780849950416652,1.0829756327651072,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,True,0.0001,-0.7808499504166522,True,False,True
+11:2572980:G:A,KCNQ1,VCV002440959,2440959,NM_000218.3(KCNQ1):c.915G>A (p.Trp305Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.845723408129707e-07,1.0,1460766.0,2.5192724341210258e-05,1.0,eas,36.80062286867968,2.5192724341210258e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,9.028690917341178,4.55340497393906,7.829275846919392,0.0,6.490721649484536,6.4035087719298245,3.0,37.30560215961399,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,2440959,2440959,,,,unmatched,-6.164580651904198,-4.598724865357054,1.5658551693838785,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5987248653570547,True,False,False
+11:2445200:C:A,KCNQ1,VCV002899907,2899907,NM_000218.3(KCNQ1):c.102C>A (p.Cys34Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.003045087718947e-06,3.0,998986.0,3.278043663541598e-05,1.0,sas,10.915729122331037,3.278043663541598e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,11.601331814792106,4.55340497393906,5.190263749803998,0.0,6.490721649484536,6.4035087719298245,3.0,37.23923095994952,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,2899907,2899907,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,variation_id,-5.522438147254718,-4.484385265924494,1.0380527499607999,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.48438526592449366,True,False,False
+6:123530547:GTCTTA:G,TRDN,VCV000449691,449691,NM_006073.4(TRDN):c.438_442del (p.Asp146_Lys147insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,8.154670542249349e-06,9.0,1103662.0,3.4233679093492176e-05,2.0,sas,4.198045245124528,3.4233679093492176e-05,popmax,2.0,True,False,True,False,False,0.390625,0.6043553875236295,12.02520572910473,7.216976134290603,3.1152355747598097,3.0,4.834843100189036,3.90625,3.0,37.098510538344186,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,449691,449691,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype,variation_id,-5.088593580248895,-4.465546424725965,0.623047114951962,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.4655464247259657,False,False,True
+4:113367670:T:G,ANK2,VCV004278327,4278327,NM_001148.6(ANK2):c.11137T>G (p.Ser3713Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840721997162468e-07,1.0,1461834.0,1.6559032952475575e-05,1.0,remaining,24.206523452964174,1.6559032952475575e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,4.928287423921334,4.55340497393906,6.919662102183732,0.0,6.490721649484536,6.136363636363637,8.0,37.0284397858923,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,4278327,4278327,"Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related",variation_id,-6.164898058683996,-4.780965029608317,1.3839324204367465,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.7809650296083169,True,False,True
+4:113354772:C:T,ANK2,VCV003359793,3359793,NM_001148.6(ANK2):c.6154C>T (p.Arg2052Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3683166284678274e-06,2.0,1461650.0,1.872308556450103e-05,1.0,fin,13.683289738411244,1.872308556450103e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,6.128492517596933,4.55340497393906,5.680952615385102,0.0,6.490721649484536,6.136363636363637,8.0,36.98993539276927,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3359793,3359793,,,,unmatched,-5.863813395243639,-4.727622577969138,1.1361905230770204,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.7276225779691373,True,False,True
+6:123516159:CT:C,TRDN,VCV001075032,1075032,NM_006073.4(TRDN):c.531del (p.Glu178fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.240414387045028e-06,3.0,1339038.0,3.33000333000333e-05,1.0,afr,14.863330475494562,3.33000333000333e-05,popmax,1.0,True,False,True,False,False,0.390625,0.6043553875236295,11.755005318964844,4.55340497393906,5.860580670631089,3.0,4.834843100189036,3.90625,3.0,36.91008406372403,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,1075032,1075032,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,-5.649671647128898,-4.477555332198981,1.1721161341262178,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.4775553321989812,False,False,True
+7:150959590:T:TG,KCNH2,VCV000503669,503669,NM_000238.4(KCNH2):c.453dup (p.Thr152fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.3683035225605884e-06,2.0,1461664.0,1.8775111711914684e-05,1.0,fin,13.721443145404296,1.8775111711914684e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.382680412371134,6.1556074395176905,4.55340497393906,5.68699895230755,6.0,3.0614432989690723,8.26388888888889,3.0,36.72134355362226,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.83; detectability=0.38,503669,503669,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,variation_id,-5.863817554990246,-4.726417470263939,1.13739979046151,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.7264174702639392,True,False,False
+3:38620919:G:A,SCN5A,VCV000667015,667015,NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842435140557302e-07,1.0,1461468.0,2.2374367924106146e-05,1.0,amr,32.69937641368331,2.2374367924106146e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,7.869392881930953,4.55340497393906,7.572697353105923,0.0,6.490721649484536,6.637931034482759,3.0,36.12414789294324,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,667015,667015,Brugada syndrome|Brugada syndrome (shorter-than-normal QT interval)||Cardiac arrhythmia,Brugada syndrome|Brugada syndrome (shorter-than-normal QT interval)||Cardiac arrhythmia,Brugada syndrome|Brugada syndrome (shorter-than-normal QT interval)||Cardiac arrhythmia,variation_id,-6.164789310575721,-4.650249224657871,1.5145394706211845,anchored_exact,1.0,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,True,0.0001,-0.6502492246578704,True,False,True
+17:70175675:G:A,KCNJ2,VCV001480008,1480008,NM_000891.3(KCNJ2):c.636G>A (p.Trp212Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840450594161539e-07,1.0,1461892.0,1.6557387906483872e-05,1.0,remaining,24.20507899806617,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,4.927316620159899,4.55340497393906,6.919532521926111,0.0,6.490721649484536,5.0,8.0,35.89097576550961,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,1480008,1480008,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,-6.1649152894915025,-4.7810081764447645,1.3839065043852221,anchored_exact,1.0,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,True,0.0001,-0.7810081764447644,True,False,True
+11:2585248:C:T,KCNQ1,VCV000842027,842027,NM_000218.3(KCNQ1):c.1069C>T (p.Gln357Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3682454851319603e-06,2.0,1461726.0,2.5188916876574308e-05,1.0,eas,18.40963463110593,2.5188916876574308e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,9.027213985763447,4.55340497393906,6.325225846575167,0.0,6.490721649484536,6.4035087719298245,3.0,35.800075227692034,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,842027,842027,Long QT syndrome|KCNQ1-related disorder,Long QT syndrome|KCNQ1-related disorder,Long QT syndrome|KCNQ1-related disorder,variation_id,-5.8638359762463095,-4.598790506763115,1.265045169315033,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5987905067631151,True,False,False
+4:113333091:C:T,ANK2,VCV002576605,2576605,NM_001148.6(ANK2):c.3262C>T (p.Arg1088Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.368095733867073e-06,2.0,1461886.0,1.6557387906483872e-05,1.0,remaining,12.102498673235353,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,4.927316620159899,4.55340497393906,5.414375218511921,0.0,6.490721649484536,6.136363636363637,8.0,35.522182098459055,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2576605,2576605,"ANK2-associated Neurodevelopmental Disorder|Cardiac arrhythmia, ankyrin-B-related","ANK2-associated Neurodevelopmental Disorder|Cardiac arrhythmia, ankyrin-B-related","ANK2-associated Neurodevelopmental Disorder|Cardiac arrhythmia, ankyrin-B-related",variation_id,-5.8638835113618955,-4.7810081764447645,1.0828750437023842,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.7810081764447644,True,False,True
+7:150977912:A:G,KCNH2,VCV004813695,4813695,NM_000238.4(KCNH2):c.2T>C (p.Met1Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.93410107700458e-07,1.0,1442148.0,1.171042461999672e-05,1.0,sas,16.888142531826052,1.171042461999672e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.811340206185567,1.542885299143372,4.55340497393906,6.137909428275693,0.0,6.490721649484536,8.26388888888889,8.0,34.98881023973155,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,4813695,4813695,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,-6.159009832009677,-4.931427357124214,1.2275818856551386,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.9314273571242137,True,False,False
+11:2583515:CTT:C,KCNQ1,VCV003000119,3000119,NM_000218.3(KCNQ1):c.1004_1005del (p.Phe335fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,4.105124015796517e-06,6.0,1461588.0,1.6558484567492383e-05,1.0,remaining,4.033612984689953,1.6558484567492383e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,4.927963811950888,4.55340497393906,3.028471131906448,3.0,4.834843100189036,6.4035087719298245,8.0,34.74819178991525,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,3000119,3000119,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.38667371831006,-4.780979412363427,0.6056942263812896,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-0.1789194210354652,True,False,False
+1:115738290:G:A,CASQ2,VCV000942279,942279,NM_001232.4(CASQ2):c.466C>T (p.Gln156Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052578860079804e-06,3.0,1461576.0,1.655958137378287e-05,1.0,remaining,8.067692125332965,1.655958137378287e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,4.928611046609361,4.55340497393906,4.533746582792739,0.0,6.490721649484536,5.125,8.0,33.6314842528257,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,942279,942279,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.687700148293988,-4.780950646376869,0.9067493165585478,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.7809506463768694,False,False,True
+6:123516162:T:A,TRDN,VCV000583099,583099,NM_006073.4(TRDN):c.529A>T (p.Lys177Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.239026530971708e-06,3.0,1339868.0,1.8289560318969934e-05,1.0,remaining,8.168529000191663,1.8289560318969934e-05,popmax,1.0,True,False,True,False,True,0.390625,0.811340206185567,5.899574000431089,4.55340497393906,4.560719276163659,0.0,6.490721649484536,3.90625,8.0,33.41066990001834,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,583099,583099,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.6499407602903995,-4.737796734837436,0.9121438552327318,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.737796734837436,False,False,True
+3:38603999:G:A,SCN5A,VCV000517279,517279,NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.7902486960258726e-06,7.0,1461302.0,2.519018590357197e-05,1.0,eas,5.258637545443709,2.519018590357197e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,9.027706271486364,4.55340497393906,3.604366189265548,0.0,6.490721649484536,6.637931034482759,3.0,33.31413011865827,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,517279,517279,Brugada syndrome|Cardiovascular phenotype|Primary familial dilated cardiomyopathy||Cardiac arrhythmia|SCN5A-related disorder,Brugada syndrome|Cardiovascular phenotype|Primary familial dilated cardiomyopathy||Cardiac arrhythmia|SCN5A-related disorder,Brugada syndrome|Cardiovascular phenotype|Primary familial dilated cardiomyopathy||Cardiac arrhythmia|SCN5A-related disorder,variation_id,-5.319641938671461,-4.598768627396784,0.7208732378531095,anchored_exact,1.0,Brugada|arrhythmia|cardiomyopathy_overlap,assertion_condition_label,3,1.584962500721156,Brugada,structural_electrical,0.7,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,0.0032913639311787702,True,False,True
+6:123570930:G:GT,TRDN,VCV004077704,4077704,NM_006073.4(TRDN):c.224dup (p.Asn75fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.843811893723814e-07,1.0,1461174.0,1.160227404571296e-05,1.0,sas,16.952917866481776,1.160227404571296e-05,popmax,1.0,True,False,True,False,True,0.390625,0.382680412371134,1.4522210262051705,4.55340497393906,6.146222289760973,6.0,3.0614432989690723,3.90625,8.0,33.11954158887428,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,4077704,4077704,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,-6.164701935811307,-4.93545688071161,1.2292444579521946,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.93545688071161,False,False,True
+11:2572062:G:T,KCNQ1,VCV000405265,405265,NM_000218.3(KCNQ1):c.733G>T (p.Gly245Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.846370191451896e-07,1.0,1460628.0,1.1593396401409756e-05,1.0,sas,16.933616125912472,1.1593396401409756e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,1.4447412669586976,4.55340497393906,6.143748551865907,0.0,6.490721649484536,6.4035087719298245,8.0,33.03612521417803,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,405265,405265,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164539621739457,-4.935789314484561,1.2287497103731815,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.935789314484561,True,False,False
+3:38633181:G:A,SCN5A,VCV000924596,924596,NM_000335.5(SCN5A):c.127C>T (p.Arg43Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.843886834962407e-07,1.0,1461158.0,1.657000828500414e-05,1.0,remaining,24.21136625022659,1.657000828500414e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,4.93476191496682,4.55340497393906,6.920096487107972,0.0,6.490721649484536,6.637931034482759,3.0,32.53691605998115,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,924596,924596,Cardiac arrhythmia|Brugada syndrome 1;Long QT syndrome 3||Brugada syndrome 1,Cardiac arrhythmia|Brugada syndrome 1;Long QT syndrome 3||Brugada syndrome 1,Cardiac arrhythmia|Brugada syndrome 1;Long QT syndrome 3||Brugada syndrome 1,variation_id,-6.164697180217685,-4.780677274433368,1.3840192974215944,anchored_exact,1.0,Brugada|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,True,0.0001,-0.7806772744333681,True,False,True
+1:115732931:G:T,CASQ2,VCV001367739,1367739,NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.05254796462502e-06,3.0,1461598.0,2.236035955458164e-05,1.0,amr,10.893947447761208,2.236035955458164e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,7.863273048337192,4.55340497393906,5.185926379560558,0.0,6.490721649484536,5.125,3.0,32.21832605132135,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,1367739,1367739,Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype,variation_id,-5.687706685351722,-4.650521217274198,1.0371852759121116,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.6505212172741976,False,False,True
+17:70175721:C:T,KCNJ2,VCV000403974,403974,NM_000891.3(KCNJ2):c.682C>T (p.Arg228Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.104292816666712e-06,6.0,1461884.0,1.6557387906483872e-05,1.0,remaining,4.034162671114734,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,4.927316620159899,4.55340497393906,3.028767032278017,0.0,6.490721649484536,5.0,8.0,32.00021027586151,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,403974,403974,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,-5.386761662485399,-4.7810081764447645,0.6057534064556034,anchored_exact,1.0,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-0.17894818511680197,True,False,True
+1:237640956:A:G,RYR2,VCV001805845,1805845,NM_001035.3(RYR2):c.7175A>G (p.Tyr2392Cys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0529075329389014e-06,3.0,1461342.0,1.656781205474005e-05,1.0,remaining,8.070409757137067,1.656781205474005e-05,popmax,1.0,True,False,True,False,False,0.8035714285714286,0.811340206185567,4.933466673522359,4.55340497393906,4.534477928099714,0.0,6.490721649484536,8.035714285714286,3.0,31.54778551075995,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.80; detectability=0.81,1805845,1805845,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.687630611680931,-4.780734840723263,0.9068955856199429,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,-0.1786748493953005,True,False,True
+6:123530506:CT:C,TRDN,VCV002732852,2732852,NM_006073.4(TRDN):c.483del (p.Val162fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.6582867511487022e-06,4.0,1093408.0,2.22727070248118e-05,1.0,remaining,6.088287619752758,2.22727070248118e-05,popmax,1.0,True,False,True,False,False,0.390625,0.6043553875236295,7.824893037576183,4.55340497393906,3.922475804818624,3.0,4.834843100189036,3.90625,3.0,31.041866916522903,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,2732852,2732852,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,-5.436722255786699,-4.652226995606679,0.7844951609637247,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.6522269956066784,False,False,True
+21:34449418:G:A,KCNE1,VCV000418270,418270,NM_000219.6(KCNE1):c.217C>T (p.His73Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.879216099567022e-07,1.0,1453654.0,1.1603620329542817e-05,1.0,sas,16.86762604048317,1.1603620329542817e-05,popmax,1.0,True,False,True,False,True,0.4166666666666667,0.811340206185567,1.4533548226908253,4.55340497393906,6.135269820157655,0.0,6.490721649484536,4.166666666666667,8.0,30.79941793293874,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.42; detectability=0.81,418270,418270,Long QT syndrome 5,Long QT syndrome 5,Long QT syndrome 5,variation_id,-6.162461047669836,-4.935406489752349,1.227053964031531,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,True,0.0001,-0.935406489752349,True,False,False
+1:237707240:A:T,RYR2,VCV000649240,649240,NM_001035.3(RYR2):c.9872A>T (p.Asp3291Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,7.100769865468815e-07,1.0,1408298.0,1.27890321260487e-05,1.0,sas,18.0107444088528,1.27890321260487e-05,popmax,1.0,True,False,True,False,False,0.8035714285714286,0.811340206185567,2.403848526170763,4.55340497393906,6.277658315895527,0.0,6.490721649484536,8.035714285714286,3.0,30.76134775120417,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.80; detectability=0.81,649240,649240,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.148694562520469,-4.8931623216840965,1.2555316631791054,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,True,0.0001,-0.8931623216840966,True,False,True
+11:2572019:C:CCG,KCNQ1,VCV000817280,817280,NM_000218.3(KCNQ1):c.692_693dup (p.Phe232fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.848423835254316e-07,1.0,1460190.0,1.1602543277486424e-05,1.0,sas,16.94189439015813,1.1602543277486424e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.382680412371134,1.4524477749782392,4.55340497393906,6.144809850868763,6.0,3.0614432989690723,6.4035087719298245,3.0,30.61561467068496,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.64; detectability=0.38,817280,817280,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.1644093698822715,-4.935446802987494,1.2289619701737526,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.9354468029874938,True,False,False
+1:115725554:C:A,CASQ2,VCV003575248,3575248,NM_001232.4(CASQ2):c.738-1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.955567832684809e-06,7.0,1006388.0,2.285818780287099e-05,1.0,remaining,3.2863148008051355,2.285818780287099e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,8.07844085003294,4.55340497393906,2.583545813913104,0.0,6.490721649484536,5.125,3.0,29.83111328736964,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,3575248,3575248,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.157667409663991,-4.640958203442495,0.5167091627826208,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.640958203442495,False,False,True
+3:38566408:C:T,SCN5A,VCV000488729,488729,NM_000335.5(SCN5A):c.3837+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.791376617260729e-06,7.0,1460958.0,1.8777932174108987e-05,1.0,fin,3.919109424075093,1.8777932174108987e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,6.157075256610451,4.55340497393906,2.9659369471539314,0.0,6.490721649484536,6.637931034482759,3.0,29.80506986167073,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,488729,488729,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,-5.319539690888947,-4.726352233945231,0.5931873894307864,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-0.12429224261726858,True,False,True
+21:34449584:C:T,KCNE1,VCV000547164,547164,NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.0952014842170511e-06,1.0,913074.0,1.5943369152769364e-05,1.0,sas,14.55746346682834,1.5943369152769364e-05,popmax,1.0,True,False,True,False,False,0.4166666666666667,0.811340206185567,4.558052904933406,4.55340497393906,5.815428544415592,0.0,6.490721649484536,4.166666666666667,3.0,28.584274739439262,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.42; detectability=0.81,547164,547164,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome|Sensorineural hearing loss disorder|Long QT syndrome 5,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome|Sensorineural hearing loss disorder|Long QT syndrome 5,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome|Sensorineural hearing loss disorder|Long QT syndrome 5,variation_id,-5.960505976317786,-4.7974198981316665,1.1630857088831186,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,True,0.0001,-0.7974198981316662,True,False,False
+11:2588855:G:A,KCNQ1,VCV002773478,2773478,NM_000218.3(KCNQ1):c.1393+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.8510794560791e-07,1.0,1459624.0,1.160631383472609e-05,1.0,sas,16.940830957078788,1.160631383472609e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,1.4556228103999276,4.55340497393906,6.144673544502126,0.0,6.490721649484536,6.4035087719298245,3.0,28.04793175025548,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,2773478,2773478,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id,-6.1642409956777255,-4.935305690289925,1.2289347089004252,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.9353056902899253,True,False,True
+17:70175818:G:A,KCNJ2,VCV001477795,1477795,NM_000891.3(KCNJ2):c.779G>A (p.Arg260His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,4.104309661955375e-06,6.0,1461878.0,1.15931275939623e-05,1.0,sas,2.8246225855718,1.15931275939623e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,1.4445146969411835,4.55340497393906,2.254802136965795,0.0,6.490721649484536,5.0,8.0,27.74344345733057,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,1477795,1477795,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,-5.386759880010018,-4.935799384263986,0.45096042739315895,anchored_exact,1.0,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-0.33373939293602345,True,False,True
+6:123636753:C:A,TRDN,VCV000915308,915308,NM_006073.4(TRDN):c.22+1G>T,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.055515358810761e-06,3.0,1459488.0,1.6596408537192552e-05,1.0,remaining,8.074082926196981,1.6596408537192552e-05,popmax,1.0,True,False,True,False,False,0.390625,0.811340206185567,4.950318218612913,4.55340497393906,4.535466027950625,0.0,6.490721649484536,3.90625,3.0,27.43616086998713,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.39; detectability=0.81,915308,915308,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.687079273823139,-4.779985883118516,0.9070932055901251,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.779985883118516,False,False,True
+15:73329709:G:A,HCN4,VCV001675066,1675066,NM_005477.3(HCN4):c.1454C>T (p.Ala485Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,3.420346959995622e-06,5.0,1461840.0,1.6557936218829686e-05,1.0,remaining,4.841009573438511,1.6557936218829686e-05,popmax,1.0,True,False,True,False,False,0.5,0.811340206185567,4.927640210697314,4.55340497393906,3.424679707448827,0.0,6.490721649484536,5.0,3.0,27.396446541569738,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.50; detectability=0.81,1675066,1675066,Left ventricular noncompaction cardiomyopathy|Brugada syndrome 8|Cardiovascular phenotype,Left ventricular noncompaction cardiomyopathy|Brugada syndrome 8|Cardiovascular phenotype,Left ventricular noncompaction cardiomyopathy|Brugada syndrome 8|Cardiovascular phenotype,variation_id,-5.465929836877009,-4.7809937946422325,0.6849359414897653,anchored_exact,1.0,Brugada|cardiomyopathy_overlap,assertion_condition_label,2,1.0,Brugada,structural_electrical,0.7,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,-0.17893380331427042,True,False,True
+1:237330939:C:T,RYR2,VCV000404190,404190,NM_001035.3(RYR2):c.230C>T (p.Ala77Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0524243921061023e-06,3.0,1461686.0,1.15931275939623e-05,1.0,sas,5.648501835219441,1.15931275939623e-05,popmax,1.0,True,False,True,False,False,0.8035714285714286,0.811340206185567,1.4445146969411835,4.55340497393906,3.759666370977259,0.0,6.490721649484536,8.035714285714286,3.0,27.284021977056327,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.80; detectability=0.81,404190,404190,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.687732832598735,-4.935799384263986,0.7519332741954518,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,-0.33373939293602345,True,False,True
+1:115738223:C:T,CASQ2,VCV001746831,1746831,NM_001232.4(CASQ2):c.532+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.006952298070145e-07,1.0,1427154.0,1.168688497767805e-05,1.0,sas,16.678962267139422,1.168688497767805e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,1.5232231551520896,4.55340497393906,6.110845130886591,0.0,6.490721649484536,5.125,3.0,26.80319490946228,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,1746831,1746831,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,-6.1544708390863345,-4.932301230265192,1.2221690261773182,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.9323012302651916,False,False,True
+1:115744914:T:C,CASQ2,VCV000408869,408869,NM_001232.4(CASQ2):c.235-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.372949328559131e-06,2.0,1456718.0,1.162385214460072e-05,1.0,sas,8.466331886019208,1.162385214460072e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,1.4703775753869388,4.55340497393906,4.63847644556688,0.0,6.490721649484536,5.125,3.0,25.27798064437741,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,408869,408869,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,-5.862345490973913,-4.934649922900711,0.9276952891133761,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.9346499229007108,False,False,True
+21:34449622:T:TA,KCNE1,VCV000430060,430060,NM_000219.6(KCNE1):c.12dup (p.Asn5Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,2.628017292353784e-06,2.0,761030.0,3.923091710114907e-06,2.0,nfe,1.4927950545584636,3.923091710114907e-06,popmax,0.0,False,False,False,False,False,0.4166666666666667,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.42; detectability=0.38,430060,430060,Long QT syndrome|Cardiovascular phenotype|Long QT syndrome 5;Jervell and Lange-Nielsen syndrome 2|Jervell and Lange-Nielsen syndrome 2,Long QT syndrome|Cardiovascular phenotype|Long QT syndrome 5;Jervell and Lange-Nielsen syndrome 2|Jervell and Lange-Nielsen syndrome 2,Long QT syndrome|Cardiovascular phenotype|Long QT syndrome 5;Jervell and Lange-Nielsen syndrome 2|Jervell and Lange-Nielsen syndrome 2,variation_id,-5.580371781445164,-5.406371539249691,0.17400018764202313,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,-0.8043115479217289,True,False,False
+4:113358978:A:AG,ANK2,VCV001208780,1208780,NM_001148.6(ANK2):c.10367dup (p.Thr3457fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,3.420660515862971e-06,,,3.420660515862971e-06,,,2.923411145366478e-07,3.420660515862971e-06,global,0.0,False,False,False,False,True,0.6136363636363636,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.61; detectability=0.38,1208780,1208780,,,,unmatched,-5.465890025318979,-5.465890025318979,-6.534110101643173,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-0.8638300339910164,True,False,True
+7:150947376:C:CG,KCNH2,VCV000857501,857501,NM_000238.4(KCNH2):c.3103dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.4431722079668878e-06,2.0,1385836.0,1.8602055527135749e-06,2.0,nfe,1.2889697109428708,1.8602055527135749e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.83; detectability=0.38,857501,857501,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.840681843191019,-5.730439063590216,0.11024271213623696,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1283790722622535,False,False,False
+11:2588804:C:CA,KCNQ1,VCV001068919,1068919,NM_000218.3(KCNQ1):c.1344dup (p.Glu449fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.3687567582364937e-06,2.0,1461180.0,1.7986646713479913e-06,2.0,nfe,1.3140861927718974,1.7986646713479913e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.64; detectability=0.38,1068919,1068919,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.863673723481508,-5.745049795496874,0.11862385214731218,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1429898041689115,False,False,False
+7:150948455:C:CGCCT,KCNH2,VCV000519280,519280,NM_000238.4(KCNH2):c.2677_2680dup (p.Arg894fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,8.697558073595258e-07,1.0,1149748.0,1.1272305073664514e-06,1.0,nfe,1.2960306810228792,1.1272305073664514e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.83; detectability=0.38,519280,519280,Cardiovascular phenotype|Long QT syndrome 2|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome 2|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome 2|Long QT syndrome,variation_id,-6.060602662786437,-5.947987265993787,0.11261528273921749,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.3459272746658248,False,False,False
+7:82443436:G:GGCCAGCAGGCA,CACNA2D1,VCV001802180,1802180,NM_000722.4(CACNA2D1):c.13_23dup (p.Leu9fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,duplication,LOF,6.870028675499691e-07,1.0,1455598.0,9.019003039404024e-07,1.0,nfe,1.3128038232984225,9.019003039404024e-07,popmax,0.0,False,False,False,False,True,0.75,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.75; detectability=0.38,1802180,1802180,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,variation_id,-6.163041450191499,-6.0448414667169414,0.11819983284926416,anchored_exact,1.0,Brugada,gene_context_fallback,1,-0.0,Brugada,provocation_dependent,0.8,limited,0.25,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.442781475388979,False,False,False
+3:38581146:T:TGCAGCTGG,SCN5A,VCV002104041,2104041,NM_000335.5(SCN5A):c.3005_3012dup (p.Ile1005fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.846370191451896e-07,1.0,1460628.0,8.996883479562679e-07,1.0,nfe,1.314109533501488,8.996883479562679e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.66; detectability=0.38,2104041,2104041,,,,unmatched,-6.164539621739457,-6.0459079041190815,0.1186315659944688,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4438479127911195,False,False,True
+11:2445314:G:GC,KCNQ1,VCV001787905,1787905,NM_000218.3(KCNQ1):c.221dup (p.Val75fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1325352.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.64; detectability=0.38,1787905,1787905,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2847842:A:AC,KCNQ1,VCV001306529,1306529,NM_000218.3(KCNQ1):c.1875dup (p.Gly626fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1417300.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.64; detectability=0.38,1306529,1306529,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958081:C:CG,KCNH2,VCV003645049,3645049,NM_000238.4(KCNH2):c.893dup (p.Pro299fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1121302.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.83; detectability=0.38,3645049,3645049,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947472:T:TC,KCNH2,VCV000864600,864600,NM_000238.4(KCNH2):c.3007dup (p.Asp1003fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1424464.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.83; detectability=0.38,864600,864600,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+6:123512339:T:TC,TRDN,VCV000532312,532312,NM_006073.4(TRDN):c.573dup (p.Lys192fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1354634.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,532312,532312,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+7:150947795:GC:G,KCNH2,VCV001074305,1074305,NM_000238.4(KCNH2):c.2775del (p.Pro926fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,7.97089897247866e-06,,,7.97089897247866e-06,,,1.2545634789706644e-07,7.97089897247866e-06,global,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,1074305,1074305,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,variation_id,-5.098492695320329,-5.098492695320329,-6.9015073591646745,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-0.49643270399236605,True,False,True
+6:123503830:CCT:C,TRDN,VCV003592999,3592999,NM_006073.4(TRDN):c.680_681del (p.Gln227fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,4.12401745284186e-06,6.0,1454892.0,5.414810589925564e-06,6.0,nfe,1.3129940255709134,5.414810589925564e-06,popmax,0.0,False,False,False,False,True,0.390625,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,3592999,3592999,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,-5.384679505450385,-5.266416730393942,0.11826274995277866,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.2664167303939426,False,False,True
+3:38613790:C:CTGAAT,SCN5A,VCV002861576,2861576,NM_000335.5(SCN5A):c.655_656insATTCA (p.Arg219fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,4.113674539782661e-06,6.0,1458550.0,5.403010557482629e-06,6.0,nfe,1.3134267652446132,5.403010557482629e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.5866666666666666,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=insertion; gene_constraint=0.66; detectability=0.59,2861576,2861576,,,,unmatched,-5.385770071213905,-5.267364183848557,0.11840586217207445,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-0.6653041925205951,True,False,True
+7:150947387:AC:A,KCNH2,VCV000917819,917819,NM_000238.4(KCNH2):c.3092del (p.Gly1031fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.604154292403596e-06,5.0,1387288.0,4.655415458586356e-06,5.0,nfe,1.2916803192133486,4.655415458586356e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,917819,917819,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,variation_id,-5.443196625321954,-5.332041555644992,0.11115504246668188,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-0.7299815643170293,True,False,True
+11:2570664:GTGGTCCGCCTC:G,KCNQ1,VCV000519537,519537,NM_000218.3(KCNQ1):c.524_534del (p.Leu175fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.0543273721318167e-06,3.0,1460332.0,2.6979242171073577e-06,3.0,nfe,1.3132882034373443,2.6979242171073577e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,519537,519537,Cardiovascular phenotype|Long QT syndrome||Long QT syndrome 1,Cardiovascular phenotype|Long QT syndrome||Long QT syndrome 1,Cardiovascular phenotype|Long QT syndrome||Long QT syndrome 1,variation_id,-5.687330347213235,-5.568970253535253,0.11836004324685971,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-0.9669102622072909,True,False,False
+7:150947472:TC:T,KCNH2,VCV000837649,837649,NM_000238.4(KCNH2):c.3007del (p.Asp1003fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.404040829507322e-06,2.0,1424460.0,1.8277793212358715e-06,2.0,nfe,1.3017990510134867,1.8277793212358715e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,837649,837649,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.8526202627390465,-5.738076240415614,0.11454395061364096,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.136016249087652,False,False,False
+7:150950047:GCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGC:G,KCNH2,VCV004537402,4537402,NM_000238.4(KCNH2):c.2398+86_2398+120del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,1.3735848641936646e-06,2.0,1456044.0,1.802292155162936e-06,2.0,nfe,1.3121081121644589,1.802292155162936e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,4537402,4537402,,,,unmatched,-5.862144503398529,-5.744174807646243,0.11796962054425542,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1421148163182806,False,False,False
+3:38587442:CA:C,SCN5A,VCV003385945,3385945,NM_000335.5(SCN5A):c.2393del (p.Leu798fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3683877792024215e-06,2.0,1461574.0,1.7988749835852655e-06,2.0,nfe,1.3145942227279572,1.7988749835852655e-06,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.66; detectability=0.60,3385945,3385945,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,-5.863790813066815,-5.744999017769321,0.11879171934638616,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.1429390264413588,False,False,True
+1:115702951:CCTGAATAGGT:C,CASQ2,VCV002988469,2988469,NM_001232.4(CASQ2):c.974_983del (p.Asp325fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3685694343702527e-06,2.0,1461380.0,1.7988458604959058e-06,2.0,nfe,1.3143984520779486,1.7988458604959058e-06,popmax,0.0,False,False,False,False,False,0.5125,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.51; detectability=0.60,2988469,2988469,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.863733163764354,-5.745006048885716,0.11872703897356557,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.745006048885716,False,False,True
+11:2572033:TC:T,KCNQ1,VCV000656121,656121,NM_000218.3(KCNQ1):c.706del (p.Ile235_Leu236insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3692440403653143e-06,2.0,1460660.0,1.798784381514972e-06,2.0,nfe,1.3137059682429495,1.798784381514972e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,656121,656121,Long QT syndrome||Cardiovascular phenotype|Cardiac arrhythmia,Long QT syndrome||Cardiovascular phenotype|Cardiac arrhythmia,Long QT syndrome||Cardiovascular phenotype|Cardiac arrhythmia,variation_id,-5.863519140661796,-5.745020891979852,0.11849817294146892,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.14296090065189,False,False,True
+11:2445114:TC:T,KCNQ1,VCV000523933,523933,NM_000218.3(KCNQ1):c.20del (p.Pro7fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.0542451288603822e-06,1.0,948546.0,1.1995470510335298e-06,1.0,nfe,1.1378254263358936,1.1995470510335298e-06,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,523933,523933,,,,unmatched,-5.977058396966116,-5.920982712595298,0.05607563447129593,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.3189227212673353,False,False,False
+7:150948442:AC:A,KCNH2,VCV003076027,3076027,NM_000238.4(KCNH2):c.2692+1del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,8.761063032344092e-07,1.0,1141414.0,1.1032048099729716e-06,1.0,nfe,1.2592131191010063,1.1032048099729716e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3076027,3076027,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,-6.057443195079471,-5.957343853304137,0.10009923973186871,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.3552838619761753,False,False,False
+11:2445294:TCCCCGGCCGCG:T,KCNQ1,VCV000449221,449221,NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,8.033277046838826e-07,1.0,1244822.0,9.895679744137304e-07,1.0,nfe,1.2318356964514732,9.895679744137304e-07,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,449221,449221,"Long QT syndrome|Cardiovascular phenotype|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1|Long QT syndrome 1|KCNQ1-related disorder","Long QT syndrome|Cardiovascular phenotype|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1|Long QT syndrome 1|KCNQ1-related disorder","Long QT syndrome|Cardiovascular phenotype|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1|Long QT syndrome 1|KCNQ1-related disorder",variation_id,-6.095107255090803,-6.004554368310682,0.09055278503372446,anchored_exact,1.0,LQTS|SQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.40249437698272,False,False,True
+3:38581308:CAG:C,SCN5A,VCV001332487,1332487,NM_000335.5(SCN5A):c.2849_2850del (p.Pro950fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.857957974433533e-07,1.0,1458160.0,9.016856110813556e-07,1.0,nfe,1.314801431623534,9.016856110813556e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,1332487,1332487,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,-6.163805180569505,-6.044944860654155,0.11886016829204983,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.4428848693261924,False,False,True
+7:150947652:CA:C,KCNH2,VCV000858435,858435,NM_000238.4(KCNH2):c.2918del (p.Leu973fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.85348348858758e-07,1.0,1459112.0,9.000819074535783e-07,1.0,nfe,1.3133198549796452,9.000819074535783e-07,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,858435,858435,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,variation_id,-6.164088629189619,-6.045717967964516,0.11837051004651916,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4436579766365543,False,False,False
+12:2584592:GAGA:G,CACNA1C,VCV000411734,411734,NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,missense,6.845132973553145e-07,1.0,1460892.0,8.998033029979646e-07,1.0,nfe,1.3145149874508737,8.998033029979646e-07,popmax,0.0,False,False,False,False,False,0.7307692307692307,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.73; detectability=0.60,411734,411734,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,-6.16461811084344,-6.045852416959342,0.11876554208186885,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-1.4437924256313794,False,False,True
+3:38557229:AC:A,SCN5A,VCV001327132,1327132,NM_000335.5(SCN5A):c.4296+1del,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,6.843736954126432e-07,1.0,1461190.0,8.99647877820621e-07,1.0,nfe,1.314556022966598,8.99647877820621e-07,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.66; detectability=0.60,1327132,1327132,SUDDEN INFANT DEATH SYNDROME|Cardiovascular phenotype|Brugada syndrome 1,SUDDEN INFANT DEATH SYNDROME|Cardiovascular phenotype|Brugada syndrome 1,SUDDEN INFANT DEATH SYNDROME|Cardiovascular phenotype|Brugada syndrome 1,variation_id,-6.164706691352855,-6.045927440163924,0.11877909934066631,anchored_exact,1.0,Brugada|SADS,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4438674488359615,False,False,True
+3:38604874:CG:C,SCN5A,VCV003629463,3629463,NM_000335.5(SCN5A):c.1372del (p.Arg458fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.843924306197174e-07,1.0,1461150.0,8.99566948471006e-07,1.0,nfe,1.3144017873702387,8.99566948471006e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,3629463,3629463,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,-6.164694802401345,-6.045966509617412,0.11872814099646971,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.4439065182894497,False,False,True
+6:123570976:CACGTGATTATCAGGGCA:C,TRDN,VCV001677487,1677487,NM_006073.4(TRDN):c.162_178del (p.Ile54fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.84147080675992e-07,1.0,1461674.0,8.994148407046376e-07,1.0,nfe,1.314650827955176,8.994148407046376e-07,popmax,0.0,False,False,False,False,True,0.390625,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,1677487,1677487,,,,unmatched,-6.16485052187741,-6.046039950676286,0.11881041926773844,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.0460399506762856,False,False,True
+11:2768851:GAACACCATCGGGCCACCATT:G,KCNQ1,VCV002009452,2009452,NM_000218.3(KCNQ1):c.1525_1544del (p.His509fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.841161902937595e-07,1.0,1461740.0,8.99363071073066e-07,1.0,nfe,1.3146345155964867,8.99363071073066e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,2009452,2009452,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.16487013144062,-6.046064949054553,0.11880503045181316,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440049577265899,False,False,False
+4:113359097:ACAGT:A,ANK2,VCV000570614,570614,NM_001148.6(ANK2):c.10483_10486del (p.Ser3495fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.841218065194071e-07,1.0,1461728.0,8.993468942853699e-07,1.0,nfe,1.3146000772302235,8.993468942853699e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.61; detectability=0.60,570614,570614,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164866566131348,-6.0460727607526765,0.11879365345831436,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4440127694247145,False,False,True
+4:113358978:AG:A,ANK2,VCV001342783,1342783,NM_001148.6(ANK2):c.10367del (p.Gly3456fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.84114318239035e-07,1.0,1461744.0,8.993291004910337e-07,1.0,nfe,1.3145884568203765,8.993291004910337e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.61; detectability=0.60,1342783,1342783,,,,unmatched,-6.16487131987054,-6.046081353458328,0.11878981449446016,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4440213621303657,False,False,True
+7:150951697:AG:A,KCNH2,VCV000405341,405341,NM_000238.4(KCNH2):c.1695del (p.Cys566fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840890465030052e-07,1.0,1461798.0,8.992999848917603e-07,1.0,nfe,1.3145944594412535,8.992999848917603e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,405341,405341,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164887363356165,-6.0460954138826875,0.11879179754790824,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440354225547252,False,False,False
+7:150949032:CA:C,KCNH2,VCV000418689,418689,NM_000238.4(KCNH2):c.2415del (p.Phe805fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840675202005138e-07,1.0,1461844.0,8.992918975598614e-07,1.0,nfe,1.3146240047652844,8.992918975598614e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,418689,418689,,,,unmatched,-6.16490102956165,-6.046099319475336,0.11880155814511069,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440393281473738,False,False,False
+7:150951021:TC:T,KCNH2,VCV000810745,810745,NM_000238.4(KCNH2):c.2044del (p.Glu682fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840656484121468e-07,1.0,1461848.0,8.992789581313703e-07,1.0,nfe,1.3146086864763482,8.992789581313703e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,810745,810745,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164902217907022,-6.046105568350519,0.11879649762051017,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.444045577022557,False,False,False
+7:150948956:TGTAGGTCACA:T,KCNH2,VCV000503760,503760,NM_000238.4(KCNH2):c.2482_2491del (p.Cys828fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840478669335365e-07,1.0,1461886.0,8.992757233324281e-07,1.0,nfe,1.3146381301144725,8.992757233324281e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,503760,503760,,,,unmatched,-6.164913507025877,-6.046107130555266,0.11880622451985212,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440471392273042,False,False,False
+3:38551026:GCT:G,SCN5A,VCV002428920,2428920,NM_000335.5(SCN5A):c.5341_5342del (p.Ser1781fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840441235821475e-07,1.0,1461894.0,8.992708711776492e-07,1.0,nfe,1.3146382309816362,8.992708711776492e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,2428920,2428920,,,,unmatched,-6.164915883645086,-6.046109473851851,0.11880625784160807,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4440494825238885,False,False,True
+11:2445203:CT:C,KCNQ1,VCV003862980,3862980,NM_000218.3(KCNQ1):c.107del (p.Phe36fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,998778.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,3862980,3862980,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445284:GC:G,KCNQ1,VCV003076068,3076068,NM_000218.3(KCNQ1):c.191del (p.Pro64fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1165068.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,3076068,3076068,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572978:TG:T,KCNQ1,VCV001457672,1457672,NM_000218.3(KCNQ1):c.919del (p.Val307fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1460810.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,1457672,1457672,Long QT syndrome|Cardiovascular phenotype|Congenital long QT syndrome,Long QT syndrome|Cardiovascular phenotype|Congenital long QT syndrome,Long QT syndrome|Cardiovascular phenotype|Congenital long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445270:GC:G,KCNQ1,VCV000635221,635221,NM_000218.3(KCNQ1):c.176del (p.Pro59fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1083286.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,635221,635221,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445294:TC:T,KCNQ1,VCV000405258,405258,NM_000218.3(KCNQ1):c.200del (p.Pro67fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1244822.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,405258,405258,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958217:GC:G,KCNH2,VCV004727450,4727450,NM_000238.4(KCNH2):c.757del (p.Ala253fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1219196.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,4727450,4727450,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150977840:TG:T,KCNH2,VCV004528252,4528252,NM_000238.4(KCNH2):c.73del (p.Gln25fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,982894.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,4528252,4528252,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958426:GC:G,KCNH2,VCV003720792,3720792,NM_000238.4(KCNH2):c.548del (p.Gly183fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1297264.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3720792,3720792,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958200:CG:C,KCNH2,VCV003644294,3644294,NM_000238.4(KCNH2):c.774del (p.Asp259fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1212186.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3644294,3644294,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948519:CG:C,KCNH2,VCV003376533,3376533,NM_000238.4(KCNH2):c.2616del (p.Gly873fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1461446.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3376533,3376533,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947431:C:CGGGGGGGGGGGGG,KCNH2,VCV003076044,3076044,NM_000238.4(KCNH2):c.3048_3049insCCCCCCCCCCCCC (p.Ala1017fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,0.0,0.0,1294084.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.5866666666666666,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=insertion; gene_constraint=0.83; detectability=0.59,3076044,3076044,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947425:T:TGGGGGGG,KCNH2,VCV003076029,3076029,NM_000238.4(KCNH2):c.3054_3055insCCCCCCC (p.Thr1019fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,0.0,0.0,1287706.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.5866666666666666,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=insertion; gene_constraint=0.83; detectability=0.59,3076029,3076029,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958228:TG:T,KCNH2,VCV002584422,2584422,NM_000238.4(KCNH2):c.746del (p.Pro249fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1225122.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,2584422,2584422,KCNH2-related disorder,KCNH2-related disorder,KCNH2-related disorder,variation_id,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974709:AC:A,KCNH2,VCV001382290,1382290,NM_000238.4(KCNH2):c.307+1del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,0.0,0.0,1438648.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,1382290,1382290,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958305:CT:C,KCNH2,VCV001070517,1070517,NM_000238.4(KCNH2):c.669del (p.Leu225fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1328332.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,1070517,1070517,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947808:GC:G,KCNH2,VCV000653333,653333,NM_000238.4(KCNH2):c.2762del (p.Gly921fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1378096.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,653333,653333,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150977867:TC:T,KCNH2,VCV000638156,638156,NM_000238.4(KCNH2):c.46del (p.Asp16fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1392070.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,638156,638156,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947425:TG:T,KCNH2,VCV000523705,523705,NM_000238.4(KCNH2):c.3054del (p.Thr1019fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1287714.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,523705,523705,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947678:CG:C,KCNH2,VCV000418247,418247,NM_000238.4(KCNH2):c.2892del (p.Gly965fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1451776.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,418247,418247,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,0.0,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+3:38603785:GC:G,SCN5A,VCV001254662,1254662,NM_000335.5(SCN5A):c.1816del (p.Ala606fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1413208.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.66; detectability=0.60,1254662,1254662,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+12:2585484:AC:A,CACNA1C,VCV001334090,1334090,NM_000719.7(CACNA1C):c.2451del (p.Ala818fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1402792.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.73; detectability=0.60,1334090,1334090,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+1:115705187:C:G,CASQ2,VCV001455253,1455253,NM_001232.4(CASQ2):c.939+5G>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,3.47015940524244e-06,5.0,1440856.0,4.575293779613589e-06,5.0,nfe,1.3184678070505331,4.575293779613589e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,1455253,1455253,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,-5.459650574999586,-5.33958101465353,0.12006953011656153,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.33958101465353,False,False,True
+1:115726991:C:T,CASQ2,VCV002202832,2202832,NM_001232.4(CASQ2):c.737+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.4284758230741907e-06,5.0,1458374.0,4.505194489246101e-06,5.0,nfe,1.3140516100110182,4.505194489246101e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,2202832,2202832,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,-5.464898908745636,-5.346286455787436,0.11861242268405969,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.3462864557874368,False,False,True
+1:115744903:G:A,CASQ2,VCV002914975,2914975,NM_001232.4(CASQ2):c.244C>T (p.Gln82Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.423808617315433e-06,5.0,1460362.0,4.501244143881369e-06,5.0,nfe,1.3146890881773796,4.501244143881369e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2914975,2914975,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.465490519335655,-5.346667430637412,0.11882305833602977,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.3466674306374116,False,False,True
+1:115702947:G:A,CASQ2,VCV001425730,1425730,NM_001232.4(CASQ2):c.988C>T (p.Gln330Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.4213767620090325e-06,5.0,1461400.0,4.497138920218957e-06,5.0,nfe,1.314423671701846,4.497138920218957e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,1425730,1425730,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.4657990986731795,-5.347063696520862,0.11873537178801932,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.3470636965208613,False,False,True
+1:115725508:C:T,CASQ2,VCV000427947,427947,NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.738473082178839e-06,4.0,1460668.0,3.598442594045297e-06,4.0,nfe,1.3140323720654798,3.598442594045297e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,427947,427947,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.5624915236118255,-5.443885421221095,0.11860606449029754,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.443885421221095,False,False,True
+1:115738281:C:A,CASQ2,VCV000654552,654552,NM_001232.4(CASQ2):c.475G>T (p.Glu159Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.7365508786380734e-06,4.0,1461694.0,3.597652891253746e-06,4.0,nfe,1.314666796320421,3.597652891253746e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,654552,654552,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.562796472934832,-5.443980740569425,0.11881569438006946,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.443980740569425,False,False,True
+1:237388137:G:T,RYR2,VCV002626900,2626900,NM_001035.3(RYR2):c.727G>T (p.Glu243Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052595712538076e-06,3.0,1461564.0,2.698200839680101e-06,3.0,nfe,1.3145309174463802,2.698200839680101e-06,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,2626900,2626900,RYR2-related disorder,RYR2-related disorder,RYR2-related disorder,variation_id,-5.68769658258466,-5.568925726895951,0.11877080506273381,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,-0.9668657355679884,True,False,True
+7:150959571:C:T,KCNH2,VCV000419715,419715,NM_000238.4(KCNH2):c.472+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.0523569951851703e-06,3.0,1461734.0,2.698021271199702e-06,3.0,nfe,1.3145963216598953,2.698021271199702e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,419715,419715,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.68774709406998,-5.568954630672922,0.11879241275718556,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-0.9668946393449595,True,False,False
+17:70175754:G:T,KCNJ2,VCV000463523,463523,NM_000891.3(KCNJ2):c.715G>T (p.Glu239Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052146408333356e-06,3.0,1461884.0,2.6978320221869704e-06,3.0,nfe,1.3146390026523511,2.6978320221869704e-06,popmax,0.0,False,False,False,False,True,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,463523,463523,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,-5.687791658149379,-5.568985094733933,0.11880651276515058,anchored_exact,1.0,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-0.9669251034059707,True,False,True
+15:73343471:G:A,HCN4,VCV000571947,571947,NM_005477.3(HCN4):c.1123C>T (p.Arg375Cys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0521492158737845e-06,3.0,1461882.0,2.6978320221869704e-06,3.0,nfe,1.314637204098756,2.6978320221869704e-06,popmax,0.0,False,False,False,False,False,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.50; detectability=0.81,571947,571947,Brugada syndrome 8||Cardiovascular phenotype,Brugada syndrome 8||Cardiovascular phenotype,Brugada syndrome 8||Cardiovascular phenotype,variation_id,-5.687791063991733,-5.568985094733933,0.11880591860779292,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,-0.9669251034059707,True,False,False
+3:38585690:C:A,SCN5A,VCV000406420,406420,NM_000335.5(SCN5A):c.2787+1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.5024444771643463e-06,1.0,665582.0,2.0315788618282585e-06,1.0,nfe,1.3521820876073176,2.0315788618282585e-06,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,406420,406420,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,-5.823201568381257,-5.6921663145671575,0.13103517852745789,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.0901063232391948,False,False,True
+1:115726990:A:T,CASQ2,VCV001033372,1033372,NM_001232.4(CASQ2):c.737+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.5389374252653512e-06,2.0,1299598.0,1.9958008350430693e-06,2.0,nfe,1.296869193904846,1.9958008350430693e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,1033372,1033372,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,-5.812779038657447,-5.699882800001281,0.11289617405620116,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.6998828000012813,False,False,True
+7:150958430:G:T,KCNH2,VCV000372376,372376,NM_000238.4(KCNH2):c.545C>A (p.Ser182Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.5324754535744223e-06,2.0,1305078.0,1.915719822144572e-06,2.0,nfe,1.2500817338343122,1.915719822144572e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,372376,372376,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,-5.814606473065701,-5.717668007049792,0.09693840932227195,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.115608015721829,False,False,False
+1:115740727:C:T,CASQ2,VCV002997913,2997913,NM_001232.4(CASQ2):c.420+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3897903223340694e-06,2.0,1439066.0,1.832653113586008e-06,2.0,nfe,1.318654163495695,1.832653113586008e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,2997913,2997913,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,-5.857050716812234,-5.7369197309527955,0.12013091034609931,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.736919730952795,False,False,True
+12:2566466:G:A,CACNA1C,VCV000372313,372313,NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.385381180704965e-06,2.0,1443646.0,1.8129572051451725e-06,2.0,nfe,1.3086339859103944,1.8129572051451725e-06,popmax,0.0,False,False,False,False,False,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.73; detectability=0.81,372313,372313,Hypertrophic cardiomyopathy 1|Long QT syndrome|Long QT syndrome 8|Cardiac arrhythmia|Timothy syndrome|Cardiovascular phenotype,Hypertrophic cardiomyopathy 1|Long QT syndrome|Long QT syndrome 8|Cardiac arrhythmia|Timothy syndrome|Cardiovascular phenotype,Hypertrophic cardiomyopathy 1|Long QT syndrome|Long QT syndrome 8|Cardiac arrhythmia|Timothy syndrome|Cardiovascular phenotype,variation_id,-5.858430716202212,-5.741612447304745,0.11681819496408928,anchored_exact,1.0,LQTS|arrhythmia|cardiomyopathy_overlap,assertion_condition_label,3,1.584962500721156,LQTS,structural_electrical,0.7,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-1.1395524559767827,False,False,True
+3:38575391:C:T,SCN5A,VCV004757644,4757644,NM_000335.5(SCN5A):c.3569G>A (p.Trp1190Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3728588550082577e-06,2.0,1456814.0,1.802120013984452e-06,2.0,nfe,1.3126766052705447,1.802120013984452e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4757644,4757644,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,-5.862374110718113,-5.744216290118542,0.11815774524735485,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.1421562987905798,False,False,True
+3:38557230:C:T,SCN5A,VCV001739478,1739478,NM_000335.5(SCN5A):c.4296+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3704318367760864e-06,2.0,1459394.0,1.8015648392193456e-06,2.0,nfe,1.3145962289239144,1.8015648392193456e-06,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,1739478,1739478,Cardiovascular phenotype|Brugada syndrome|Brugada syndrome 1,Cardiovascular phenotype|Brugada syndrome|Brugada syndrome 1,Cardiovascular phenotype|Brugada syndrome|Brugada syndrome 1,variation_id,-5.863142560743384,-5.744350102784581,0.11879238212061255,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.1422901114566184,False,False,True
+3:38579405:C:A,SCN5A,VCV003376789,3376789,NM_000335.5(SCN5A):c.3316G>T (p.Glu1106Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.370383008347003e-06,2.0,1459446.0,1.8000990054452994e-06,2.0,nfe,1.313573417728825,1.8000990054452994e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3376789,3376789,Sick sinus syndrome 1,Sick sinus syndrome 1,Sick sinus syndrome 1,variation_id,-5.863158034913302,-5.744703608043295,0.1184543512168256,anchored_exact,1.0,conduction,assertion_condition_label,1,-0.0,conduction,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.1426436167153324,False,False,True
+3:38554314:A:G,SCN5A,VCV002505148,2505148,NM_000335.5(SCN5A):c.4775T>C (p.Ile1592Thr),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,1.3689291414897782e-06,2.0,1460996.0,1.7997555931904448e-06,2.0,nfe,1.3147176314138331,1.7997555931904448e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2505148,2505148,Primary dilated cardiomyopathy,Primary dilated cardiomyopathy,Primary dilated cardiomyopathy,variation_id,-5.863619031235198,-5.744786468083148,0.11883248720832675,anchored_exact,1.0,cardiomyopathy_overlap,assertion_condition_label,1,-0.0,cardiomyopathy_overlap,structural_electrical,0.7,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.1427264767551852,False,False,True
+11:2445453:G:A,KCNQ1,VCV002801649,2801649,NM_000218.3(KCNQ1):c.355G>A (p.Gly119Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.3843723740186531e-06,2.0,1444698.0,1.7994155498294154e-06,2.0,nfe,1.299805806439304,1.7994155498294154e-06,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,2801649,2801649,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.858747075898401,-5.744868530841418,0.11387847269792188,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.142808539513456,False,False,False
+1:115768427:C:A,CASQ2,VCV000488772,488772,NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.368531975749613e-06,2.0,1461420.0,1.7992245342257486e-06,2.0,nfe,1.3147111294415277,1.7992245342257486e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,488772,488772,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,-5.863745050844741,-5.744914635492492,0.1188303393876778,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.744914635492492,False,False,True
+3:38606149:C:T,SCN5A,VCV000463294,463294,NM_000335.5(SCN5A):c.1141-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3687398969886353e-06,2.0,1461198.0,1.7989623585116103e-06,2.0,nfe,1.314319870524441,1.7989623585116103e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,463294,463294,,,,unmatched,-5.86367907344012,-5.744977923737119,0.11870107382181504,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.142917932409157,False,False,True
+3:38585786:C:A,SCN5A,VCV002844180,2844180,NM_000335.5(SCN5A):c.2692G>T (p.Glu898Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.368183708762943e-06,2.0,1461792.0,1.7986646713479913e-06,2.0,nfe,1.314636583662941,1.7986646713479913e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2844180,2844180,,,,unmatched,-5.863855585111937,-5.745049795496874,0.11880571364484684,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.1429898041689115,False,False,True
+11:2776984:A:C,KCNQ1,VCV003384908,3384908,NM_000218.3(KCNQ1):c.1686-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3682061722516842e-06,2.0,1461768.0,1.7986582009820674e-06,2.0,nfe,1.3146102706229643,1.7986582009820674e-06,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,3384908,3384908,Jervell and Lange-Nielsen syndrome,Jervell and Lange-Nielsen syndrome,Jervell and Lange-Nielsen syndrome,variation_id,-5.863848454717783,-5.745051357794347,0.11879702095930023,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1429913664663844,False,False,False
+4:113355864:C:T,ANK2,VCV002499833,2499833,NM_001148.6(ANK2):c.7246C>T (p.Arg2416Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681743491936664e-06,2.0,1461802.0,1.7986290849114804e-06,2.0,nfe,1.31461956683513,1.7986290849114804e-06,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2499833,2499833,,,,unmatched,-5.863858556074949,-5.745058388063428,0.1188000920439111,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.1429983967354658,False,False,True
+4:113311389:C:T,ANK2,VCV003337797,3337797,NM_001148.6(ANK2):c.2683C>T (p.Arg895Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681537585920056e-06,2.0,1461824.0,1.7985837951197228e-06,2.0,nfe,1.3146062489090642,1.7985837951197228e-06,popmax,0.0,False,False,False,False,False,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.61; detectability=0.81,3337797,3337797,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-5.863865092122038,-5.745069323811355,0.11879569234437509,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.1430093324833928,False,False,True
+7:150952811:G:A,KCNH2,VCV003340202,3340202,NM_000238.4(KCNH2):c.1171C>T (p.Gln391Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681780930060105e-06,2.0,1461798.0,1.7985611510791366e-06,2.0,nfe,1.3145663168463837,1.7985611510791366e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,3340202,3340202,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,-5.863857367692184,-5.7450747915820575,0.11878250015250426,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1430148002540952,False,False,False
+11:2662047:G:T,KCNQ1,VCV002773480,2773480,NM_000218.3(KCNQ1):c.1480G>T (p.Glu494Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3680994772491897e-06,2.0,1461882.0,1.7985417423552984e-06,2.0,nfe,1.3146276697246606,1.7985417423552984e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.64; detectability=0.81,2773480,2773480,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id,-5.863882323047414,-5.745079478187869,0.11880276888628769,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1430194868599073,False,False,True
+4:113373351:C:T,ANK2,VCV000985692,985692,NM_001148.6(ANK2):c.11761C>T (p.Gln3921Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681575022916638e-06,,,1.3681575022916638e-06,,,7.309094657709624e-07,1.3681575022916638e-06,global,0.0,False,False,False,False,False,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.61; detectability=0.81,985692,985692,"Cardiac arrhythmia, ankyrin-B-related||Cardiovascular phenotype","Cardiac arrhythmia, ankyrin-B-related||Cardiovascular phenotype","Cardiac arrhythmia, ankyrin-B-related||Cardiovascular phenotype",variation_id,-5.8638639037571565,-5.8638639037571565,-6.136136413672907,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.261803912429194,False,False,True
+1:237491910:G:A,RYR2,VCV004800056,4800056,NM_001035.3(RYR2):c.1813G>A (p.Gly605Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,8.828400611631594e-07,1.0,1132708.0,1.188591424075157e-06,1.0,nfe,1.346326622494387,1.188591424075157e-06,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,4800056,4800056,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.054117967821953,-5.924967407588051,0.12915043369103862,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,-1.3229074162600885,False,False,True
+6:123265339:C:A,TRDN,VCV003780743,3780743,NM_006073.4(TRDN):c.1784-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.908301660585183e-07,1.0,1264494.0,1.009801129765504e-06,1.0,nfe,1.2768871196595997,1.009801129765504e-06,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,3780743,3780743,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.101916772966249,-5.995764147751594,0.10615250613124208,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.9957641477515944,False,False,True
+6:123547339:C:A,TRDN,VCV002434223,2434223,NM_006073.4(TRDN):c.424+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.672194738715736e-07,1.0,1303408.0,9.723786131158318e-07,1.0,nfe,1.2674057148253322,9.723786131158318e-07,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,2434223,2434223,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,-6.115080382261232,-6.01216460177021,0.10291566105931012,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-3.0121646017702104,False,False,True
+7:150948443:C:T,KCNH2,VCV003253477,3253477,NM_000238.4(KCNH2):c.2692+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.140001142400183e-07,1.0,1400560.0,9.379947922529134e-07,1.0,nfe,1.3137175468574929,9.379947922529134e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3253477,3253477,,,,unmatched,-6.146301718736703,-6.027799572817206,0.11850200066728123,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4257395814892433,False,False,False
+7:150947870:G:A,KCNH2,VCV000927383,927383,NM_000238.4(KCNH2):c.2701C>T (p.Gln901Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.256662341695911e-07,1.0,1378044.0,9.289001265161972e-07,1.0,nfe,1.2800648600031863,9.289001265161972e-07,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,927383,927383,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id,-6.139263084518002,-6.032030977970395,0.10723197560711273,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4299709866424328,False,False,False
+1:115740830:T:C,CASQ2,VCV003236407,3236407,NM_001232.4(CASQ2):c.320-2A>G,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.904131984910329e-07,1.0,1448408.0,9.091454578183782e-07,1.0,nfe,1.3168130953931796,9.091454578183782e-07,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,3236407,3236407,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,-6.160890914892737,-6.04136662670755,0.11952413684504527,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-3.0413666267075494,False,False,True
+3:38622399:C:G,SCN5A,VCV001743359,1743359,NM_000335.5(SCN5A):c.482+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.915447588514272e-07,1.0,1446038.0,9.088017448993502e-07,1.0,nfe,1.3141614033014393,9.088017448993502e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,1743359,1743359,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-6.160179705803235,-6.04153084778685,0.11864870788618453,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4394708564588883,False,False,True
+7:150947500:C:T,KCNH2,VCV003544410,3544410,NM_000238.4(KCNH2):c.2980G>A (p.Val994Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.956705638131652e-07,1.0,1437462.0,9.081860255599876e-07,1.0,nfe,1.3054824615540808,9.081860255599876e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3544410,3544410,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,-6.1575963727297065,-6.041825184959691,0.11577104168830236,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.439765193631729,False,False,False
+3:38609733:C:T,SCN5A,VCV001072847,1072847,NM_000335.5(SCN5A):c.934+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.89303389994072e-07,1.0,1450740.0,9.06547630919076e-07,1.0,nfe,1.315164452857862,9.06547630919076e-07,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,1072847,1072847,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,variation_id,-6.161589585640299,-6.042609372702631,0.11898006195364752,anchored_exact,1.0,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.4405493813746684,False,False,True
+3:38556452:G:A,SCN5A,VCV002506125,2506125,NM_000335.5(SCN5A):c.4423C>T (p.Gln1475Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.918940461133544e-07,1.0,1445308.0,9.058397678151508e-07,1.0,nfe,1.3092170162275525,9.058397678151508e-07,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,2506125,2506125,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),variation_id,-6.159960406571302,-6.042948617011904,0.11701164130882298,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.4408886256839415,False,False,True
+1:115768539:C:T,CASQ2,VCV002811031,2811031,NM_001232.4(CASQ2):c.3G>A (p.Met1Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.879301283127276e-07,1.0,1453636.0,9.052477210388624e-07,1.0,nfe,1.3159002170161198,9.052477210388624e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2811031,2811031,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.162455669946475,-6.043232559845933,0.11922295854672765,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-3.0432325598459324,False,False,True
+12:2448979:C:T,CACNA1C,VCV001208559,1208559,NM_000719.7(CACNA1C):c.481C>T (p.Arg161Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.877020984541832e-07,1.0,1454118.0,9.03404389099884e-07,1.0,nfe,1.3136561273761245,9.03404389099884e-07,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,1208559,1208559,,,,unmatched,-6.162599650449773,-6.044117803793188,0.11848169587234009,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-1.442057812465226,False,False,True
+3:38620870:C:T,SCN5A,VCV004614939,4614939,NM_000335.5(SCN5A):c.584G>A (p.Trp195Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.886388364758219e-07,1.0,1452140.0,9.031253556056088e-07,1.0,nfe,1.3114640015997934,9.031253556056088e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4614939,4614939,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-6.16200848846908,-6.044251964559872,0.11775637413252348,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4421919732319097,False,False,True
+3:38556580:T:G,SCN5A,VCV004723996,4723996,NM_000335.5(SCN5A):c.4297-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.868782892884078e-07,1.0,1455862.0,9.02880731261162e-07,1.0,nfe,1.3144692893514494,9.02880731261162e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4723996,4723996,,,,unmatched,-6.163120210499755,-6.044369615330105,0.11875044390681275,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4423096240021422,False,False,True
+1:115732900:C:A,CASQ2,VCV003485292,3485292,NM_001232.4(CASQ2):c.606+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.861675483919663e-07,1.0,1457370.0,9.025515131276118e-07,1.0,nfe,1.3153510391036438,9.025515131276118e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,3485292,3485292,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-6.163569825317389,-6.044528001357354,0.11904167221773877,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.044528001357354,False,False,True
+1:115705285:G:T,CASQ2,VCV002794330,2794330,NM_001232.4(CASQ2):c.846C>A (p.Tyr282Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.86050803434096e-07,1.0,1457618.0,9.023935085420568e-07,1.0,nfe,1.3153445614821466,9.023935085420568e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2794330,2794330,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.163643722727445,-6.044604037490281,0.1190395334714152,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-3.044604037490281,False,False,True
+3:38556579:C:T,SCN5A,VCV002203336,2203336,NM_000335.5(SCN5A):c.4297-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.857092702407663e-07,1.0,1458344.0,9.01297146853752e-07,1.0,nfe,1.3144008278267272,9.01297146853752e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2203336,2203336,,,,unmatched,-6.163859979180978,-6.045132003733958,0.11872782395140151,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4430720124059953,False,False,True
+1:115732970:G:T,CASQ2,VCV002865838,2865838,NM_001232.4(CASQ2):c.537C>A (p.Tyr179Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.853596219008038e-07,1.0,1459088.0,9.012305401795612e-07,1.0,nfe,1.31497420683443,9.012305401795612e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2865838,2865838,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.164081485698723,-6.045164099674874,0.11891723424072807,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-3.045164099674875,False,False,True
+6:123636754:C:G,TRDN,VCV003225249,3225249,NM_006073.4(TRDN):c.22G>C (p.Gly8Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.851398644519292e-07,1.0,1459556.0,9.005195998090898e-07,1.0,nfe,1.3143583261953748,9.005195998090898e-07,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,3225249,3225249,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-6.1642207625816,-6.045506830322182,0.11871378065348921,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.0455068303221817,False,False,True
+3:38609765:C:T,SCN5A,VCV003338801,3338801,NM_000335.5(SCN5A):c.903G>A (p.Trp301Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.850206533726992e-07,1.0,1459810.0,9.004985159784457e-07,1.0,nfe,1.3145562794180925,9.004985159784457e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3338801,3338801,,,,unmatched,-6.164296334331549,-6.0455169985611645,0.11877918406543736,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4434570072332018,False,False,True
+3:38562434:G:C,SCN5A,VCV003367171,3367171,NM_000335.5(SCN5A):c.3941C>G (p.Ser1314Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,LOF,6.854404228893233e-07,1.0,1458916.0,9.002407243696964e-07,1.0,nfe,1.313375139446535,9.002407243696964e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3367171,3367171,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,-6.164030287241851,-6.0456413446868185,0.11838879137644873,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.4435813533588564,False,False,True
+3:38622461:T:C,SCN5A,VCV002734486,2734486,NM_000335.5(SCN5A):c.421A>G (p.Ile141Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.851135781289822e-07,1.0,1459612.0,9.00009000090001e-07,1.0,nfe,1.3136634788123889,9.00009000090001e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2734486,2734486,,,,unmatched,-6.164237425199845,-6.045753147594141,0.1184841262490603,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4436931562661788,False,False,True
+7:150974870:C:A,KCNH2,VCV003720794,3720794,NM_000238.4(KCNH2):c.148G>T (p.Glu50Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.851408032864834e-07,1.0,1459554.0,8.998972317361358e-07,1.0,nfe,1.3134481466749075,8.998972317361358e-07,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,3720794,3720794,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,-6.164220167476267,-6.045807084158768,0.11841293204597676,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4437470928308056,False,False,False
+11:2572011:A:C,KCNQ1,VCV000573008,573008,NM_000218.3(KCNQ1):c.684-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.850675819169561e-07,1.0,1459710.0,8.997595842390913e-07,1.0,nfe,1.3133876052546227,8.997595842390913e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,573008,573008,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164266583243557,-6.045873518545591,0.11839291343252398,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4438135272176287,False,False,False
+4:113345930:C:T,ANK2,VCV003338732,3338732,NM_001148.6(ANK2):c.4279C>T (p.Arg1427Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.843043840644669e-07,1.0,1461338.0,8.996155043334479e-07,1.0,nfe,1.3146418620735227,8.996155043334479e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3338732,3338732,,,,unmatched,-6.164750677643749,-6.045943068367087,0.11880745738149259,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4438830770391253,False,False,True
+11:2572021:G:T,KCNQ1,VCV000519257,519257,NM_000218.3(KCNQ1):c.692G>T (p.Arg231Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.8483018950621e-07,1.0,1460216.0,8.9957989618848e-07,1.0,nfe,1.3135804997974945,8.9957989618848e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,519257,519257,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-6.164417102818398,-6.045960258741038,0.11845669268857806,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4439002674130756,False,False,False
+3:38606682:C:A,SCN5A,VCV003338339,3338339,NM_000335.5(SCN5A):c.1127G>T (p.Arg376Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.845236057965459e-07,1.0,1460870.0,8.995620931730434e-07,1.0,nfe,1.314142816131888,8.995620931730434e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3338339,3338339,Atrial fibrillation,Atrial fibrillation,Atrial fibrillation,variation_id,-6.164611570626542,-6.045968853672857,0.11864256529042963,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.4439088623448948,False,False,True
+1:237445485:A:T,RYR2,VCV003720290,3720290,NM_001035.3(RYR2):c.1255A>T (p.Ile419Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842641150001642e-07,1.0,1461424.0,8.995378174693842e-07,1.0,nfe,1.3146056955850631,8.995378174693842e-07,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,3720290,3720290,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.1647762351988655,-6.04598057376031,0.11879550954773074,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,-1.443920582432347,False,False,True
+1:237441382:G:A,RYR2,VCV000519533,519533,NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842332140486764e-07,1.0,1461490.0,8.995167795860064e-07,1.0,nfe,1.3146343183622424,8.995167795860064e-07,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,519533,519533,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy,variation_id,-6.16479584811653,-6.045990730913602,0.11880496529473009,anchored_exact,1.0,CPVT|arrhythmia|cardiomyopathy_overlap,assertion_condition_label,3,1.584962500721156,CPVT,structural_electrical,0.7,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,-1.44393073958564,False,False,True
+1:115768343:G:A,CASQ2,VCV001784131,1784131,NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842023158879988e-07,1.0,1461556.0,8.995151613280442e-07,1.0,nfe,1.3146913211909823,8.995151613280442e-07,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,1784131,1784131,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.164815460148506,-6.045991512223247,0.11882379598926718,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-3.0459915122232473,False,False,True
+3:38557231:C:A,SCN5A,VCV001527872,1527872,NM_000335.5(SCN5A):c.4296G>T (p.Gly1432=),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,other_or_unresolved,6.842828442079563e-07,1.0,1461384.0,8.995119248295874e-07,1.0,nfe,1.314531875103312,8.995119248295874e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,1527872,1527872,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,-6.164764348151015,-6.04599307483832,0.11877112145313894,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.4439330835103572,False,False,True
+1:115701358:C:T,CASQ2,VCV002574853,2574853,NM_001232.4(CASQ2):c.1083G>A (p.Trp361Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.841751652625111e-07,1.0,1461614.0,8.994730886646602e-07,1.0,nfe,1.3146819990718934,8.994730886646602e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2574853,2574853,,,,unmatched,-6.164832694233389,-6.046011825780659,0.11882071651413235,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.046011825780659,False,False,True
+4:113317711:C:T,ANK2,VCV002631072,2631072,NM_001148.6(ANK2):c.2698C>T (p.Arg900Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842659878748067e-07,1.0,1461420.0,8.994682343798347e-07,1.0,nfe,1.3145004074701925,8.994682343798347e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2631072,2631072,ANK2-related disorder,ANK2-related disorder,ANK2-related disorder,variation_id,-6.164775046508722,-6.046014169591529,0.11876072506545396,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4439541782635663,False,False,True
+3:38585767:C:T,SCN5A,VCV004747274,4747274,NM_000335.5(SCN5A):c.2711G>A (p.Trp904Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.841536335399477e-07,1.0,1461660.0,8.994035155884617e-07,1.0,nfe,1.3146216827251025,8.994035155884617e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4747274,4747274,,,,unmatched,-6.164846362159262,-6.046045419194488,0.11880079104354802,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4439854278665258,False,False,True
+1:237784136:G:A,RYR2,VCV001009997,1009997,NM_001035.3(RYR2):c.12424G>A (p.Ala4142Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.841424001357339e-07,1.0,1461684.0,8.993986620545503e-07,1.0,nfe,1.3146361740478818,8.993986620545503e-07,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,1009997,1009997,Catecholaminergic polymorphic ventricular tachycardia 1|Paroxysmal familial ventricular fibrillation,Catecholaminergic polymorphic ventricular tachycardia 1|Paroxysmal familial ventricular fibrillation,Catecholaminergic polymorphic ventricular tachycardia 1|Paroxysmal familial ventricular fibrillation,variation_id,-6.164853493080266,-6.046047762824068,0.11880557832715535,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,-1.4439877714961054,False,False,True
+4:113353464:T:C,ANK2,VCV004689790,4689790,NM_001148.6(ANK2):c.4846T>C (p.Cys1616Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840993421700726e-07,1.0,1461776.0,8.993210126354602e-07,1.0,nfe,1.314605412683571,8.993210126354602e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,4689790,4689790,,,,unmatched,-6.164880827192824,-6.046085259177423,0.11879541608809442,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4440252678494607,False,False,True
+11:2585278:C:T,KCNQ1,VCV001791538,1791538,NM_000218.3(KCNQ1):c.1099C>T (p.Gln367Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.841676758139885e-07,1.0,1461630.0,8.993096898820465e-07,1.0,nfe,1.3144575624016888,8.993096898820465e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,1791538,1791538,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-6.164837448343351,-6.046090727125146,0.1187465693603854,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440307357971842,False,False,False
+4:113341707:C:T,ANK2,VCV003376712,3376712,NM_001148.6(ANK2):c.3913C>T (p.Arg1305Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840834308152222e-07,1.0,1461810.0,8.992999848917603e-07,1.0,nfe,1.3146052510215225,8.992999848917603e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3376712,3376712,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id,-6.1648909284947075,-6.0460954138826875,0.11879536268124002,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4440354225547252,False,False,True
+11:2777974:A:G,KCNQ1,VCV001415094,1415094,NM_000218.3(KCNQ1):c.1733-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842163601605445e-07,1.0,1461526.0,8.992951324751659e-07,1.0,nfe,1.3143427583657852,8.992951324751659e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,1415094,1415094,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164806545698307,-6.046097757242491,0.11870863665098107,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440377659145291,False,False,False
+4:113330289:C:T,ANK2,VCV000809661,809661,NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840693919991244e-07,1.0,1461840.0,8.992935150146045e-07,1.0,nfe,1.3146227720607964,8.992935150146045e-07,popmax,0.0,False,False,False,False,False,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.61; detectability=0.81,809661,809661,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-6.164899841213027,-6.046098538359616,0.11880115091307626,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.444038547031654,False,False,True
+17:70176216:G:T,KCNJ2,VCV000638351,638351,NM_000891.3(KCNJ2):c.1177G>T (p.Gly393Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840750074564176e-07,1.0,1461828.0,8.992886626678298e-07,1.0,nfe,1.314604887272155,8.992886626678298e-07,popmax,0.0,False,False,False,False,True,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,638351,638351,Andersen Tawil syndrome,Andersen Tawil syndrome,Andersen Tawil syndrome,variation_id,-6.1648962761476485,-6.046100881702562,0.11879524251256973,anchored_exact,1.0,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-1.444040890374599,False,False,True
+15:73329725:C:T,HCN4,VCV000970883,970883,NM_005477.3(HCN4):c.1438G>A (p.Gly480Ser),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840675202005138e-07,1.0,1461844.0,8.992870452305412e-07,1.0,nfe,1.314616911427151,8.992870452305412e-07,popmax,0.0,False,False,False,False,False,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.50; detectability=0.81,970883,970883,Brugada syndrome 8|Left ventricular noncompaction cardiomyopathy|Cardiovascular phenotype|HCN4-related disorder,Brugada syndrome 8|Left ventricular noncompaction cardiomyopathy|Cardiovascular phenotype|HCN4-related disorder,Brugada syndrome 8|Left ventricular noncompaction cardiomyopathy|Cardiovascular phenotype|HCN4-related disorder,variation_id,-6.16490102956165,-6.046101662814067,0.1187992148089861,anchored_exact,1.0,Brugada|cardiomyopathy_overlap,assertion_condition_label,2,1.0,Brugada,structural_electrical,0.7,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,-1.4440416714861042,False,False,True
+11:2572904:T:C,KCNQ1,VCV002735505,2735505,NM_000218.3(KCNQ1):c.839T>C (p.Val280Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842322776997754e-07,1.0,1461492.0,8.992854277990709e-07,1.0,nfe,1.3142979991009085,8.992854277990709e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,2735505,2735505,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164796442433541,-6.046102443924167,0.11869384672451685,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440424525962046,False,False,False
+15:73329721:T:C,HCN4,VCV001504964,1504964,NM_005477.3(HCN4):c.1442A>G (p.Tyr481Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840656484121468e-07,1.0,1461848.0,8.992838103734187e-07,1.0,nfe,1.314615779706313,8.992838103734187e-07,popmax,0.0,False,False,False,False,True,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,1504964,1504964,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id,-6.164902217907022,-6.046103225032862,0.11879884093556156,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,-1.4440432337049,False,False,False
+7:150950951:C:T,KCNH2,VCV001405357,1405357,NM_000238.4(KCNH2):c.2115G>A (p.Trp705Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840506744739651e-07,1.0,1461880.0,8.992741059416839e-07,1.0,nfe,1.3146303700421835,8.992741059416839e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1405357,1405357,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164911724552935,-6.0461079116555325,0.1188036609501185,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440479203275705,False,False,False
+17:70175958:A:G,KCNJ2,VCV000519476,519476,NM_000891.3(KCNJ2):c.919A>G (p.Met307Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840478669335365e-07,1.0,1461886.0,8.992741059416839e-07,1.0,nfe,1.3146357656770435,8.992741059416839e-07,popmax,0.0,False,False,False,False,False,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.50; detectability=0.81,519476,519476,Cardiovascular phenotype|Andersen Tawil syndrome;Short QT syndrome type 3|Cardiac arrhythmia,Cardiovascular phenotype|Andersen Tawil syndrome;Short QT syndrome type 3|Cardiac arrhythmia,Cardiovascular phenotype|Andersen Tawil syndrome;Short QT syndrome type 3|Cardiac arrhythmia,variation_id,-6.164913507025877,-6.0461079116555325,0.11880544342045442,anchored_exact,1.0,SQTS|arrhythmia,assertion_condition_label,2,1.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-1.4440479203275705,False,False,True
+7:150951556:T:C,KCNH2,VCV002049671,2049671,NM_000238.4(KCNH2):c.1837A>G (p.Thr613Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840488027777854e-07,1.0,1461884.0,8.992708711776492e-07,1.0,nfe,1.314629238289217,8.992708711776492e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,2049671,2049671,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164912912869042,-6.046109473851851,0.11880328706990778,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440494825238885,False,False,False
+7:150958158:G:A,KCNH2,VCV001076382,1076382,NM_000238.4(KCNH2):c.817C>T (p.Arg273Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,8.45374281009174e-07,,,8.45374281009174e-07,,,1.1829066007303187e-06,8.45374281009174e-07,global,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,1076382,1076382,Long QT syndrome|Long QT syndrome 2||Cardiac arrhythmia,Long QT syndrome|Long QT syndrome 2||Cardiac arrhythmia,Long QT syndrome|Long QT syndrome 2||Cardiac arrhythmia,variation_id,-6.072950968933901,-6.072950968933901,-5.927049544796213,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4708909776059382,False,False,True
+11:2571404:G:T,KCNQ1,VCV004614411,4614411,NM_000218.3(KCNQ1):c.683+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1457628.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,4614411,4614411,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445143:G:A,KCNQ1,VCV004531894,4531894,NM_000218.3(KCNQ1):c.45G>A (p.Trp15Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,978626.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,4531894,4531894,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2571378:C:T,KCNQ1,VCV004081467,4081467,NM_000218.3(KCNQ1):c.658C>T (p.Gln220Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1460484.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,4081467,4081467,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572057:G:T,KCNQ1,VCV002904944,2904944,NM_000218.3(KCNQ1):c.728G>T (p.Arg243Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1460642.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,2904944,2904944,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445447:C:A,KCNQ1,VCV001489978,1489978,NM_000218.3(KCNQ1):c.349C>A (p.Pro117Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1445140.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,1489978,1489978,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2775960:C:T,KCNQ1,VCV000965523,965523,NM_000218.3(KCNQ1):c.1591C>T (p.Gln531Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1404394.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,965523,965523,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445251:C:A,KCNQ1,VCV000933168,933168,NM_000218.3(KCNQ1):c.153C>A (p.Tyr51Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1046344.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.64; detectability=0.81,933168,933168,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,,,0.0,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True
+11:2570756:T:C,KCNQ1,VCV000869440,869440,NM_000218.3(KCNQ1):c.604+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1458098.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,869440,869440,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445149:G:A,KCNQ1,VCV000663623,663623,NM_000218.3(KCNQ1):c.51G>A (p.Trp17Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,983778.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,663623,663623,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2776056:T:C,KCNQ1,VCV000637975,637975,NM_000218.3(KCNQ1):c.1685+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1402144.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,637975,637975,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445100:T:A,KCNQ1,VCV000488859,488859,NM_000218.3(KCNQ1):c.2T>A (p.Met1Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,936200.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,488859,488859,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445222:G:T,KCNQ1,VCV000488698,488698,NM_000218.3(KCNQ1):c.124G>T (p.Glu42Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,987170.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,488698,488698,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572089:G:A,KCNQ1,VCV000444879,444879,NM_000218.2(KCNQ1):c.[1249G>A;760G>A],Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,other_or_unresolved,0.0,0.0,1460076.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,444879,444879,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445103:C:G,KCNQ1,VCV000431053,431053,NM_000218.3(KCNQ1):c.5C>G (p.Ala2Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,940006.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,431053,431053,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445213:G:T,KCNQ1,VCV000375455,375455,NM_000218.3(KCNQ1):c.115G>T (p.Glu39Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,992758.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,375455,375455,"Jervell and Lange-Nielsen syndrome 1|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1","Jervell and Lange-Nielsen syndrome 1|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1","Jervell and Lange-Nielsen syndrome 1|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1",variation_id,,,0.0,anchored_exact,1.0,LQTS|SQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True
+7:150958504:T:G,KCNH2,VCV004730168,4730168,NM_000238.4(KCNH2):c.473-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1323936.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,4730168,4730168,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974834:G:A,KCNH2,VCV004725502,4725502,NM_000238.4(KCNH2):c.184C>T (p.Arg62Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1456028.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,4725502,4725502,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947786:C:A,KCNH2,VCV003895444,3895444,NM_000238.4(KCNH2):c.2785G>T (p.Glu929Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1381744.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3895444,3895444,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958442:G:T,KCNH2,VCV003730888,3730888,NM_000238.4(KCNH2):c.533C>A (p.Ser178Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1311954.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3730888,3730888,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950422:T:C,KCNH2,VCV003720789,3720789,NM_000238.4(KCNH2):c.2146-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1458974.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3720789,3720789,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948486:G:A,KCNH2,VCV003720786,3720786,NM_000238.4(KCNH2):c.2650C>T (p.Gln884Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1373460.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3720786,3720786,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948443:C:A,KCNH2,VCV003544414,3544414,NM_000238.4(KCNH2):c.2692+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1400560.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3544414,3544414,Hypertrophic cardiomyopathy 26,Hypertrophic cardiomyopathy 26,Hypertrophic cardiomyopathy 26,variation_id,,,0.0,anchored_exact,1.0,cardiomyopathy_overlap,assertion_condition_label,1,-0.0,cardiomyopathy_overlap,structural_electrical,0.7,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958110:C:A,KCNH2,VCV003338695,3338695,NM_000238.4(KCNH2):c.865G>T (p.Glu289Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1144896.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3338695,3338695,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150945490:C:A,KCNH2,VCV003254535,3254535,NM_000238.4(KCNH2):c.3355G>T (p.Glu1119Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1407476.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3254535,3254535,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958287:C:A,KCNH2,VCV002831712,2831712,NM_000238.4(KCNH2):c.688G>T (p.Glu230Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1311050.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,2831712,2831712,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958446:C:A,KCNH2,VCV002136630,2136630,NM_000238.4(KCNH2):c.529G>T (p.Glu177Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1314472.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,2136630,2136630,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947458:G:A,KCNH2,VCV001968021,1968021,NM_000238.4(KCNH2):c.3022C>T (p.Gln1008Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1416682.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,1968021,1968021,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958335:C:A,KCNH2,VCV001810619,1810619,NM_000238.4(KCNH2):c.640G>T (p.Glu214Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1337032.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1810619,1810619,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974768:G:A,KCNH2,VCV001792370,1792370,NM_000238.4(KCNH2):c.250C>T (p.Gln84Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1453842.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1792370,1792370,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947344:G:A,KCNH2,VCV001728012,1728012,NM_000238.4(KCNH2):c.3136C>T (p.Gln1046Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1391714.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1728012,1728012,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958504:T:C,KCNH2,VCV001466419,1466419,NM_000238.4(KCNH2):c.473-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1323936.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1466419,1466419,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974786:C:T,KCNH2,VCV001197726,1197726,NM_000238.4(KCNH2):c.232G>A (p.Ala78Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1452442.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,1197726,1197726,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974942:C:A,KCNH2,VCV001171507,1171507,NM_000238.4(KCNH2):c.77-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1440802.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1171507,1171507,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,0.0,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150977837:C:T,KCNH2,VCV001066606,1066606,NM_000238.4(KCNH2):c.76+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1395200.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1066606,1066606,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950166:A:T,KCNH2,VCV000560686,560686,NM_000238.4(KCNH2):c.2398+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,550050.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,560686,560686,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947327:C:A,KCNH2,VCV000373026,373026,NM_000238.4(KCNH2):c.3152+1G>T,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1388730.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,373026,373026,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+3:38550937:G:T,SCN5A,VCV004756584,4756584,NM_000335.5(SCN5A):c.5432C>A (p.Ser1811Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461814.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4756584,4756584,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,0.0,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38613754:G:C,SCN5A,VCV003950971,3950971,NM_000335.5(SCN5A):c.692C>G (p.Ser231Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1450430.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3950971,3950971,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38597755:C:A,SCN5A,VCV003717482,3717482,NM_000335.5(SCN5A):c.2236G>T (p.Glu746Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1456158.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3717482,3717482,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38581200:G:A,SCN5A,VCV003662749,3662749,NM_000335.5(SCN5A):c.2959C>T (p.Gln987Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1458838.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3662749,3662749,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38560152:G:A,SCN5A,VCV003662441,3662441,NM_000335.5(SCN5A):c.4237C>T (p.Gln1413Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1459868.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3662441,3662441,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38606687:C:T,SCN5A,VCV002910169,2910169,NM_000335.5(SCN5A):c.1122G>A (p.Trp374Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461218.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2910169,2910169,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38579496:C:T,SCN5A,VCV001965471,1965471,NM_001099404.2(SCN5A):c.3229-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1455140.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,1965471,1965471,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38613808:C:T,SCN5A,VCV001684121,1684121,NM_000335.5(SCN5A):c.638G>A (p.Gly213Asp),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1457634.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,1684121,1684121,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38556559:C:T,SCN5A,VCV001375303,1375303,NM_000335.5(SCN5A):c.4316G>A (p.Trp1439Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461152.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,1375303,1375303,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38566558:C:A,SCN5A,VCV000979202,979202,NM_000335.5(SCN5A):c.3688G>T (p.Glu1230Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461610.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,979202,979202,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,0.0,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38613824:C:A,SCN5A,VCV000858096,858096,NM_000335.5(SCN5A):c.622G>T (p.Glu208Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1455108.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,858096,858096,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+21:34449585:C:T,KCNE1,VCV000547163,547163,NM_000219.6(KCNE1):c.50G>A (p.Trp17Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,LOF,0.0,0.0,908958.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.4166666666666667,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.42; detectability=0.81,547163,547163,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False
+1:237828429:T:C,RYR2,VCV004746934,4746934,NM_001035.3(RYR2):c.14639T>C (p.Val4880Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1413372.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,4746934,4746934,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237795313:C:A,RYR2,VCV002828493,2828493,NM_001035.3(RYR2):c.13938C>A (p.Asp4646Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1276004.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,2828493,2828493,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237491911:G:T,RYR2,VCV002737123,2737123,NM_001035.3(RYR2):c.1814G>T (p.Gly605Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1129636.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,2737123,2737123,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237772037:G:T,RYR2,VCV002203008,2203008,NM_001035.3(RYR2):c.11583G>T (p.Gln3861His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1394334.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,2203008,2203008,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237778753:C:A,RYR2,VCV001804987,1804987,NM_001035.3(RYR2):c.11863C>A (p.Gln3955Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1448574.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,1804987,1804987,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237042549:G:T,RYR2,VCV001678118,1678118,NM_001035.3(RYR2):c.28G>T (p.Glu10Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1108862.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,1678118,1678118,,,,unmatched,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237772077:G:T,RYR2,VCV001480581,1480581,NM_001035.3(RYR2):c.11623G>T (p.Val3875Leu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1386722.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,1480581,1480581,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1|Arrhythmogenic right ventricular dysplasia 2,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1|Arrhythmogenic right ventricular dysplasia 2,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1|Arrhythmogenic right ventricular dysplasia 2,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia|cardiomyopathy_overlap,assertion_condition_label,3,1.584962500721156,CPVT,structural_electrical,0.7,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237828428:G:A,RYR2,VCV001439521,1439521,NM_001035.3(RYR2):c.14638G>A (p.Val4880Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1413512.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,1439521,1439521,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237772075:C:T,RYR2,VCV001328938,1328938,NM_001035.3(RYR2):c.11621C>T (p.Thr3874Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,,,0.0,,,1.0,0.0,global,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,1328938,1328938,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237772033:C:T,RYR2,VCV001035886,1035886,NM_001035.3(RYR2):c.11579C>T (p.Thr3860Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,,,0.0,,,1.0,0.0,global,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,1035886,1035886,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237784046:G:A,RYR2,VCV001021015,1021015,NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1461680.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,1021015,1021015,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237783718:G:A,RYR2,VCV000869430,869430,NM_001035.3(RYR2):c.12006G>A (p.Met4002Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1459208.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,869430,869430,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237772044:A:G,RYR2,VCV000656670,656670,NM_001035.3(RYR2):c.11590A>G (p.Asn3864Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1400372.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,656670,656670,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237772078:T:C,RYR2,VCV000581079,581079,NM_001035.3(RYR2):c.11624T>C (p.Val3875Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1384914.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,581079,581079,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237369568:A:G,RYR2,VCV000572162,572162,NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1412948.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,572162,572162,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237042565:G:C,RYR2,VCV000463600,463600,NM_001035.3(RYR2):c.44G>C (p.Arg15Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1109590.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,463600,463600,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237772077:G:A,RYR2,VCV000404183,404183,NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1386722.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,404183,404183,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:115705191:C:T,CASQ2,VCV002754358,2754358,NM_001232.4(CASQ2):c.939+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1449556.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2754358,2754358,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115726993:T:A,CASQ2,VCV002505552,2505552,NM_001232.4(CASQ2):c.736A>T (p.Arg246Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1209268.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2505552,2505552,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115702920:C:T,CASQ2,VCV001457736,1457736,NM_001232.4(CASQ2):c.1014+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1459946.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,1457736,1457736,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+6:123512333:C:A,TRDN,VCV003894738,3894738,NM_006073.4(TRDN):c.580G>T (p.Glu194Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1350466.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,3894738,3894738,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
+6:123438943:C:T,TRDN,VCV003717909,3717909,NM_006073.4(TRDN):c.991+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1406010.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,3717909,3717909,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+6:123547340:C:A,TRDN,VCV002762883,2762883,NM_006073.4(TRDN):c.424G>T (p.Glu142Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1302576.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,2762883,2762883,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+6:123278327:C:A,TRDN,VCV002434224,2434224,NM_006073.4(TRDN):c.1558G>T (p.Glu520Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1144364.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,2434224,2434224,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+6:123548540:C:T,TRDN,VCV001799347,1799347,NM_006073.4(TRDN):c.305G>A (p.Trp102Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1423754.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,1799347,1799347,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
+6:123548453:C:T,TRDN,VCV001517713,1517713,NM_006073.4(TRDN):c.391+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1401032.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.39; detectability=0.81,1517713,1517713,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+2:47160803:C:G,CALM2,VCV001467722,1467722,NM_001743.6(CALM2):c.423G>C (p.Glu141Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1220958.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.75,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.75; detectability=0.81,1467722,1467722,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113264996:G:A,ANK2,VCV003721367,3721367,NM_001148.6(ANK2):c.1485+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1405178.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3721367,3721367,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113264927:C:T,ANK2,VCV002446019,2446019,NM_001148.6(ANK2):c.1417C>T (p.Arg473Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1415518.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2446019,2446019,See cases,See cases,See cases,variation_id,,,0.0,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2595878:C:T,CACNA1C,VCV003899523,3899523,NM_000719.7(CACNA1C):c.2668C>T (p.Arg890Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1461100.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,3899523,3899523,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2566430:G:A,CACNA1C,VCV003601972,3601972,NM_000719.7(CACNA1C):c.1517G>A (p.Trp506Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1440630.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,3601972,3601972,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2566465:C:A,CACNA1C,VCV003233417,3233417,NM_000719.7(CACNA1C):c.1552C>A (p.Arg518Ser),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,0.0,0.0,1443586.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,3233417,3233417,Timothy syndrome;Long QT syndrome,Timothy syndrome;Long QT syndrome,Timothy syndrome;Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2581622:C:T,CACNA1C,VCV001707563,1707563,NM_000719.7(CACNA1C):c.1928C>T (p.Ser643Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1426284.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,1707563,1707563,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2666684:A:G,CACNA1C,VCV001218634,1218634,NM_000719.7(CACNA1C):c.4527-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1427552.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,1218634,1218634,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+11:2571331:T:TC,KCNQ1,VCV004811016,4811016,NM_000218.3(KCNQ1):c.612dup (p.Val205fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4811016,4811016,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2585246:A:AGCAGAAGCAGAG,KCNQ1,VCV004750132,4750132,NM_000218.3(KCNQ1):c.1077_1088dup (p.Lys362_His363insGlnArgGlnLys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4750132,4750132,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445473:C:G,KCNQ1,VCV004732891,4732891,NM_000218.3(KCNQ1):c.375C>G (p.Tyr125Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4732891,4732891,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2778034:C:CA,KCNQ1,VCV004719475,4719475,NM_000218.3(KCNQ1):c.1793dup (p.Val599fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4719475,4719475,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2527967:GT:G,KCNQ1,VCV004714005,4714005,NM_000218.3(KCNQ1):c.427del (p.Ser143fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4714005,4714005,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2583471:C:A,KCNQ1,VCV004709530,4709530,NM_000218.3(KCNQ1):c.958C>A (p.Pro320Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4709530,4709530,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2777975:G:A,KCNQ1,VCV004688928,4688928,NM_000218.3(KCNQ1):c.1733-1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4688928,4688928,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572936:TC:T,KCNQ1,VCV004278376,4278376,NM_000218.3(KCNQ1):c.872del (p.Glu290_Ser291insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4278376,4278376,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2768837:ACTGCAGG:A,KCNQ1,VCV004090692,4090692,NM_000218.3(KCNQ1):c.1515-2_1519del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4090692,4090692,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2778007:C:CA,KCNQ1,VCV004084700,4084700,NM_000218.3(KCNQ1):c.1764_1765insA (p.Gly589fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4084700,4084700,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2777984:AAGGATCGCGGC:A,KCNQ1,VCV004084699,4084699,NM_000218.3(KCNQ1):c.1744_1754del (p.Asp582fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4084699,4084699,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2775999:CAGTAC:GTGAG,KCNQ1,VCV004076475,4076475,NM_000218.3(KCNQ1):c.1630_1635delinsGTGAG (p.Gln544fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4076475,4076475,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572977:G:A,KCNQ1,VCV004070996,4070996,NM_000218.3(KCNQ1):c.912G>A (p.Trp304Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4070996,4070996,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2778014:C:G,KCNQ1,VCV003901502,3901502,NM_000218.3(KCNQ1):c.1771C>G (p.Arg591Gly),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3901502,3901502,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2585274:C:G,KCNQ1,VCV003898708,3898708,NM_000218.3(KCNQ1):c.1095C>G (p.Asn365Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3898708,3898708,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2585218:C:T,KCNQ1,VCV003895224,3895224,NM_000218.3(KCNQ1):c.1039C>T (p.Leu347Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3895224,3895224,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2768895:C:G,KCNQ1,VCV003895223,3895223,NM_000218.3(KCNQ1):c.1566C>G (p.Tyr522Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3895223,3895223,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2775970:AG:A,KCNQ1,VCV003894930,3894930,NM_000218.3(KCNQ1):c.1602del (p.Lys534fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894930,3894930,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2775959:G:C,KCNQ1,VCV003894017,3894017,NM_000218.3(KCNQ1):c.1591-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894017,3894017,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2662020:TTCGCC:T,KCNQ1,VCV003893245,3893245,NM_000218.3(KCNQ1):c.1454_1458del (p.Ser484_Phe485insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3893245,3893245,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2662017:AGC:A,KCNQ1,VCV003893242,3893242,NM_000218.3(KCNQ1):c.1451_1452del (p.Ser484fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3893242,3893242,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2571344:C:TT,KCNQ1,VCV003862988,3862988,NM_000218.3(KCNQ1):c.624delinsTT (p.Ser209fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3862988,3862988,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2571394:C:A,KCNQ1,VCV003774956,3774956,NM_000218.3(KCNQ1):c.674C>A (p.Ser225Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3774956,3774956,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2583446:CACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGGTCGGGAAG:C,KCNQ1,VCV003769591,3769591,NM_000218.3(KCNQ1):c.941_985del (p.Gly314_Ile328del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3769591,3769591,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2768920:G:C,KCNQ1,VCV003726879,3726879,NM_000218.3(KCNQ1):c.1590+1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3726879,3726879,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2527959:A:C,KCNQ1,VCV003719869,3719869,NM_000218.3(KCNQ1):c.418A>C (p.Ser140Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3719869,3719869,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2570713:G:A,KCNQ1,VCV003693769,3693769,NM_000218.3(KCNQ1):c.563G>A (p.Trp188Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3693769,3693769,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2587651:ACT:A,KCNQ1,VCV003669101,3669101,NM_000218.3(KCNQ1):c.1213_1214del (p.Leu405fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3669101,3669101,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572945:GTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTG:CAC,KCNQ1,VCV003660922,3660922,NM_000218.3(KCNQ1):c.880_921+630delinsCAC,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3660922,3660922,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2768890:C:T,KCNQ1,VCV003659274,3659274,NM_000218.3(KCNQ1):c.1561C>T (p.Gln521Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3659274,3659274,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2528014:G:A,KCNQ1,VCV003659247,3659247,NM_000218.3(KCNQ1):c.473G>A (p.Trp158Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3659247,3659247,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445162:G:GGC,KCNQ1,VCV003648787,3648787,NM_000218.3(KCNQ1):c.67_68dup (p.Arg24fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3648787,3648787,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572032:A:C,KCNQ1,VCV003641656,3641656,NM_000218.3(KCNQ1):c.703A>C (p.Ile235Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3641656,3641656,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572026:C:A,KCNQ1,VCV003603667,3603667,NM_000218.3(KCNQ1):c.697C>A (p.Leu233Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3603667,3603667,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2570626:A:G,KCNQ1,VCV003601179,3601179,NM_000218.3(KCNQ1):c.478-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3601179,3601179,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2776985:G:T,KCNQ1,VCV003392793,3392793,NM_000218.3(KCNQ1):c.1686-1G>T,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3392793,3392793,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2661995:GC:G,KCNQ1,VCV003383201,3383201,NM_000218.3(KCNQ1):c.1432del (p.His478fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3383201,3383201,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2588714:TAAAG:T,KCNQ1,VCV003383071,3383071,NM_000218.3(KCNQ1):c.1257_1260del (p.Lys421fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3383071,3383071,"Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3","Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3","Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3",variation_id,,,,representation_repairable,0.45,LQTS|SQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True
+11:2572073:G:A,KCNQ1,VCV003382790,3382790,NM_000218.3(KCNQ1):c.744G>A (p.Trp248Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3382790,3382790,"Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3","Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3","Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3",variation_id,,,,locus_or_regional_context,0.25,LQTS|SQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True
+11:2583540:C:G,KCNQ1,VCV003376696,3376696,NM_000218.3(KCNQ1):c.1027C>G (p.Pro343Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3376696,3376696,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2585209:CA:C,KCNQ1,VCV003376665,3376665,NM_000218.3(KCNQ1):c.1033-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3376665,3376665,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445419:G:C,KCNQ1,VCV003376650,3376650,NM_000218.3(KCNQ1):c.321G>C (p.Gln107His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3376650,3376650,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2585213:G:T,KCNQ1,VCV003338779,3338779,NM_000218.3(KCNQ1):c.1034G>T (p.Gly345Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3338779,3338779,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2570658:G:A,KCNQ1,VCV003338330,3338330,NM_000218.3(KCNQ1):c.508G>A (p.Glu170Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3338330,3338330,Atrial fibrillation,Atrial fibrillation,Atrial fibrillation,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445320:AG:A,KCNQ1,VCV003337204,3337204,NM_000218.3(KCNQ1):c.223del (p.Val75fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3337204,3337204,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445305:GC:G,KCNQ1,VCV003335922,3335922,NM_000218.3(KCNQ1):c.210del (p.Ala71fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3335922,3335922,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2778014:C:A,KCNQ1,VCV003235934,3235934,NM_000218.3(KCNQ1):c.1771C>A (p.Arg591Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3235934,3235934,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2847776:CTGGACCAGAGGCTGGCACTCATCACCGACATGCTTCACCAGCTGCTCTCCTTGCACGGTGGCAGCACCCCCGGCAGCGGCGGCCCCCCCAGAGAGGGCGGGGCCCACATCACCCAGCCCTGCGGCAGTGGCGGCTCCGTCGACCCTGAGCTCTTCCTGCCCAGCAACACCCTGCCCACCTACGAGCAGCTGACCGTGCCCAGGAGGGGCCCCGATGAGGGGTCCTGAGGAGGGGATGGGGCTGGGGGATGGGCCTGAGTGAGAGGGGAGGCCAAGAGTGGCCCCACCTGGCCCTCTCTGAAGGAGGCCACCTCCTAAAAGGCCCAGAGAGAAGAGCCCCACTCTCAGAGGCCCCAATACCCCA:C,KCNQ1,VCV003235891,3235891,NM_000218.3(KCNQ1):c.1812_*143del (p.Gln604_Ter677delinsXaa),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3235891,3235891,"Atrial fibrillation, familial, 3;Short QT syndrome type 2;Long QT syndrome 1","Atrial fibrillation, familial, 3;Short QT syndrome type 2;Long QT syndrome 1","Atrial fibrillation, familial, 3;Short QT syndrome type 2;Long QT syndrome 1",variation_id,,,,representation_repairable,0.45,LQTS|SQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True
+11:2777033:G:T,KCNQ1,VCV003075923,3075923,NM_000218.3(KCNQ1):c.1732+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3075923,3075923,Jervell and Lange-Nielsen syndrome,Jervell and Lange-Nielsen syndrome,Jervell and Lange-Nielsen syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572976:G:T,KCNQ1,VCV002982293,2982293,NM_000218.3(KCNQ1):c.911G>T (p.Trp304Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2982293,2982293,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2587564:CCTCAGACCGCATGGAGGTGCTATGCTG:C,KCNQ1,VCV002971269,2971269,NM_000218.3(KCNQ1):c.1129-4_1151del,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2971269,2971269,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572980:G:C,KCNQ1,VCV002837284,2837284,NM_000218.3(KCNQ1):c.915G>C (p.Trp305Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2837284,2837284,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572047:CACGTCG:C,KCNQ1,VCV002836375,2836375,NM_000218.3(KCNQ1):c.721_726del (p.Val241_Asp242del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2836375,2836375,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2570735:G:GA,KCNQ1,VCV002828480,2828480,NM_000218.3(KCNQ1):c.587dup (p.Pro197fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2828480,2828480,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2571383:GT:G,KCNQ1,VCV002814371,2814371,NM_000218.3(KCNQ1):c.666del (p.Phe222fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2814371,2814371,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2585274:CC:AT,KCNQ1,VCV002811762,2811762,NM_000218.3(KCNQ1):c.1095_1096delinsAT (p.Asn365_Arg366delinsLysTrp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2811762,2811762,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2585215:AT:A,KCNQ1,VCV002807267,2807267,NM_000218.3(KCNQ1):c.1038del (p.Gly348fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2807267,2807267,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2777020:AT:A,KCNQ1,VCV002773484,2773484,NM_000218.3(KCNQ1):c.1721del (p.Ile574fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2773484,2773484,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True
+11:2588712:G:A,KCNQ1,VCV002773474,2773474,NM_000218.3(KCNQ1):c.1252-1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2773474,2773474,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True
+11:2776003:A:T,KCNQ1,VCV002770494,2770494,NM_000218.3(KCNQ1):c.1634A>T (p.Tyr545Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2770494,2770494,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445486:T:G,KCNQ1,VCV002748943,2748943,NM_000218.3(KCNQ1):c.386+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2748943,2748943,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2570677:G:C,KCNQ1,VCV002747611,2747611,NM_000218.3(KCNQ1):c.527G>C (p.Trp176Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2747611,2747611,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2662041:GA:G,KCNQ1,VCV002725492,2725492,NM_000218.3(KCNQ1):c.1476del (p.Glu494fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2725492,2725492,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2528019:G:C,KCNQ1,VCV002724418,2724418,NM_000218.3(KCNQ1):c.477+1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2724418,2724418,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572854:AAC:A,KCNQ1,VCV002723186,2723186,NM_000218.3(KCNQ1):c.790_791del (p.Thr264fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2723186,2723186,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572978:T:A,KCNQ1,VCV002719407,2719407,NM_000218.3(KCNQ1):c.913T>A (p.Trp305Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2719407,2719407,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2768884:CGCAT:C,KCNQ1,VCV002708573,2708573,NM_000218.3(KCNQ1):c.1559_1562del (p.Met520fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2708573,2708573,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2585300:TC:T,KCNQ1,VCV002692770,2692770,NM_000218.3(KCNQ1):c.1122del (p.Ile375fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2692770,2692770,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2778039:T:C,KCNQ1,VCV002587406,2587406,NM_000218.3(KCNQ1):c.1794+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2587406,2587406,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572976:G:A,KCNQ1,VCV002587403,2587403,NM_000218.3(KCNQ1):c.911G>A (p.Trp304Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2587403,2587403,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445453:G:GC,KCNQ1,VCV002577445,2577445,NM_000218.3(KCNQ1):c.355_356insC (p.Gly119fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2577445,2577445,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2587660:T:TG,KCNQ1,VCV002575074,2575074,NM_000218.3(KCNQ1):c.1219_1220insG (p.Ser407fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575074,2575074,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2585246:AGCAGAAGCAGAG:A,KCNQ1,VCV002575071,2575071,NM_000218.3(KCNQ1):c.1077_1088del (p.Gln359_Lys362del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575071,2575071,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2527927:G:C,KCNQ1,VCV002575070,2575070,NM_000218.3(KCNQ1):c.387-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575070,2575070,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2662053:CT:C,KCNQ1,VCV002575068,2575068,NM_000218.3(KCNQ1):c.1487del (p.Leu496fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575068,2575068,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2527938:GT:G,KCNQ1,VCV002575067,2575067,NM_000218.3(KCNQ1):c.398del (p.Val133fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2575067,2575067,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2778038:G:A,KCNQ1,VCV002575066,2575066,NM_000218.3(KCNQ1):c.1794+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2575066,2575066,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572850:T:A,KCNQ1,VCV002575065,2575065,NM_000218.3(KCNQ1):c.785T>A (p.Leu262Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575065,2575065,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2583533:T:G,KCNQ1,VCV002575064,2575064,NM_000218.3(KCNQ1):c.1020T>G (p.Phe340Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575064,2575064,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572975:T:G,KCNQ1,VCV002575063,2575063,NM_000218.3(KCNQ1):c.910T>G (p.Trp304Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575063,2575063,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572852:AT:A,KCNQ1,VCV002574107,2574107,NM_000218.3(KCNQ1):c.788del (p.Ile263fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2574107,2574107,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2585297:C:A,KCNQ1,VCV002574106,2574106,NM_000218.3(KCNQ1):c.1118C>A (p.Ser373Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2574106,2574106,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572882:C:A,KCNQ1,VCV002574013,2574013,NM_000218.3(KCNQ1):c.817C>A (p.Leu273Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2574013,2574013,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2768908:A:G,KCNQ1,VCV002574002,2574002,NM_000218.3(KCNQ1):c.1579A>G (p.Lys527Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2574002,2574002,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572040:GATGCTAC:G,KCNQ1,VCV002567545,2567545,NM_000218.3(KCNQ1):c.713_719del (p.Met238fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2567545,2567545,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2778024:G:T,KCNQ1,VCV002502702,2502702,NM_000218.3(KCNQ1):c.1781G>T (p.Arg594Leu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2502702,2502702,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445344:GC:G,KCNQ1,VCV002502315,2502315,NM_000218.3(KCNQ1):c.248del (p.Pro83fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2502315,2502315,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572862:T:A,KCNQ1,VCV002498480,2498480,NM_000218.3(KCNQ1):c.797T>A (p.Leu266Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2498480,2498480,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2583443:CA:C,KCNQ1,VCV002453279,2453279,NM_000218.3(KCNQ1):c.931del (p.Thr311fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2453279,2453279,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2570685:G:C,KCNQ1,VCV002446426,2446426,NM_000218.3(KCNQ1):c.535G>C (p.Gly179Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2446426,2446426,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2583546:G:T,KCNQ1,VCV002136962,2136962,NM_000218.3(KCNQ1):c.1032+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2136962,2136962,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572104:C:G,KCNQ1,VCV002136957,2136957,NM_000218.3(KCNQ1):c.775C>G (p.Arg259Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2136957,2136957,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2583460:G:C,KCNQ1,VCV002130527,2130527,NM_000218.3(KCNQ1):c.947G>C (p.Gly316Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2130527,2130527,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2768911:A:AAT,KCNQ1,VCV002129901,2129901,NM_000218.3(KCNQ1):c.1583_1584insTA (p.Lys528fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2129901,2129901,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2583470:GC:TT,KCNQ1,VCV002129108,2129108,NM_000218.3(KCNQ1):c.957_958delinsTT (p.Pro320Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2129108,2129108,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2570701:ACGTGGGCCTCTGGGGGCGGCTG:A,KCNQ1,VCV002102490,2102490,NM_000218.3(KCNQ1):c.554_575del (p.Val185fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2102490,2102490,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445430:A:C,KCNQ1,VCV002035007,2035007,NM_000218.3(KCNQ1):c.332A>C (p.Tyr111Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2035007,2035007,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2588739:C:CA,KCNQ1,VCV002028871,2028871,NM_000218.3(KCNQ1):c.1281dup (p.Asp428fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2028871,2028871,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2776027:TG:T,KCNQ1,VCV002023188,2023188,NM_000218.3(KCNQ1):c.1660del (p.Val554fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2023188,2023188,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2587681:A:T,KCNQ1,VCV002017757,2017757,NM_000218.3(KCNQ1):c.1240A>T (p.Lys414Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2017757,2017757,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2583546:G:C,KCNQ1,VCV002017498,2017498,NM_000218.3(KCNQ1):c.1032+1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2017498,2017498,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2571346:C:CA,KCNQ1,VCV002004187,2004187,NM_000218.3(KCNQ1):c.626_627insA (p.Met210fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2004187,2004187,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2768888:T:A,KCNQ1,VCV002000331,2000331,NM_000218.3(KCNQ1):c.1559T>A (p.Met520Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2000331,2000331,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2587665:CA:C,KCNQ1,VCV001879152,1879152,NM_000218.3(KCNQ1):c.1225del (p.Ser409fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1879152,1879152,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2571364:TG:T,KCNQ1,VCV001802109,1802109,NM_000218.3(KCNQ1):c.647del (p.Gly216fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1802109,1802109,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445203:C:CT,KCNQ1,VCV001786030,1786030,NM_000218.3(KCNQ1):c.107dup (p.Ser37fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1786030,1786030,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2776986:G:C,KCNQ1,VCV001778018,1778018,NM_000218.3(KCNQ1):c.1686G>C (p.Arg562Ser),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1778018,1778018,"Cardiovascular phenotype|Long QT syndrome|Atrial fibrillation, familial, 3","Cardiovascular phenotype|Long QT syndrome|Atrial fibrillation, familial, 3","Cardiovascular phenotype|Long QT syndrome|Atrial fibrillation, familial, 3",variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True
+11:2585210:A:AGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCT,KCNQ1,VCV001771701,1771701,NM_000218.3(KCNQ1):c.1033-1_1117dup,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1771701,1771701,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True
+11:2588779:G:GTCCCCCATATCACGTGCGA,KCNQ1,VCV001769838,1769838,NM_000218.3(KCNQ1):c.1319_1337dup (p.Glu449fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1769838,1769838,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2583481:G:A,KCNQ1,VCV001723453,1723453,NM_000218.3(KCNQ1):c.968G>A (p.Trp323Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1723453,1723453,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572886:T:A,KCNQ1,VCV001711271,1711271,NM_000218.3(KCNQ1):c.821T>A (p.Ile274Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1711271,1711271,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2570663:C:CGTGGTCCGCCT,KCNQ1,VCV001709048,1709048,NM_000218.3(KCNQ1):c.514_524dup (p.Gly179fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1709048,1709048,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2662026:G:T,KCNQ1,VCV001708065,1708065,NM_000218.3(KCNQ1):c.1459G>T (p.Glu487Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1708065,1708065,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445485:G:T,KCNQ1,VCV001522663,1522663,NM_000218.3(KCNQ1):c.386+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1522663,1522663,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2661959:A:G,KCNQ1,VCV001500718,1500718,NM_000218.3(KCNQ1):c.1394-2A>G,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1500718,1500718,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2585309:T:A,KCNQ1,VCV001500707,1500707,NM_000218.3(KCNQ1):c.1128+2T>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1500707,1500707,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2571324:G:A,KCNQ1,VCV001493047,1493047,NM_000218.3(KCNQ1):c.605-1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1493047,1493047,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2583531:T:C,KCNQ1,VCV001488375,1488375,NM_000218.3(KCNQ1):c.1018T>C (p.Phe340Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1488375,1488375,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445400:T:A,KCNQ1,VCV001457098,1457098,NM_000218.3(KCNQ1):c.302T>A (p.Leu101Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1457098,1457098,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2587588:G:GC,KCNQ1,VCV001454915,1454915,NM_000218.3(KCNQ1):c.1148dup (p.Ala384fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1454915,1454915,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572899:C:CT,KCNQ1,VCV001454509,1454509,NM_000218.3(KCNQ1):c.837dup (p.Val280fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1454509,1454509,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445457:GGAAATGCTTC:G,KCNQ1,VCV001454382,1454382,NM_000218.3(KCNQ1):c.361_370del (p.Lys121fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1454382,1454382,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572099:T:TCCACC,KCNQ1,VCV001452627,1452627,NM_000218.3(KCNQ1):c.771_775dup (p.Arg259fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1452627,1452627,"Long QT syndrome|Short QT syndrome type 2;Long QT syndrome 1;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1","Long QT syndrome|Short QT syndrome type 2;Long QT syndrome 1;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1","Long QT syndrome|Short QT syndrome type 2;Long QT syndrome 1;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1",variation_id,,,,locus_or_regional_context,0.25,LQTS|SQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True
+11:2572975:T:TGGTG,KCNQ1,VCV001451451,1451451,NM_000218.3(KCNQ1):c.913_916dup (p.Gly306fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1451451,1451451,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2583486:G:T,KCNQ1,VCV001449449,1449449,NM_000218.3(KCNQ1):c.973G>T (p.Gly325Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1449449,1449449,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2587647:CCACACTCTGCTGT:C,KCNQ1,VCV001445000,1445000,NM_000218.3(KCNQ1):c.1210_1222del (p.Thr404fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1445000,1445000,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2583456:T:A,KCNQ1,VCV001439097,1439097,NM_000218.3(KCNQ1):c.943T>A (p.Tyr315Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1439097,1439097,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2571394:C:G,KCNQ1,VCV001438413,1438413,NM_000218.3(KCNQ1):c.674C>G (p.Ser225Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1438413,1438413,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572096:TCATC:T,KCNQ1,VCV001437397,1437397,NM_000218.3(KCNQ1):c.770_773del (p.Ile257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1437397,1437397,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2588814:GC:G,KCNQ1,VCV001426804,1426804,NM_000218.3(KCNQ1):c.1354del (p.Arg452fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1426804,1426804,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True
+11:2583446:C:CACCATCGG,KCNQ1,VCV001416082,1416082,NM_000218.3(KCNQ1):c.934_941dup (p.Tyr315fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1416082,1416082,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572029:C:T,KCNQ1,VCV001414164,1414164,NM_000218.3(KCNQ1):c.700C>T (p.Gln234Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1414164,1414164,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True
+11:2583472:C:T,KCNQ1,VCV001411474,1411474,NM_000218.3(KCNQ1):c.959C>T (p.Pro320Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1411474,1411474,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572987:G:A,KCNQ1,VCV001384067,1384067,NM_000218.3(KCNQ1):c.921+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1384067,1384067,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2528020:T:C,KCNQ1,VCV001350731,1350731,NM_000218.3(KCNQ1):c.477+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1350731,1350731,Long QT syndrome|Familial prostate cancer,Long QT syndrome|Familial prostate cancer,Long QT syndrome|Familial prostate cancer,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2570625:CAGG:C,KCNQ1,VCV001343361,1343361,NM_000218.2(KCNQ1):c.478_480del,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1343361,1343361,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2588712:G:C,KCNQ1,VCV001342782,1342782,NM_000218.3(KCNQ1):c.1252-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,1342782,1342782,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,unanchored,0.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2571323:A:G,KCNQ1,VCV001342708,1342708,NM_000218.3(KCNQ1):c.605-2A>G,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1342708,1342708,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2768921:T:A,KCNQ1,VCV001331817,1331817,NM_000218.3(KCNQ1):c.1590+2T>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1331817,1331817,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572976:G:C,KCNQ1,VCV001212402,1212402,NM_000218.3(KCNQ1):c.911G>C (p.Trp304Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1212402,1212402,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2585276:G:T,KCNQ1,VCV001185948,1185948,NM_000218.3(KCNQ1):c.1097G>T (p.Arg366Leu),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1185948,1185948,Long QT syndrome|Cardiovascular phenotype|Cardiac arrhythmia,Long QT syndrome|Cardiovascular phenotype|Cardiac arrhythmia,Long QT syndrome|Cardiovascular phenotype|Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True
+11:2587690:G:GT,KCNQ1,VCV001179766,1179766,NM_000218.3(KCNQ1):c.1250dup (p.Val418fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1179766,1179766,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2778034:CAA:C,KCNQ1,VCV001171410,1171410,NM_000218.3(KCNQ1):c.1792_1793del (p.Lys598fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1171410,1171410,Cardiac arrhythmia|Cardiovascular phenotype|Long QT syndrome,Cardiac arrhythmia|Cardiovascular phenotype|Long QT syndrome,Cardiac arrhythmia|Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True
+11:2587622:TC:T,KCNQ1,VCV001076090,1076090,NM_000218.3(KCNQ1):c.1182del (p.Tyr395fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1076090,1076090,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445482:CG:C,KCNQ1,VCV001075209,1075209,NM_000218.3(KCNQ1):c.385del (p.Val129fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1075209,1075209,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445457:G:A,KCNQ1,VCV001074347,1074347,NM_000218.3(KCNQ1):c.359G>A (p.Trp120Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1074347,1074347,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445251:CGCGCCCATCGCGCCCG:C,KCNQ1,VCV001072801,1072801,NM_000218.3(KCNQ1):c.160_175del (p.Ile54fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1072801,1072801,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2777030:C:G,KCNQ1,VCV001069232,1069232,NM_000218.3(KCNQ1):c.1730C>G (p.Ser577Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1069232,1069232,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2588711:A:C,KCNQ1,VCV001067022,1067022,NM_000218.3(KCNQ1):c.1252-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1067022,1067022,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2661960:G:C,KCNQ1,VCV001066272,1066272,NM_000218.3(KCNQ1):c.1394-1G>C,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1066272,1066272,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2583463:A:C,KCNQ1,VCV001056776,1056776,NM_000218.3(KCNQ1):c.950A>C (p.Asp317Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1056776,1056776,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2585291:C:A,KCNQ1,VCV001038475,1038475,NM_000218.3(KCNQ1):c.1112C>A (p.Ala371Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1038475,1038475,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2778003:C:G,KCNQ1,VCV001037124,1037124,NM_000218.3(KCNQ1):c.1760C>G (p.Thr587Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1037124,1037124,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2768888:T:C,KCNQ1,VCV001018501,1018501,NM_000218.3(KCNQ1):c.1559T>C (p.Met520Thr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1018501,1018501,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572081:T:A,KCNQ1,VCV001004846,1004846,NM_000218.3(KCNQ1):c.752T>A (p.Leu251Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1004846,1004846,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2587654:CTG:C,KCNQ1,VCV000992394,992394,NM_000218.3(KCNQ1):c.1214_1215del (p.Leu405fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,992394,992394,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2776977:T:C,KCNQ1,VCV000983505,983505,NM_000218.3(KCNQ1):c.1686-9T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,983505,983505,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2588738:AC:A,KCNQ1,VCV000983047,983047,NM_000218.3(KCNQ1):c.1278del (p.Asp426fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,983047,983047,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2570701:AC:A,KCNQ1,VCV000983022,983022,NM_000218.3(KCNQ1):c.552del (p.Lys183_Tyr184insTer),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,983022,983022,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2699443:GCACTGAGGAGCCGCCGGGAGAGTGCCGCGCTGAGGAGCCCCCGGGGAGAGTGCCGCGCTGAGGAGCCCCCAGGAGAGTGCCGCGCTGAGGAGGCCCAGGGAGGACCGCGCGGAGGAGAACCATGCTGAGGAGCCCCCGGGGAGAACAGAACCGCGGCGAGAGGCCCCCGGAGAGAACCGCGCCGAAGAACCCCCGGGGACAACCGCGCCGAAGAACCCCCGGGGAGAACCGCGCCGAAAAGCCCCGGGTGCCCCGAGGAGAACGGCGCCGAGGAGTCCCCGGGGAGAACTGCGCCGAGGAGCCCCCAGAAGAGCGCCGCGCTGAGGAGCCCCGAGGAGAACCGCGCCGAGGGGCGCGCCGGGGAGAACCACGATGACTGACGCACCGAGGAGGACCGCGCTGAGGGGCGCACCGGGAGAATCGTGCTGAGGAGCCCCGGGGAGGACCACGCTGAGAGGCACCCCGGCAGAATCGCGCTGAGGGGCGCCCTGGCAGGATCTTGCTGAGGAGCTCCCTGGAGGTCCGTGCTGAGGCGACGCGGCGACCGTTCTGCCTGGAGACTGCGGCAGCGCTCCGACTGCCCCCGCCGCTGCCGACGTGGCGACCGCCCCCCACCTGCTGATTGGGCGGCAGCAGGGGAAGGCTTGCGGCGGGCTGCTGCACGGATTGGCTGGGTGCGGAAAGTGATGTGCCGTGTCCTGTCATTGGCCGAAAGAGTCTCGTTTTGATGCCACCCGGGCTCAGATTGGCCCAGCGGGTCCAGCGCCGCATGAGGCACTGGCTGGGTGTGAGGTGGCGCGAGCCGCCGCCCTCCCTGCCCCCACCCGTCGTCCCTGAGCACCACCGGGGGCCGGGGCCAGCGCCAGCCTCAGCGTTGGCATCGCCGGGGTGAGCTGGAGACACGGGCCAGTTCTCTGCGTGATGTGTTCACCACCCCGGGGTGACCGCGTGAGGACAGCGGCCGCACCCCGACACTGCTGTGGGCCCTCGGTGTGGAGGCCTGTGGGCGTCCAGGCCACGCCCGAGACCAGCCCCTCCGCCGGCGCCGCTGCAGCGACCCTCGAACCCGGGCAAGGTCTCCACCGCCGTGGCACCGGGTGCGGGAGGCGTTTTCCCCCCTCCCAGCGGGTCCATGCAGGGGATCGGGATGTTCTGAAGCCCCCACTGCTGTGCCTGGAACACCCGTGTCTGCCGCTCACCCCTGAGGACTTGGGACCTCAGGGGGTGAGTGGCAGGGGTGGCCGGGACATGCCAGGCCACCCACCTGGCAAAGGGCAGCGCCGAGGGCGCCCCGCGCCTGCCAGCGCCCGGCCGGGCCCGCCCTGCCCACCTCCCATCCCCCATCCGGGCGTGACACTTGACCGCGTCTGCCGGCCCCTCC:G,KCNQ1,VCV000977320,977320,NM_000218.3(KCNQ1):c.1514+37364_1514+38744del,Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,977320,977320,Silver-Russell syndrome 1,Silver-Russell syndrome 1,Silver-Russell syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2583544:CGGTAGGTGCCCCGTGGGTGCGTTTTCCCTGGCTCCTTGGACAGCTGGGGTCCTGGGGTGGCTGCACGCCCCTCCCTGTGAGCAGACCCACTTACGTTCAGAACCAAGAGGGTGCTTCCCTTCTAGAAGGTGCTATACTCCAGAGCCCCACCTGCCCTCCCTGGGGCCCTGGATGCAGACTTCCCGTTTGCAGTCCCCACTGGGGTCCTTGCAGGCAGTGTGGGAGGCAGCCTGGAGTGGCTGTGCATGGGCGCAGTGTGGGGCAGGCCTGCTCACTCAGCCCTGGGTGGGTGGGCAATGCTGCTACCACGCCCCATGGAGGCAGAATCTTGTGCCTGGAGAGGGCACTTCCACGCTGTGGCTGGGGGGGTTTTGTTCCATGTCCTTTCCAGAAACCACAGATTGTAAGGTGATGTGTCTAGTTCACAATGCCTGTATGTGGGTGTGTGTGTGTGTGTTATGTGCGTATGTGCATAATATGTGTTTGTGTTGTGTGTGTATAATTTTATGTTACCTGTATACTATGGGTATGTGTATATGTATCACATGGGTGTGTATGTACTGTATGTGTGCGTGCATACTGTGTATACATATTGTATGTGCATATGTTGTATTTAGTATGTGTGCTGTGTTGTGTGCACATGTATGCATTATACATGTATATCAGTATGTTTGCATATGTGTATTTATGTATCTGTGTCACAGGTATGTATCCTATACATCTATGTGCGTATATGTGTGTGCACATGACATGTAGACATGTGTTAGTATGTGCTTGTGTTAGTGTTTGTGTGTTAGTGTGGGTTAGTGTATGTTTTAGTGTATGTTAGTGTGTTTGTGTGTTAGTGTGTGGGTTTGTGTTTGTGTTTCTGTGTTAGTGTGTGTGTTAGTGTGCGTTAGTTTGTGTTTGTGTGTGTATGTTAGTGTATGTTAGTGTTAGTGTGTGTTAGTATGTGGGTTAGTGTGTGTGTTTGTGTGTTAGTGTGTGTGTTAGTATGTGTTTGTGTTAGTGTGTATTTGTGTGTGTTAGTGTTTGTGTGTGTTTGTGGGTTAGTGTGTGTTAGTGTGGGTTACTGTGTGTTAGTGTTTGTGTGTTAGTGTGTTTTTGTGTGTGTTAGTGTGTGGGTTAGTGTTTGTGTGTGTGTCAGTGTGTGTGTGTTAGTGTGCATATCTATTGTGTGTGTGTGTGCATCACACATGCACGTGCACCACGTGATCTCCTCTGTAGACACGGAGTTCCCTAGCTTCAGGGTGGGTCCTTTGCATCCCATCAACCGTCCTTGGGCGAGGCAGCAGCAGGGTCCTCCTCAGCTGAGGACTGCCTTCTCACTTGCGACCCCAATCCCAGTGCCCAGTATGACCCCTTCCTGGGCACATACAGATGGACCAGCCCACCTGGCCCCCAGAATGGTCCCTGGGAATGGGTTAGAGCGGCTGCAGCCCTGCCCCATGGGACTGGGCCCCTTGCTGGATAAGACCTGGGGTATAAGTTCTGCCCCCCATGCTGGCCCAGGACAGGCAGGCTGGGCCCGAGGTGGGACTTGGGGGGGCTTCCAGCACTGACCATACCTGGCCTTCCCACAACGGTGACCGGTAACCACGTCCTGAGGCTGCACCCAGCTGGCAGTGGCCTGTGTGGACGGGAGCCTCCTGTCCATTCCTTCCCAGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCTCACTCATTCAGGTGCGGTGCCTGCAAGGCCCTGGTCACTGTCATTTTGGTCACTGTTATTGTTGCATCCAGCCCTCACGGCCACCTGTCAGAACCATCATTGGCCCCTGCATCAGCTTGGCTGGCCTGTGGGGCATACTCTGCTTGTGGAAGCCTTGGCTGCTGTGGTGATGGGGTGAGCACGGGGCATTGGAGCCTGTCTTCCTCCAAAGCTGCTCCCATCAAGGGCCATGCCCTGTGGGCTGGAGAGGAGGCACGGCCGTGGCCATGCCAGGAGTGGACGTGGTTGGCTCTGAGGCTCCCTTGTGCTCCCATTCTCCCTCCCACTGCACAACAACCTGAGGGCTGAGTCTGGGAGTGGGGTGGCCAGGTGATTGTCCCCAAGGGAGGTAGGACCCAGCTGTGCAGTTGGTGCCTTCTGGAGGGCCTGGCATCCCTCAGGGCTCGGGAGGCCCTGGTGCCTGGAGGTGAGGACTGGCGATGGATGGCATGGGCCTCCCTCTGGGCTCACAAGGCCAGTGGGCTGGGAAAGGCAGAGCCCTGGAGCAACAGGGGCAGGAAGGTTCTGGAGGCAGGTGGGGAGGCAGGCAGTACCAAGCTCTGGGATGCTGGGCTCTGGCTCTGTCACTCCAGGCTCTCCAGGACCCACCAGAGAATGGGACTGCTCTGTTAACGTAAGCAAGGACTTGGCACAGGAGTCACTTGAGAATTGCGTCCCTGTGGGTCTCTCTTGTTGGCCACTGCAGGGCCAGGGCTGCCCTGAGGAACAGCCGCTGAGGTGCCCAGAGGGTGGGCGTTGCCGGGTTGAATGACAAGTGCCCACTGGGGATAGGGCCTCCGCCCAGTGCAGTGGCTGGGAGCACAGTGTCAGTTCCTCTGGGCACACTGGGCCTGATGTCCCCCAGGAAGGCCCAGGACCTGGGCAGCCCCCGCTGGCTGGCGTCCCCCCTGCAGTCCTCGTGAGCTCGCTGCCCCAGGCAAGGCCCAGGCTGTCAGGGGCCAGTCGCAGTCCTCCTGCACTCCTGGCTCAGCCATCGGGGGGGCTGTGTGCTCCCACCCTTAGCCTGGTTTTATGGCTTCACAGTTTCTCCTTCCTGGGAGACCATAAATCAGGCCCGTAAACCCGCCTTGGTCCCAGCATGAGCATGCTGGCCGCCCACGCCTGGCAGGGGACCACATTGGATTCCTGGTCCCACTCCCTGGGAACCACAGGTCCTTTGAAAGGGGTTCCCTCGGAAGCTGCACACACTGTGGGAGGACTGGAGTAGGGGCCCCAGGTGGCAGGTGTGCACAGGAGCAGGGCAGGGGTCATGGGGTTTGCCAGGGTTGGGGGACCACGTGGAGTGCTCAGCCTGTGTGTGTAACACTCGGGCCTTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCA:C,KCNQ1,VCV000977170,977170,NM_000218.3(KCNQ1):c.1032+1_1129-1del,Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,977170,977170,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2587646:GC:G,KCNQ1,VCV000966649,966649,NM_000218.3(KCNQ1):c.1207del (p.His403fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,966649,966649,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2583477:A:C,KCNQ1,VCV000960695,960695,NM_000218.3(KCNQ1):c.964A>C (p.Thr322Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,960695,960695,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2777033:G:A,KCNQ1,VCV000956049,956049,NM_000218.3(KCNQ1):c.1732+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,956049,956049,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2583547:T:C,KCNQ1,VCV000939724,939724,NM_000218.3(KCNQ1):c.1032+2T>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,939724,939724,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2588718:GAAAA:G,KCNQ1,VCV000930315,930315,NM_000218.3(KCNQ1):c.1262_1265del (p.Lys421fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,930315,930315,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2662006:T:TGAGAACCAACAGCTTCGCC,KCNQ1,VCV000926196,926196,NM_000218.3(KCNQ1):c.1443_1461dup (p.Asp488fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,926196,926196,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2588790:CA:C,KCNQ1,VCV000925351,925351,NM_000218.3(KCNQ1):c.1330del (p.Thr444fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,925351,925351,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,unanchored,0.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2588815:CG:C,KCNQ1,VCV000922607,922607,NM_000218.3(KCNQ1):c.1356del (p.Leu453fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,922607,922607,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2585222:GCTCGGGGTTTG:CA,KCNQ1,VCV000919956,919956,NM_000218.3(KCNQ1):c.1043_1054delinsCA (p.Gly348fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,919956,919956,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572105:G:C,KCNQ1,VCV000869436,869436,NM_000218.3(KCNQ1):c.776G>C (p.Arg259Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,869436,869436,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2585288:C:A,KCNQ1,VCV000869435,869435,NM_000218.3(KCNQ1):c.1109C>A (p.Ala370Glu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,869435,869435,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2570626:AG:A,KCNQ1,VCV000869434,869434,NM_000218.2(KCNQ1):c.478_478del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,869434,869434,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2768869:ATTAAGGTCAT:A,KCNQ1,VCV000869433,869433,NM_000218.3(KCNQ1):c.1542_1551del (p.Lys515fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,869433,869433,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572874:TCCTGGG:T,KCNQ1,VCV000861314,861314,NM_000218.3(KCNQ1):c.813_818del (p.Gly272_Leu273del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,861314,861314,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572072:G:A,KCNQ1,VCV000855976,855976,NM_000218.3(KCNQ1):c.743G>A (p.Trp248Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,855976,855976,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2587671:CA:C,KCNQ1,VCV000844409,844409,NM_000218.3(KCNQ1):c.1233del (p.Lys411fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,844409,844409,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572107:C:T,KCNQ1,VCV000842276,842276,NM_000218.3(KCNQ1):c.778C>T (p.Gln260Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,842276,842276,Long QT syndrome|KCNQ1-related disorder,Long QT syndrome|KCNQ1-related disorder,Long QT syndrome|KCNQ1-related disorder,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2570712:TGG:T,KCNQ1,VCV000817323,817323,NM_000218.3(KCNQ1):c.566_567del (p.Gly189fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,817323,817323,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2570662:AC:A,KCNQ1,VCV000817016,817016,NM_000218.3(KCNQ1):c.513del (p.Glu170_Tyr171insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,817016,817016,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2587693:G:A,KCNQ1,VCV000812675,812675,NM_000218.3(KCNQ1):c.1251+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,812675,812675,Long QT syndrome 1|Long QT syndrome,Long QT syndrome 1|Long QT syndrome,Long QT syndrome 1|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445471:T:A,KCNQ1,VCV000684802,684802,NM_000218.3(KCNQ1):c.373T>A (p.Tyr125Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,684802,684802,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2528008:T:C,KCNQ1,VCV000684787,684787,NM_000218.3(KCNQ1):c.467T>C (p.Leu156Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,684787,684787,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2776056:T:G,KCNQ1,VCV000667007,667007,NM_000218.3(KCNQ1):c.1685+2T>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,667007,667007,"Congenital long QT syndrome|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1","Congenital long QT syndrome|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1","Congenital long QT syndrome|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1",variation_id,,,,representation_repairable,0.45,LQTS|SQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True
+11:2572055:C:A,KCNQ1,VCV000665471,665471,NM_000218.3(KCNQ1):c.726C>A (p.Asp242Glu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,665471,665471,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2583486:G:C,KCNQ1,VCV000660595,660595,NM_000218.3(KCNQ1):c.973G>C (p.Gly325Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,660595,660595,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2571404:G:A,KCNQ1,VCV000651458,651458,NM_000218.3(KCNQ1):c.683+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,651458,651458,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2583550:G:T,KCNQ1,VCV000641597,641597,NM_000218.3(KCNQ1):c.1032+5G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,641597,641597,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2585305:C:T,KCNQ1,VCV000620198,620198,NM_000218.3(KCNQ1):c.1126C>T (p.Gln376Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,620198,620198,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572846:G:T,KCNQ1,VCV000620103,620103,NM_000218.3(KCNQ1):c.781G>T (p.Glu261Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,620103,620103,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2768851:GA:G,KCNQ1,VCV000587644,587644,NM_000218.3(KCNQ1):c.1524del (p.Glu508fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,587644,587644,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2583433:A:G,KCNQ1,VCV000582668,582668,NM_000218.3(KCNQ1):c.922-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,582668,582668,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2583442:TCAC:T,KCNQ1,VCV000581345,581345,NM_000218.3(KCNQ1):c.932CCA[1] (p.Thr312del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,581345,581345,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2587579:A:T,KCNQ1,VCV000581004,581004,NM_000218.3(KCNQ1):c.1138A>T (p.Arg380Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,581004,581004,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2768841:CAG:C,KCNQ1,VCV000576205,576205,NM_000218.3(KCNQ1):c.1515-2_1515-1del,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,576205,576205,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2571324:G:C,KCNQ1,VCV000573523,573523,NM_000218.3(KCNQ1):c.605-1G>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,573523,573523,"Long QT syndrome|Short QT syndrome type 2;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Long QT syndrome 1","Long QT syndrome|Short QT syndrome type 2;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Long QT syndrome 1","Long QT syndrome|Short QT syndrome type 2;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Long QT syndrome 1",variation_id,,,,locus_or_regional_context,0.25,LQTS|SQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True
+11:2572061:GGGAGGCACCT:G,KCNQ1,VCV000570590,570590,NM_000218.3(KCNQ1):c.739_748del (p.Thr247fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,570590,570590,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2777002:G:C,KCNQ1,VCV000570319,570319,NM_000218.3(KCNQ1):c.1702G>C (p.Gly568Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,570319,570319,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2583545:G:T,KCNQ1,VCV000560649,560649,NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,560649,560649,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572850:T:C,KCNQ1,VCV000560359,560359,NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,560359,560359,Prolonged QT interval|Long QT syndrome 1|Long QT syndrome|Cardiovascular phenotype,Prolonged QT interval|Long QT syndrome 1|Long QT syndrome|Cardiovascular phenotype,Prolonged QT interval|Long QT syndrome 1|Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2588717:AG:A,KCNQ1,VCV000526930,526930,NM_000218.3(KCNQ1):c.1257del (p.Lys422fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,526930,526930,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445192:A:T,KCNQ1,VCV000523769,523769,NM_000218.3(KCNQ1):c.94A>T (p.Lys32Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,523769,523769,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2583447:A:T,KCNQ1,VCV000522585,522585,NM_000218.3(KCNQ1):c.934A>T (p.Thr312Ser),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,522585,522585,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572059:C:T,KCNQ1,VCV000519369,519369,NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519369,519369,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True
+11:2570659:AG:A,KCNQ1,VCV000519357,519357,NM_000218.3(KCNQ1):c.510del (p.Glu170fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519357,519357,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2777034:TG:T,KCNQ1,VCV000517664,517664,NM_000218.3(KCNQ1):c.1732+5del,Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,517664,517664,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2661990:AGCAT:A,KCNQ1,VCV000496690,496690,NM_000218.3(KCNQ1):c.1426_1429del (p.Met476fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,496690,496690,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445473:C:A,KCNQ1,VCV000489011,489011,NM_000218.3(KCNQ1):c.375C>A (p.Tyr125Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,489011,489011,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572899:C:G,KCNQ1,VCV000456869,456869,NM_000218.3(KCNQ1):c.834C>G (p.Tyr278Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456869,456869,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2583456:T:C,KCNQ1,VCV000449302,449302,NM_000218.3(KCNQ1):c.943T>C (p.Tyr315His),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,449302,449302,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2571373:A:AG,KCNQ1,VCV000449283,449283,NM_000218.3(KCNQ1):c.657dup (p.Gln220fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,449283,449283,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2775977:C:CGATGT,KCNQ1,VCV000448975,448975,NM_000218.3(KCNQ1):c.1610_1614dup (p.Arg539fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,448975,448975,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572060:AGG:A,KCNQ1,VCV000438610,438610,NM_000218.3(KCNQ1):c.733_734del (p.Gly245fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,438610,438610,Jervell and Lange-Nielsen syndrome 1|Abnormality of the cardiovascular system,Jervell and Lange-Nielsen syndrome 1|Abnormality of the cardiovascular system,Jervell and Lange-Nielsen syndrome 1|Abnormality of the cardiovascular system,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2570706:G:T,KCNQ1,VCV000432149,432149,NM_000218.3(KCNQ1):c.556G>T (p.Gly186Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,432149,432149,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2588785:CA:C,KCNQ1,VCV000431370,431370,NM_000218.3(KCNQ1):c.1325del (p.His442fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,431370,431370,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2768860:CG:C,KCNQ1,VCV000430941,430941,NM_000218.3(KCNQ1):c.1534del (p.Ala512fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,430941,430941,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2528004:ACT:A,KCNQ1,VCV000421737,421737,NM_000218.3(KCNQ1):c.468_469del (p.Phe157fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,421737,421737,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445231:C:CCGGCGGG,KCNQ1,VCV000420658,420658,NM_000218.3(KCNQ1):c.139_145dup (p.Ala49fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,420658,420658,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2571340:TG:T,KCNQ1,VCV000420529,420529,NM_000218.3(KCNQ1):c.622del (p.Ala208fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,420529,420529,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2445478:T:TCG,KCNQ1,VCV000419579,419579,NM_000218.3(KCNQ1):c.382_383dup (p.Val129fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,419579,419579,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2587616:G:A,KCNQ1,VCV000405268,405268,NM_000218.3(KCNQ1):c.1175G>A (p.Trp392Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405268,405268,Long QT syndrome||Jervell and Lange-Nielsen syndrome,Long QT syndrome||Jervell and Lange-Nielsen syndrome,Long QT syndrome||Jervell and Lange-Nielsen syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2778025:AG:A,KCNQ1,VCV000405264,405264,NM_000218.3(KCNQ1):c.1783del (p.Arg594_Val595insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405264,405264,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572912:G:C,KCNQ1,VCV000405263,405263,NM_000218.3(KCNQ1):c.847G>C (p.Ala283Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405263,405263,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572068:ACCTGGAGGCT:A,KCNQ1,VCV000405262,405262,NM_000218.3(KCNQ1):c.745_754del (p.Arg249fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,405262,405262,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2585225:C:A,KCNQ1,VCV000405261,405261,NM_000218.3(KCNQ1):c.1046C>A (p.Ser349Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,405261,405261,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572050:G:T,KCNQ1,VCV000405255,405255,NM_000218.3(KCNQ1):c.721G>T (p.Val241Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,405255,405255,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572883:T:C,KCNQ1,VCV000405254,405254,NM_000218.3(KCNQ1):c.818T>C (p.Leu273Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405254,405254,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572846:GA:TT,KCNQ1,VCV000405253,405253,NM_000218.3(KCNQ1):c.781_782delinsTT (p.Glu261Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,MNV_or_substitution,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405253,405253,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+11:2572908:C:A,KCNQ1,VCV000379504,379504,NM_000218.3(KCNQ1):c.843C>A (p.Tyr281Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,379504,379504,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True
+11:2583434:G:A,KCNQ1,VCV000372568,372568,NM_000218.3(KCNQ1):c.922-1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,372568,372568,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958401:CCGGGGCGCCCGCGCCGCCCGCG:C,KCNH2,VCV004804554,4804554,NM_000238.4(KCNH2):c.552_573del (p.Ala185fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4804554,4804554,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150957304:TCA:T,KCNH2,VCV004763986,4763986,NM_000238.4(KCNH2):c.1113_1114del (p.Lys373fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4763986,4763986,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974776:TG:T,KCNH2,VCV004758983,4758983,NM_000238.4(KCNH2):c.241del (p.Gln81fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4758983,4758983,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952789:CA:C,KCNH2,VCV004758579,4758579,NM_000238.4(KCNH2):c.1192del (p.Trp398fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4758579,4758579,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947810:C:CCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCT,KCNH2,VCV004757905,4757905,NM_000238.4(KCNH2):c.2699_2760dup (p.Gly921fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4757905,4757905,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974714:CT:C,KCNH2,VCV004733133,4733133,NM_000238.4(KCNH2):c.303del (p.Asp102fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4733133,4733133,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948451:C:CGT,KCNH2,VCV004728357,4728357,NM_000238.4(KCNH2):c.2683_2684dup (p.Asp896fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4728357,4728357,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974927:TG:T,KCNH2,VCV004727073,4727073,NM_000238.4(KCNH2):c.90del (p.Ile31fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4727073,4727073,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950996:GGGGATCT:G,KCNH2,VCV004726900,4726900,NM_000238.4(KCNH2):c.2063_2069del (p.Gln688fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4726900,4726900,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951619:G:A,KCNH2,VCV004724072,4724072,NM_000238.4(KCNH2):c.1774C>T (p.Gln592Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4724072,4724072,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947659:TC:T,KCNH2,VCV004722731,4722731,NM_000238.4(KCNH2):c.2911del (p.Glu971fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4722731,4722731,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948935:AG:A,KCNH2,VCV004721201,4721201,NM_000238.4(KCNH2):c.2512del (p.Leu838fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4721201,4721201,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958060:G:GGT,KCNH2,VCV004720344,4720344,NM_000238.4(KCNH2):c.913_914dup (p.Gly306fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4720344,4720344,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950985:C:CT,KCNH2,VCV004720342,4720342,NM_000238.4(KCNH2):c.2080_2081insA (p.Arg694fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4720342,4720342,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948873:TG:T,KCNH2,VCV004719590,4719590,NM_000238.4(KCNH2):c.2574del (p.Thr859fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4719590,4719590,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951653:GT:G,KCNH2,VCV004715748,4715748,NM_000238.4(KCNH2):c.1739del (p.Asp580fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4715748,4715748,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950398:CACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCA:C,KCNH2,VCV004715444,4715444,NM_000238.4(KCNH2):c.2146-50_2167del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4715444,4715444,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947816:T:TC,KCNH2,VCV004714508,4714508,NM_000238.4(KCNH2):c.2754_2755insG (p.Ser919fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4714508,4714508,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947516:T:C,KCNH2,VCV004710895,4710895,NM_000238.4(KCNH2):c.2966-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4710895,4710895,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947452:G:A,KCNH2,VCV004710749,4710749,NM_000238.4(KCNH2):c.3028C>T (p.Gln1010Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4710749,4710749,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951022:C:A,KCNH2,VCV004709557,4709557,NM_000238.4(KCNH2):c.2044G>T (p.Glu682Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4709557,4709557,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950393:G:A,KCNH2,VCV004709556,4709556,NM_000238.4(KCNH2):c.2173C>T (p.Gln725Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4709556,4709556,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974868:CTCGCAGAAGCCGTCG:C,KCNH2,VCV004686179,4686179,NM_000238.4(KCNH2):c.135_149del (p.Asn45_Glu50delinsLys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4686179,4686179,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974766:C:CTGCGCGATCTGCGCGGCAGCGCGGCGCTGCG,KCNH2,VCV004681926,4681926,NM_000238.4(KCNH2):c.221_251dup (p.Gln84fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4681926,4681926,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947386:GACCC:CCG,KCNH2,VCV004614356,4614356,NM_000238.4(KCNH2):c.3090_3094delinsCGG (p.Arg1032fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4614356,4614356,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958125:ACGAGGCGCGGCGCACG:A,KCNH2,VCV004614351,4614351,NM_000238.4(KCNH2):c.834_849del (p.Val279fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4614351,4614351,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150977911:CAT:C,KCNH2,VCV004614346,4614346,NM_000238.4(KCNH2):c.1_2del (p.Met1fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4614346,4614346,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950421:CTGGGGGCAGGG:C,KCNH2,VCV004614344,4614344,NM_000238.4(KCNH2):c.2146-12_2146-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4614344,4614344,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958115:T:TCGTCGGC,KCNH2,VCV004529668,4529668,NM_000238.4(KCNH2):c.853_859dup (p.Asp287fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4529668,4529668,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947398:A:AGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATC,KCNH2,VCV004281328,4281328,NM_000238.4(KCNH2):c.3041_3081dup (p.Ser1028fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4281328,4281328,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951686:G:T,KCNH2,VCV004280330,4280330,NM_000238.4(KCNH2):c.1707C>A (p.Tyr569Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4280330,4280330,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952518:G:GCGGC,KCNH2,VCV004090314,4090314,NM_000238.4(KCNH2):c.1460_1463dup (p.Ile489fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4090314,4090314,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951522:C:A,KCNH2,VCV004074744,4074744,NM_000238.4(KCNH2):c.1871G>T (p.Ser624Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4074744,4074744,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974883:G:GGAC,KCNH2,VCV004074721,4074721,NM_000238.4(KCNH2):c.134_135insGTC (p.Asn45delinsLysSer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4074721,4074721,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150949002:CA:C,KCNH2,VCV004071954,4071954,NM_000238.4(KCNH2):c.2445del (p.Gly816fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4071954,4071954,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948455:CGCCT:C,KCNH2,VCV003911914,3911914,NM_000238.4(KCNH2):c.2677_2680del (p.Arg893fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3911914,3911914,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950971:C:A,KCNH2,VCV003911046,3911046,NM_000238.4(KCNH2):c.2095G>T (p.Glu699Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3911046,3911046,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951627:A:G,KCNH2,VCV003900638,3900638,NM_000238.4(KCNH2):c.1766T>C (p.Leu589Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3900638,3900638,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950199:G:C,KCNH2,VCV003895127,3895127,NM_000238.4(KCNH2):c.2367C>G (p.Ile789Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3895127,3895127,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948472:CTTGCGCTTGCG:C,KCNH2,VCV003895051,3895051,NM_000238.4(KCNH2):c.2653_2663del (p.Arg885fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3895051,3895051,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150977847:C:T,KCNH2,VCV003895040,3895040,NM_000238.4(KCNH2):c.67G>A (p.Glu23Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3895040,3895040,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952746:C:T,KCNH2,VCV003894984,3894984,NM_000238.4(KCNH2):c.1236G>A (p.Trp412Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3894984,3894984,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948465:AG:A,KCNH2,VCV003894466,3894466,NM_000238.4(KCNH2):c.2670del (p.Phe891fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894466,3894466,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947792:ACGGCCCCCCCGGC:A,KCNH2,VCV003893973,3893973,NM_000238.4(KCNH2):c.2766_2778del (p.Pro923fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3893973,3893973,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958239:C:CGG,KCNH2,VCV003862757,3862757,NM_000238.4(KCNH2):c.734_735dup (p.Gly246fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3862757,3862757,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947802:C:CG,KCNH2,VCV003775096,3775096,NM_000238.4(KCNH2):c.2768dup (p.Pro926fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3775096,3775096,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947833:GC:G,KCNH2,VCV003773804,3773804,NM_000238.4(KCNH2):c.2737del (p.Ala913fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3773804,3773804,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947606:CT:C,KCNH2,VCV003764662,3764662,NM_000238.4(KCNH2):c.2964del (p.Gly989fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3764662,3764662,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150977853:T:TG,KCNH2,VCV003728256,3728256,NM_000238.4(KCNH2):c.60dup (p.Lys21fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3728256,3728256,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974851:CG:C,KCNH2,VCV003724054,3724054,NM_000238.4(KCNH2):c.166del (p.Arg56fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3724054,3724054,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948466:G:GGACAACTT,KCNH2,VCV003721525,3721525,NM_000238.4(KCNH2):c.2662_2669dup (p.Phe891fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3721525,3721525,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974776:T:TGCGCGGCA,KCNH2,VCV003720793,3720793,NM_000238.4(KCNH2):c.234_241dup (p.Gln81fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3720793,3720793,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951583:C:A,KCNH2,VCV003720791,3720791,NM_000238.4(KCNH2):c.1810G>T (p.Gly604Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3720791,3720791,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950211:GC:G,KCNH2,VCV003720787,3720787,NM_000238.4(KCNH2):c.2354del (p.Gly785fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3720787,3720787,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947804:GCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGC:G,KCNH2,VCV003712259,3712259,NM_000238.4(KCNH2):c.2732_2766del (p.Gly911fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3712259,3712259,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952480:T:G,KCNH2,VCV003657287,3657287,NM_000238.4(KCNH2):c.1502A>C (p.Asp501Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3657287,3657287,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974794:TGC:T,KCNH2,VCV003655448,3655448,NM_000238.4(KCNH2):c.222_223del (p.Gln75fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3655448,3655448,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951069:AG:A,KCNH2,VCV003651645,3651645,NM_000238.4(KCNH2):c.1996del (p.Leu666fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3651645,3651645,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958119:CG:C,KCNH2,VCV003651113,3651113,NM_000238.4(KCNH2):c.855del (p.Asp286fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3651113,3651113,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950175:GGCCACGACGACGTC:G,KCNH2,VCV003602222,3602222,NM_000238.4(KCNH2):c.2377_2390del (p.Asp793fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3602222,3602222,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974842:A:G,KCNH2,VCV003544416,3544416,NM_000238.4(KCNH2):c.176T>C (p.Val59Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3544416,3544416,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951076:G:A,KCNH2,VCV003386898,3386898,NM_000238.4(KCNH2):c.1990C>T (p.Gln664Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3386898,3386898,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974852:G:A,KCNH2,VCV003383250,3383250,NM_000238.4(KCNH2):c.166C>T (p.Arg56Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3383250,3383250,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951102:A:T,KCNH2,VCV003382540,3382540,NM_000238.4(KCNH2):c.1964T>A (p.Ile655Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3382540,3382540,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951462:A:AC,KCNH2,VCV003376960,3376960,NM_000238.4(KCNH2):c.1930dup (p.Val644fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3376960,3376960,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947807:GGCCCCGGCTACTCGGCCCT:G,KCNH2,VCV003376939,3376939,NM_000238.4(KCNH2):c.2745_2763del (p.Pro917fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3376939,3376939,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951801:C:G,KCNH2,VCV003370336,3370336,NM_000238.4(KCNH2):c.1592G>C (p.Arg531Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3370336,3370336,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974774:T:TCTGCGCGG,KCNH2,VCV003341931,3341931,NM_000238.4(KCNH2):c.236_243dup (p.Ile82fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3341931,3341931,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952717:G:T,KCNH2,VCV003338328,3338328,NM_000238.4(KCNH2):c.1265C>A (p.Ala422Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3338328,3338328,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947400:AG:A,KCNH2,VCV003255227,3255227,NM_000238.4(KCNH2):c.3079del (p.Leu1027fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3255227,3255227,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951576:GAGGGGCCGCCCAG:ATACATACTT,KCNH2,VCV003254651,3254651,NM_000238.4(KCNH2):c.1804_1817delinsAAGTATGTAT (p.Leu602fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3254651,3254651,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958109:TCGATGTCGTCGGCCGA:T,KCNH2,VCV003254536,3254536,NM_000238.4(KCNH2):c.850_865del (p.Ser284fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3254536,3254536,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950944:TGTAGG:T,KCNH2,VCV003252026,3252026,NM_000238.4(KCNH2):c.2117_2121del (p.Ser706fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3252026,3252026,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150977842:G:GGC,KCNH2,VCV003236854,3236854,NM_000238.4(KCNH2):c.71_72insGC (p.Gln25fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3236854,3236854,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947367:ACGTCGCCC:A,KCNH2,VCV003230731,3230731,NM_000238.4(KCNH2):c.3105_3112del (p.Asp1037fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3230731,3230731,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974721:G:C,KCNH2,VCV003230730,3230730,NM_000238.4(KCNH2):c.297C>G (p.Tyr99Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3230730,3230730,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950843:TGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGG:T,KCNH2,VCV003230725,3230725,NM_000238.4(KCNH2):c.2013_2145+77del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3230725,3230725,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952852:A:AC,KCNH2,VCV003076042,3076042,NC_000007.14:g.150952854dup,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3076042,3076042,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952817:TG:T,KCNH2,VCV003076025,3076025,NM_000238.4(KCNH2):c.1164del (p.Glu387_Tyr388insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3076025,3076025,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947857:A:ACCTC,KCNH2,VCV003075307,3075307,NM_000238.4(KCNH2):c.2710_2713dup (p.Val905fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3075307,3075307,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950920:CCG:C,KCNH2,VCV003074111,3074111,NM_000238.4(KCNH2):c.2144_2145del (p.Ala715fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3074111,3074111,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951479:CT:C,KCNH2,VCV003068475,3068475,NM_000238.4(KCNH2):c.1913del (p.Lys638fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3068475,3068475,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951530:G:T,KCNH2,VCV003066169,3066169,NM_000238.4(KCNH2):c.1863C>A (p.Ser621Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3066169,3066169,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951730:A:G,KCNH2,VCV003064233,3064233,NM_000238.4(KCNH2):c.1663T>C (p.Cys555Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3064233,3064233,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958303:CCCTG:C,KCNH2,VCV002918473,2918473,NM_000238.4(KCNH2):c.668_671del (p.Ala223fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2918473,2918473,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150946999:G:A,KCNH2,VCV002906537,2906537,NM_000238.4(KCNH2):c.3208C>T (p.Gln1070Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2906537,2906537,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974750:C:A,KCNH2,VCV002880265,2880265,NM_000238.4(KCNH2):c.268G>T (p.Glu90Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2880265,2880265,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958139:AC:A,KCNH2,VCV002858211,2858211,NM_000238.4(KCNH2):c.835del (p.Val279fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2858211,2858211,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150946925:C:CA,KCNH2,VCV002832789,2832789,NM_000238.4(KCNH2):c.3281dup (p.Leu1095fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2832789,2832789,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948906:ACTCAGGGT:A,KCNH2,VCV002821739,2821739,NM_000238.4(KCNH2):c.2534_2541del (p.Tyr845fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2821739,2821739,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952722:G:C,KCNH2,VCV002814358,2814358,NM_000238.4(KCNH2):c.1260C>G (p.Tyr420Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2814358,2814358,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150957440:AG:A,KCNH2,VCV002813131,2813131,NM_000238.4(KCNH2):c.978del (p.Tyr327fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2813131,2813131,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958217:G:GC,KCNH2,VCV002790199,2790199,NM_000238.4(KCNH2):c.757dup (p.Ala253fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2790199,2790199,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948995:G:C,KCNH2,VCV002773436,2773436,NM_000238.4(KCNH2):c.2453C>G (p.Ser818Trp),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2773436,2773436,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True
+7:150947795:GCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCC:G,KCNH2,VCV002773424,2773424,NM_000238.4(KCNH2):c.2742_2775del (p.Ala915fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2773424,2773424,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952632:C:CTGGCAGGCGTAGCCACACTCGG,KCNH2,VCV002772506,2772506,NM_000238.4(KCNH2):c.1328_1349dup (p.Gln450fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2772506,2772506,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950146:GTGCCCGCCCCCCACCCCATACC:G,KCNH2,VCV002770983,2770983,NM_000238.4(KCNH2):c.2398_2398+21del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2770983,2770983,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947384:C:CCG,KCNH2,VCV002763043,2763043,NM_000238.4(KCNH2):c.3094_3095dup (p.Arg1033fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2763043,2763043,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952800:GC:G,KCNH2,VCV002760013,2760013,NM_000238.4(KCNH2):c.1181del (p.Arg394fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2760013,2760013,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951768:TA:T,KCNH2,VCV002758800,2758800,NM_000238.4(KCNH2):c.1624del (p.Tyr542fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2758800,2758800,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150946808:AGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCT:A,KCNH2,VCV002758297,2758297,NM_000238.4(KCNH2):c.3194_3330+68del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2758297,2758297,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958207:G:GA,KCNH2,VCV002754986,2754986,NM_000238.4(KCNH2):c.767dup (p.Asn257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2754986,2754986,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958315:GT:G,KCNH2,VCV002753718,2753718,NM_000238.4(KCNH2):c.659del (p.Asn220fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2753718,2753718,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948483:G:GTTGCC,KCNH2,VCV002748964,2748964,NM_000238.4(KCNH2):c.2648_2652dup (p.Arg885fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2748964,2748964,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951767:G:T,KCNH2,VCV002748626,2748626,NM_000238.4(KCNH2):c.1626C>A (p.Tyr542Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2748626,2748626,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974846:C:A,KCNH2,VCV002746100,2746100,NM_000238.4(KCNH2):c.172G>T (p.Glu58Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2746100,2746100,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947378:G:GGGCC,KCNH2,VCV002745936,2745936,NM_000238.4(KCNH2):c.3098_3101dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2745936,2745936,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947055:C:G,KCNH2,VCV002744101,2744101,NM_000238.4(KCNH2):c.3153-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2744101,2744101,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951515:GC:G,KCNH2,VCV002735100,2735100,NM_000238.4(KCNH2):c.1877del (p.Gly626fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2735100,2735100,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951109:CA:C,KCNH2,VCV002735098,2735098,NM_000238.4(KCNH2):c.1956del (p.Met651_Tyr652insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2735098,2735098,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150949051:T:C,KCNH2,VCV002735096,2735096,NM_000238.4(KCNH2):c.2399-2A>G,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2735096,2735096,Long QT syndrome||Long QT syndrome 2,Long QT syndrome||Long QT syndrome 2,Long QT syndrome||Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958121:GCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTT:ACGCCTCGGGCTC,KCNH2,VCV002727880,2727880,NM_000238.4(KCNH2):c.769_854delinsGAGCCCGAGGCGT (p.Asn257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2727880,2727880,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950402:CAG:C,KCNH2,VCV002725070,2725070,NM_000238.4(KCNH2):c.2162_2163del (p.Pro721fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2725070,2725070,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950409:G:GC,KCNH2,VCV002698764,2698764,NM_000238.4(KCNH2):c.2156dup (p.Phe720fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2698764,2698764,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947804:GCCGGCCCCGGCTACTCGGC:G,KCNH2,VCV002694065,2694065,NM_000238.4(KCNH2):c.2748_2766del (p.Pro917fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2694065,2694065,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150946949:A:AC,KCNH2,VCV002687478,2687478,NM_000238.4(KCNH2):c.3257_3258insG (p.Gly1087fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2687478,2687478,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951639:C:T,KCNH2,VCV002665002,2665002,NM_000238.4(KCNH2):c.1754G>A (p.Trp585Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2665002,2665002,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947853:CG:C,KCNH2,VCV002664629,2664629,NM_000238.4(KCNH2):c.2717del (p.Ser906fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2664629,2664629,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947683:G:GGCCT,KCNH2,VCV002637626,2637626,NM_000238.4(KCNH2):c.2884_2887dup (p.Pro963fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2637626,2637626,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150957325:TC:T,KCNH2,VCV002579645,2579645,NM_000238.4(KCNH2):c.1093del (p.Glu365fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2579645,2579645,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948983:A:G,KCNH2,VCV002575020,2575020,NM_000238.4(KCNH2):c.2465T>C (p.Val822Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575020,2575020,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951699:G:C,KCNH2,VCV002574032,2574032,NM_000238.4(KCNH2):c.1694C>G (p.Ala565Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2574032,2574032,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947360:GCTCTCCACGTCGCCCCG:CCGCCGACCC,KCNH2,VCV002571299,2571299,NM_000238.4(KCNH2):c.3103_3120delinsGGGTCGGCGG (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2571299,2571299,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947643:GT:G,KCNH2,VCV002567296,2567296,NM_000238.4(KCNH2):c.2927del (p.Asp976fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2567296,2567296,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951447:C:G,KCNH2,VCV002452993,2452993,NM_000238.4(KCNH2):c.1945+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2452993,2452993,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150957427:CT:C,KCNH2,VCV002442075,2442075,NM_000238.4(KCNH2):c.991del (p.Ser331fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2442075,2442075,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150946928:CGG:C,KCNH2,VCV002429379,2429379,NM_000238.4(KCNH2):c.3277_3278del (p.Pro1093fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2429379,2429379,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947713:A:AG,KCNH2,VCV002227986,2227986,NM_000238.4(KCNH2):c.2857dup (p.Leu953fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2227986,2227986,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951459:A:C,KCNH2,VCV002136626,2136626,NM_000238.4(KCNH2):c.1934T>G (p.Met645Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2136626,2136626,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947034:G:GC,KCNH2,VCV002136623,2136623,NM_000238.4(KCNH2):c.3172dup (p.Ala1058fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2136623,2136623,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952634:GGCAGGCGTAGCCACACTCGGTA:G,KCNH2,VCV002133333,2133333,NM_000238.4(KCNH2):c.1326_1347del (p.Thr443fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2133333,2133333,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150945474:G:GC,KCNH2,VCV002130516,2130516,NM_000238.4(KCNH2):c.3370dup (p.Ala1124fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2130516,2130516,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948544:C:G,KCNH2,VCV002128179,2128179,NM_000238.4(KCNH2):c.2593-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2128179,2128179,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951045:TGGTA:T,KCNH2,VCV002125899,2125899,NM_000238.4(KCNH2):c.2017_2020del (p.Tyr673fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2125899,2125899,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951488:G:T,KCNH2,VCV002121024,2121024,NM_000238.4(KCNH2):c.1905C>A (p.Asn635Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2121024,2121024,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951710:CGCGATGA:C,KCNH2,VCV002120904,2120904,NM_000238.4(KCNH2):c.1676_1682del (p.Leu559fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2120904,2120904,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951812:CG:C,KCNH2,VCV002095758,2095758,NM_000238.4(KCNH2):c.1580del (p.Ala527fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2095758,2095758,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951469:TGGA:T,KCNH2,VCV002088283,2088283,NM_000238.4(KCNH2):c.1921_1923del (p.Ser641del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2088283,2088283,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947872:T:TC,KCNH2,VCV002085464,2085464,NM_000238.4(KCNH2):c.2698dup (p.Glu900fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2085464,2085464,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950260:A:AGT,KCNH2,VCV002078663,2078663,NM_000238.4(KCNH2):c.2304_2305dup (p.Leu769fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2078663,2078663,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950406:G:GA,KCNH2,VCV002071298,2071298,NM_000238.4(KCNH2):c.2159dup (p.Pro721_Glu722insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2071298,2071298,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950961:TG:T,KCNH2,VCV002062924,2062924,NM_000238.4(KCNH2):c.2104del (p.Gln702fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2062924,2062924,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951769:A:G,KCNH2,VCV002055725,2055725,NM_000238.4(KCNH2):c.1624T>C (p.Tyr542His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2055725,2055725,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951690:C:T,KCNH2,VCV002042701,2042701,NM_000238.4(KCNH2):c.1703G>A (p.Trp568Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2042701,2042701,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150946955:C:CGGGGTGG,KCNH2,VCV002033107,2033107,NM_000238.4(KCNH2):c.3245_3251dup (p.Gly1085fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2033107,2033107,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951345:AGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCAT:A,KCNH2,VCV002032030,2032030,NM_000238.4(KCNH2):c.1720_1945+102del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2032030,2032030,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958414:GCCGCCCGCGCCGC:G,KCNH2,VCV002023450,2023450,NM_000238.4(KCNH2):c.548_560del (p.Gly183fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2023450,2023450,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951627:A:AGGTT,KCNH2,VCV002016168,2016168,NM_000238.4(KCNH2):c.1762_1765dup (p.Leu589fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2016168,2016168,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947376:C:CGGGG,KCNH2,VCV002012895,2012895,NM_000238.4(KCNH2):c.3100_3103dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2012895,2012895,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947718:GCTGGAGCTGCGGC:G,KCNH2,VCV002002742,2002742,NM_000238.4(KCNH2):c.2840_2852del (p.Gly947fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2002742,2002742,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958414:GCCGCCCGC:G,KCNH2,VCV001994302,1994302,NM_000238.4(KCNH2):c.553_560del (p.Ala185fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1994302,1994302,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950275:G:GGT,KCNH2,VCV001994292,1994292,NM_000238.4(KCNH2):c.2289_2290dup (p.Pro764fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1994292,1994292,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958488:AG:A,KCNH2,VCV001968946,1968946,NM_000238.4(KCNH2):c.486del (p.Phe163fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1968946,1968946,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150957404:T:A,KCNH2,VCV001805233,1805233,NM_000238.4(KCNH2):c.1015A>T (p.Asn339Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1805233,1805233,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947380:G:GC,KCNH2,VCV001804945,1804945,NM_000238.4(KCNH2):c.3099dup (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1804945,1804945,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150957290:C:G,KCNH2,VCV001799488,1799488,NM_000238.4(KCNH2):c.1128+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1799488,1799488,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947667:C:CGGCG,KCNH2,VCV001797445,1797445,NM_000238.4(KCNH2):c.2900_2903dup (p.Gly969fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1797445,1797445,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947676:TC:T,KCNH2,VCV001797337,1797337,NM_000238.4(KCNH2):c.2894del (p.Gly965fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1797337,1797337,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947808:G:GC,KCNH2,VCV001795706,1795706,NM_000238.4(KCNH2):c.2762dup (p.Arg922fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1795706,1795706,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947819:TCGGCCCTGCCCCCGCC:T,KCNH2,VCV001795334,1795334,NM_000238.4(KCNH2):c.2736_2751del (p.Ala913fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1795334,1795334,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947836:C:CG,KCNH2,VCV001795320,1795320,NM_000238.4(KCNH2):c.2734dup (p.Arg912fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1795320,1795320,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947826:TGCCCCCGCCCGGCCCG:T,KCNH2,VCV001795256,1795256,NM_000238.4(KCNH2):c.2729_2744del (p.Pro910fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1795256,1795256,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948488:CG:C,KCNH2,VCV001794263,1794263,NM_000238.4(KCNH2):c.2647del (p.Arg883fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1794263,1794263,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948880:C:CA,KCNH2,VCV001793177,1793177,NM_000238.4(KCNH2):c.2567dup (p.Glu857fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1793177,1793177,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950189:C:CG,KCNH2,VCV001790360,1790360,NM_000238.4(KCNH2):c.2376dup (p.Asp793fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1790360,1790360,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974788:CG:A,KCNH2,VCV001789092,1789092,NM_000238.4(KCNH2):c.229_230delinsT (p.Arg77fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1789092,1789092,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950421:C:G,KCNH2,VCV001786650,1786650,NM_000238.4(KCNH2):c.2146-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1786650,1786650,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974746:TCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAG:T,KCNH2,VCV001785054,1785054,NM_000238.4(KCNH2):c.205_271del (p.Leu69fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1785054,1785054,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951106:TAGCAT:A,KCNH2,VCV001783287,1783287,NM_000238.4(KCNH2):c.1955_1960delinsT (p.Tyr652fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1783287,1783287,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951650:TG:T,KCNH2,VCV001779222,1779222,NM_000238.4(KCNH2):c.1742del (p.Ser581fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1779222,1779222,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951731:CAT:C,KCNH2,VCV001777473,1777473,NM_000238.4(KCNH2):c.1660_1661del (p.Met554fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1777473,1777473,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952596:C:CA,KCNH2,VCV001771379,1771379,NM_000238.4(KCNH2):c.1385dup (p.Met462fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1771379,1771379,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150957503:C:A,KCNH2,VCV001766052,1766052,NM_000238.4(KCNH2):c.917-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1766052,1766052,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958070:TGGCGCGGTGGCGG:T,KCNH2,VCV001765131,1765131,NM_000238.4(KCNH2):c.892_904del (p.Pro298fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1765131,1765131,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974931:G:C,KCNH2,VCV001764714,1764714,NM_000238.4(KCNH2):c.87C>G (p.Phe29Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1764714,1764714,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958047:CGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCT:C,KCNH2,VCV001762927,1762927,NM_000238.4(KCNH2):c.832_916+11del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1762927,1762927,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958239:C:CG,KCNH2,VCV001758500,1758500,NM_000238.4(KCNH2):c.735dup (p.Gly246fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1758500,1758500,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958417:G:GC,KCNH2,VCV001748411,1748411,NM_000238.4(KCNH2):c.557dup (p.Gly187fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1748411,1748411,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150959576:GGCCA:G,KCNH2,VCV001742104,1742104,NM_000238.4(KCNH2):c.464_467del (p.Leu155fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1742104,1742104,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150959582:C:T,KCNH2,VCV001742024,1742024,NM_000238.4(KCNH2):c.462G>A (p.Trp154Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1742024,1742024,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150959646:AT:A,KCNH2,VCV001736686,1736686,NM_000238.4(KCNH2):c.397del (p.Met133fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1736686,1736686,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947385:CGA:C,KCNH2,VCV001727478,1727478,NM_000238.4(KCNH2):c.3093_3094del (p.Arg1032fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1727478,1727478,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950163:C:T,KCNH2,VCV001713142,1713142,NM_000238.4(KCNH2):c.2398+5G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1713142,1713142,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958105:G:GGCCTC,KCNH2,VCV001711664,1711664,NM_000238.4(KCNH2):c.865_869dup (p.Met291fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1711664,1711664,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947667:C:CG,KCNH2,VCV001711663,1711663,NM_000238.4(KCNH2):c.2903dup (p.Gly970fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1711663,1711663,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950365:C:CGGCT,KCNH2,VCV001701539,1701539,NM_000238.4(KCNH2):c.2200_2201insAGCC (p.Arg734fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1701539,1701539,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951573:AT:A,KCNH2,VCV001698966,1698966,NM_000238.4(KCNH2):c.1819del (p.Ile607fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1698966,1698966,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974937:AC:A,KCNH2,VCV001683771,1683771,NM_000238.4(KCNH2):c.80del (p.Arg27fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1683771,1683771,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150959644:C:A,KCNH2,VCV001683770,1683770,NM_000238.4(KCNH2):c.400G>T (p.Glu134Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1683770,1683770,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951528:A:T,KCNH2,VCV001676088,1676088,NM_000238.4(KCNH2):c.1865T>A (p.Leu622His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1676088,1676088,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951789:ACGCGCACCAGCCGCAGCAGCCG:A,KCNH2,VCV001675096,1675096,NM_000238.4(KCNH2):c.1582_1603del (p.Arg528fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1675096,1675096,Short QT syndrome type 1;Long QT syndrome 2,Short QT syndrome type 1;Long QT syndrome 2,Short QT syndrome type 1;Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS|SQTS,assertion_condition_label,2,1.0,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True
+7:150947814:G:GCTACTCGGCCCTGCCCCCGCCCGGCC,KCNH2,VCV001527874,1527874,NM_000238.4(KCNH2):c.2731_2756dup (p.Ser919fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1527874,1527874,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952585:T:G,KCNH2,VCV001527873,1527873,NM_000238.4(KCNH2):c.1397A>C (p.Asp466Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1527873,1527873,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150977911:C:T,KCNH2,VCV001524546,1524546,NM_000238.4(KCNH2):c.3G>A (p.Met1Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1524546,1524546,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951121:C:G,KCNH2,VCV001521307,1521307,NM_000238.4(KCNH2):c.1946-1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1521307,1521307,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948959:AGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTG:A,KCNH2,VCV001499958,1499958,NM_000238.4(KCNH2):c.2399-108_2488del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1499958,1499958,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150957504:T:C,KCNH2,VCV001488212,1488212,NM_000238.4(KCNH2):c.917-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1488212,1488212,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951836:C:G,KCNH2,VCV001473108,1473108,NM_000238.4(KCNH2):c.1558-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1473108,1473108,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952693:G:T,KCNH2,VCV001467197,1467197,NM_000238.4(KCNH2):c.1289C>A (p.Ala430Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1467197,1467197,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974784:AGCGCGGCGCTGCGT:A,KCNH2,VCV001458718,1458718,NM_000238.4(KCNH2):c.220_233del (p.Thr74fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1458718,1458718,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150959621:C:CG,KCNH2,VCV001458716,1458716,NM_000238.4(KCNH2):c.422dup (p.Ala142fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1458716,1458716,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952677:CTCCTTCA:C,KCNH2,VCV001457690,1457690,NM_000238.4(KCNH2):c.1298_1304del (p.Leu433fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1457690,1457690,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950952:C:T,KCNH2,VCV001456278,1456278,NM_000238.4(KCNH2):c.2114G>A (p.Trp705Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1456278,1456278,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974807:C:CGTGCAGGAAGTCGCAG,KCNH2,VCV001456173,1456173,NM_000238.4(KCNH2):c.195_210dup (p.Gly71fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1456173,1456173,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150949012:A:T,KCNH2,VCV001455507,1455507,NM_000238.4(KCNH2):c.2436T>A (p.Tyr812Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1455507,1455507,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948451:CG:C,KCNH2,VCV001455493,1455493,NM_000238.4(KCNH2):c.2684del (p.Thr895fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1455493,1455493,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150959579:CA:C,KCNH2,VCV001453664,1453664,NM_000238.4(KCNH2):c.464del (p.Leu155fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1453664,1453664,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958153:TTCTCGGGAGCGCG:T,KCNH2,VCV001452777,1452777,NM_000238.4(KCNH2):c.809_821del (p.Thr270fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1452777,1452777,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950944:T:TGTAG,KCNH2,VCV001452601,1452601,NM_000238.4(KCNH2):c.2118_2121dup (p.Thr708fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1452601,1452601,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947392:G:GGC,KCNH2,VCV001452025,1452025,NM_000238.4(KCNH2):c.3086_3087dup (p.Pro1030fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1452025,1452025,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948910:AGG:A,KCNH2,VCV001439179,1439179,NM_000238.4(KCNH2):c.2536_2537del (p.Tyr845_Pro846insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1439179,1439179,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150945386:G:GT,KCNH2,VCV001434518,1434518,NM_000238.4(KCNH2):c.3458dup (p.His1153fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1434518,1434518,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951471:G:T,KCNH2,VCV001424837,1424837,NM_000238.4(KCNH2):c.1922C>A (p.Ser641Tyr),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1424837,1424837,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947440:GA:G,KCNH2,VCV001422891,1422891,NM_000238.4(KCNH2):c.3039del (p.Arg1014fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1422891,1422891,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947370:T:TCGCCC,KCNH2,VCV001414553,1414553,NM_000238.4(KCNH2):c.3105_3109dup (p.Asp1037fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1414553,1414553,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True
+7:150958169:CG:C,KCNH2,VCV001410227,1410227,NM_000238.4(KCNH2):c.805del (p.Arg269fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1410227,1410227,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948889:C:T,KCNH2,VCV001406991,1406991,NM_000238.4(KCNH2):c.2559G>A (p.Trp853Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1406991,1406991,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947629:C:CTGCTCTTCTCG,KCNH2,VCV001398420,1398420,NM_000238.4(KCNH2):c.2931_2941dup (p.Ser981fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1398420,1398420,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951763:C:CT,KCNH2,VCV001397577,1397577,NM_000238.4(KCNH2):c.1629dup (p.Glu544fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1397577,1397577,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True
+7:150959625:GA:G,KCNH2,VCV001338861,1338861,NM_000238.4(KCNH2):c.418del (p.Ser140fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1338861,1338861,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150977872:GA:G,KCNH2,VCV001335697,1335697,NM_000238.4(KCNH2):c.41del (p.Phe14fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1335697,1335697,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150957290:C:T,KCNH2,VCV001334904,1334904,NM_000238.4(KCNH2):c.1128+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1334904,1334904,Prolonged QT interval|Long QT syndrome,Prolonged QT interval|Long QT syndrome,Prolonged QT interval|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150977836:A:T,KCNH2,VCV001331098,1331098,NM_000238.4(KCNH2):c.76+2T>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,1331098,1331098,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id,,,,unanchored,0.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958185:TGGAGCCCGAGGCGTCG:T,KCNH2,VCV001323136,1323136,NM_000238.4(KCNH2):c.774_789del (p.Asp259fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1323136,1323136,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951685:C:A,KCNH2,VCV001284270,1284270,NM_000238.4(KCNH2):c.1708G>T (p.Ala570Ser),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1284270,1284270,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947796:CC:A,KCNH2,VCV001219815,1219815,NM_000238.4(KCNH2):c.2774_2775delinsT (p.Gly925fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1219815,1219815,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150957460:G:T,KCNH2,VCV001215035,1215035,NM_000238.4(KCNH2):c.959C>A (p.Ser320Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1215035,1215035,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951592:CG:C,KCNH2,VCV001213540,1213540,NM_000238.4(KCNH2):c.1800del (p.Ser600fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1213540,1213540,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150977836:A:AC,KCNH2,VCV001211558,1211558,NM_000238.4(KCNH2):c.76+1dup,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1211558,1211558,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958394:ACGGCCCCCGGGGCGCCCGCGCCGCCCGC:CCCGGT,KCNH2,VCV001202184,1202184,NM_000238.4(KCNH2):c.553_581delinsACCGGG (p.Ala185fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1202184,1202184,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950957:GT:G,KCNH2,VCV001201653,1201653,NM_000238.4(KCNH2):c.2108del (p.His703fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1201653,1201653,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947447:CT:C,KCNH2,VCV001191999,1191999,NM_000238.4(KCNH2):c.3032del (p.Glu1011fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1191999,1191999,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951535:T:C,KCNH2,VCV001189275,1189275,NM_000238.4(KCNH2):c.1858A>G (p.Ser620Gly),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1189275,1189275,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952557:G:T,KCNH2,VCV001178326,1178326,NM_000238.4(KCNH2):c.1425C>A (p.Tyr475Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1178326,1178326,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950421:C:T,KCNH2,VCV001163877,1163877,NM_000238.4(KCNH2):c.2146-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1163877,1163877,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947611:A:AG,KCNH2,VCV001098796,1098796,NM_000238.4(KCNH2):c.2959dup (p.Leu987fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1098796,1098796,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948450:C:CCGTG,KCNH2,VCV001076538,1076538,NM_000238.4(KCNH2):c.2682_2685dup (p.Asp896fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1076538,1076538,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150946951:G:GC,KCNH2,VCV001076264,1076264,NM_000238.4(KCNH2):c.3255dup (p.Pro1086fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1076264,1076264,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947371:CGCCCCGGG:C,KCNH2,VCV001074304,1074304,NM_000238.4(KCNH2):c.3101_3108del (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1074304,1074304,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947639:C:CGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCCTCCAG,KCNH2,VCV001073738,1073738,NM_000238.4(KCNH2):c.2931_2932insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu978fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1073738,1073738,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150957462:GGT:G,KCNH2,VCV001072804,1072804,NM_000238.4(KCNH2):c.955_956del (p.Thr319fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1072804,1072804,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948455:C:CGCCTG,KCNH2,VCV001072580,1072580,NM_000238.4(KCNH2):c.2676_2680dup (p.Arg894fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1072580,1072580,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947373:C:CCCCGGGGCCG,KCNH2,VCV001072040,1072040,NM_000238.4(KCNH2):c.3097_3106dup (p.Gly1036fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1072040,1072040,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951681:A:ATGGCG,KCNH2,VCV001070567,1070567,NM_000238.4(KCNH2):c.1707_1711dup (p.Ile571fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1070567,1070567,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947380:GCCGCCGACCCGGGC:G,KCNH2,VCV001070541,1070541,NM_000238.4(KCNH2):c.3086_3099del (p.Ser1029fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1070541,1070541,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974775:CTGCGCGGCAGCGCGGCGCTGCG:C,KCNH2,VCV001070208,1070208,NM_000238.4(KCNH2):c.221_242del (p.Thr74fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1070208,1070208,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958418:CCCGCGCCGCCCGA:C,KCNH2,VCV001069329,1069329,NM_000238.4(KCNH2):c.544_556del (p.Ser182fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1069329,1069329,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952509:GACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGT:G,KCNH2,VCV001069284,1069284,NM_000238.4(KCNH2):c.1420_1472del (p.Thr474fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1069284,1069284,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948892:GA:G,KCNH2,VCV001068978,1068978,NM_000238.4(KCNH2):c.2555del (p.Phe852fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1068978,1068978,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951565:T:C,KCNH2,VCV001066309,1066309,NM_000238.4(KCNH2):c.1828A>G (p.Lys610Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1066309,1066309,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150957276:CCGCTGGGCGC:GT,KCNH2,VCV001064627,1064627,NM_000238.4(KCNH2):c.1128+5_1128+15delinsAC,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1064627,1064627,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150949076:CT:C,KCNH2,VCV001064605,1064605,NM_000238.4(KCNH2):c.2399-28del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1064605,1064605,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951562:ACTTGTC:A,KCNH2,VCV001058879,1058879,NM_000238.4(KCNH2):c.1825_1830del (p.Asp609_Lys610del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1058879,1058879,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951496:T:G,KCNH2,VCV001001814,1001814,NM_000238.4(KCNH2):c.1897A>C (p.Asn633His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1001814,1001814,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947162:GGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCC:G,KCNH2,VCV000992792,992792,NM_000238.4(KCNH2):c.2692+167_3153-109del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,992792,992792,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948459:TG:T,KCNH2,VCV000983076,983076,NM_000238.4(KCNH2):c.2676del (p.Arg893fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,983076,983076,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951098:GA:G,KCNH2,VCV000979201,979201,NM_000238.4(KCNH2):c.1967del (p.Phe656fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,979201,979201,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950221:A:G,KCNH2,VCV000977169,977169,NM_000238.4(KCNH2):c.2345T>C (p.Ile782Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,977169,977169,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951484:C:A,KCNH2,VCV000977166,977166,NM_000238.4(KCNH2):c.1909G>T (p.Glu637Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,977166,977166,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952753:C:T,KCNH2,VCV000972695,972695,NM_000238.4(KCNH2):c.1229G>A (p.Trp410Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,972695,972695,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974872:C:A,KCNH2,VCV000972694,972694,NM_000238.4(KCNH2):c.146G>T (p.Cys49Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,972694,972694,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150957416:G:A,KCNH2,VCV000968402,968402,NM_000238.4(KCNH2):c.1003C>T (p.Gln335Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,968402,968402,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958161:AGC:A,KCNH2,VCV000960485,960485,NM_000238.4(KCNH2):c.812_813del (p.Arg271fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,960485,960485,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951646:T:TGC,KCNH2,VCV000958799,958799,NM_000238.4(KCNH2):c.1745_1746dup (p.Ile583fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,958799,958799,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150957391:AG:A,KCNH2,VCV000956361,956361,NM_000238.4(KCNH2):c.1027del (p.Leu343fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,956361,956361,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958266:GAC:G,KCNH2,VCV000955885,955885,NM_000238.4(KCNH2):c.707_708del (p.Gly236fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,955885,955885,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947800:C:CCCGG,KCNH2,VCV000949692,949692,NM_000238.4(KCNH2):c.2767_2770dup (p.Gly924fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,949692,949692,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947367:A:ACGTCG,KCNH2,VCV000947666,947666,NM_000238.4(KCNH2):c.3108_3112dup (p.Val1038fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,947666,947666,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947610:CA:C,KCNH2,VCV000943648,943648,NM_000238.4(KCNH2):c.2960del (p.Leu987fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,943648,943648,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951705:C:T,KCNH2,VCV000943351,943351,NM_000238.4(KCNH2):c.1688G>A (p.Trp563Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,943351,943351,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951097:CG:AA,KCNH2,VCV000943187,943187,NM_000238.4(KCNH2):c.1968_1969delinsTT (p.Gly657Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,MNV_or_substitution,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,943187,943187,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951076:GGATGATGGCCGACACGTTGCCGAA:G,KCNH2,VCV000941189,941189,NM_000238.4(KCNH2):c.1966_1989del (p.Phe656_Ile663del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,941189,941189,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952784:TG:T,KCNH2,VCV000939419,939419,NM_000238.4(KCNH2):c.1197del (p.Ile400fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,939419,939419,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948478:CTTGCG:C,KCNH2,VCV000937320,937320,NM_000238.4(KCNH2):c.2653_2657del (p.Arg885fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,937320,937320,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950279:CAT:C,KCNH2,VCV000937182,937182,NM_000238.4(KCNH2):c.2285_2286del (p.His762fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,937182,937182,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951117:AGGGCTGG:A,KCNH2,VCV000936138,936138,NM_000238.4(KCNH2):c.1946-4_1948del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,936138,936138,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958070:TG:T,KCNH2,VCV000934348,934348,NM_000238.4(KCNH2):c.904del (p.His302fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,934348,934348,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947373:CCCCGGGG:GCC,KCNH2,VCV000928528,928528,NM_000238.4(KCNH2):c.3100_3107delinsGGC (p.Pro1034fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,928528,928528,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947517:G:C,KCNH2,VCV000871784,871784,NM_000238.4(KCNH2):c.2966-3C>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,871784,871784,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974923:G:A,KCNH2,VCV000869439,869439,NM_000238.4(KCNH2):c.95C>T (p.Ala32Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,869439,869439,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951460:T:G,KCNH2,VCV000869431,869431,NM_000238.4(KCNH2):c.1933A>C (p.Met645Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,869431,869431,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974820:G:T,KCNH2,VCV000863419,863419,NM_000238.4(KCNH2):c.198C>A (p.Cys66Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,863419,863419,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150957305:C:CAG,KCNH2,VCV000858246,858246,NM_000238.4(KCNH2):c.1112_1113dup (p.Glu372fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,858246,858246,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974807:C:A,KCNH2,VCV000853484,853484,NM_000238.4(KCNH2):c.211G>T (p.Gly71Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,853484,853484,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951814:CA:C,KCNH2,VCV000851169,851169,NM_000238.4(KCNH2):c.1578del (p.Ala527fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,851169,851169,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958467:G:GC,KCNH2,VCV000850821,850821,NM_000238.4(KCNH2):c.507dup (p.Leu170fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,850821,850821,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948492:TGAAGCCACCC:T,KCNH2,VCV000846538,846538,NM_000238.4(KCNH2):c.2634_2643del (p.Gly879fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,846538,846538,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958194:AGGCGTCG:A,KCNH2,VCV000835590,835590,NM_000238.4(KCNH2):c.774_780del (p.Asp259fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,835590,835590,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150957316:TG:T,KCNH2,VCV000818076,818076,NM_000238.4(KCNH2):c.1102del (p.His368fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,818076,818076,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947784:C:CTCCCCCCA,KCNH2,VCV000817961,817961,NM_000238.4(KCNH2):c.2779_2786dup (p.Glu929fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,817961,817961,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947343:TGGAG:T,KCNH2,VCV000817602,817602,NM_000238.4(KCNH2):c.3133_3136del (p.Leu1045fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,817602,817602,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952564:G:A,KCNH2,VCV000811073,811073,NM_000238.4(KCNH2):c.1418C>T (p.Thr473Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,811073,811073,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952423:A:G,KCNH2,VCV000695023,695023,NM_000238.4(KCNH2):c.1557+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,695023,695023,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974767:TGCGCGATCTGCGCGGCAGC:T,KCNH2,VCV000692260,692260,NM_000238.4(KCNH2):c.232_250del (p.Ala78fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,692260,692260,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948519:C:CG,KCNH2,VCV000692259,692259,NM_000238.4(KCNH2):c.2616dup (p.Gly873fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,692259,692259,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947377:G:GGGGC,KCNH2,VCV000692257,692257,NM_000238.4(KCNH2):c.3099_3102dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,692257,692257,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951082:TG:T,KCNH2,VCV000667408,667408,NM_000238.4(KCNH2):c.1983del (p.Ile662fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,667408,667408,Congenital long QT syndrome|Long QT syndrome,Congenital long QT syndrome|Long QT syndrome,Congenital long QT syndrome|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948446:T:GTGTCG,KCNH2,VCV000663923,663923,NM_000238.4(KCNH2):c.2690delinsCGACAC (p.Lys897fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,663923,663923,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974871:GC:TT,KCNH2,VCV000663471,663471,NM_000238.4(KCNH2):c.146_147delinsAA (p.Cys49Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,663471,663471,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947039:C:CA,KCNH2,VCV000660047,660047,NM_000238.4(KCNH2):c.3167dup (p.Ser1057fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,660047,660047,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150946975:AGGCGGGC:A,KCNH2,VCV000657779,657779,NM_000238.4(KCNH2):c.3225_3231del (p.Pro1076fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,657779,657779,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952602:GT:G,KCNH2,VCV000652241,652241,NM_000238.4(KCNH2):c.1379del (p.Asp460fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,652241,652241,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951738:A:T,KCNH2,VCV000648088,648088,NM_000238.4(KCNH2):c.1655T>A (p.Leu552Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,648088,648088,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974933:AC:A,KCNH2,VCV000645394,645394,NM_000238.4(KCNH2):c.84del (p.Lys28fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,645394,645394,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974767:T:TGCGCGATCTGCGCGGCA,KCNH2,VCV000641517,641517,NM_000238.4(KCNH2):c.234_250dup (p.Gln84fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,641517,641517,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950308:GC:G,KCNH2,VCV000640022,640022,NM_000238.4(KCNH2):c.2257del (p.Ala753fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,640022,640022,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947371:C:CG,KCNH2,VCV000637977,637977,NM_000238.4(KCNH2):c.3108dup (p.Asp1037fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,637977,637977,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952842:CA:C,KCNH2,VCV000632866,632866,NM_000238.4(KCNH2):c.1139del (p.Leu380fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,632866,632866,Long QT syndrome|Long QT syndrome 2||Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2||Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2||Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951063:G:T,KCNH2,VCV000620172,620172,NM_000238.4(KCNH2):c.2003C>A (p.Ser668Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,620172,620172,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True
+7:150952634:G:A,KCNH2,VCV000620154,620154,NM_000238.4(KCNH2):c.1348C>T (p.Gln450Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,620154,620154,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951520:C:G,KCNH2,VCV000618184,618184,NM_000238.4(KCNH2):c.1873G>C (p.Val625Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,618184,618184,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947865:TG:T,KCNH2,VCV000598783,598783,NM_000238.4(KCNH2):c.2705del (p.Pro902fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,598783,598783,Long QT syndrome 2|Cardiovascular phenotype|Long QT syndrome,Long QT syndrome 2|Cardiovascular phenotype|Long QT syndrome,Long QT syndrome 2|Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958047:CGGCGCCCTCACCGGTGCT:C,KCNH2,VCV000582292,582292,NM_000238.4(KCNH2):c.910_916+11del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,582292,582292,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951638:C:G,KCNH2,VCV000581669,581669,NM_000238.4(KCNH2):c.1755G>C (p.Trp585Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,581669,581669,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150977836:ACT:A,KCNH2,VCV000579489,579489,NM_000238.4(KCNH2):c.76_76+1del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,579489,579489,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951702:A:T,KCNH2,VCV000572344,572344,NM_000238.4(KCNH2):c.1691T>A (p.Leu564Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,572344,572344,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947370:T:TCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGG,KCNH2,VCV000570715,570715,NM_000238.4(KCNH2):c.1129-831_3109dup,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,570715,570715,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951499:GAGAGACGTTG:CTTCA,KCNH2,VCV000570494,570494,NM_000238.4(KCNH2):c.1884_1894delinsTGAAG (p.Asn629_Pro632delinsGluAla),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,570494,570494,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947640:G:T,KCNH2,VCV000568003,568003,NM_000238.4(KCNH2):c.2931C>A (p.Cys977Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,568003,568003,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952848:CAG:C,KCNH2,VCV000565724,565724,NM_000238.4(KCNH2):c.1132_1133del (p.Leu378fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,565724,565724,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951545:G:C,KCNH2,VCV000560696,560696,NM_000238.4(KCNH2):c.1848C>G (p.Tyr616Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,560696,560696,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947391:GG:CGGGAGACCC,KCNH2,VCV000545950,545950,NM_000238.4(KCNH2):c.3088_3089delinsGGGTCTCCCG (p.Pro1030fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,545950,545950,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150959573:TG:T,KCNH2,VCV000526969,526969,NM_000238.4(KCNH2):c.470del (p.Pro157fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,526969,526969,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951704:C:T,KCNH2,VCV000526968,526968,NM_000238.4(KCNH2):c.1689G>A (p.Trp563Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,526968,526968,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947832:CGCCCG:C,KCNH2,VCV000526939,526939,NM_000238.4(KCNH2):c.2734_2738del (p.Arg912fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,526939,526939,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150977847:C:CA,KCNH2,VCV000526932,526932,NM_000238.4(KCNH2):c.66dup (p.Glu23Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,526932,526932,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958438:CGACGACTCCCGGGCCGTCAGCGCCA:C,KCNH2,VCV000526925,526925,NM_000238.4(KCNH2):c.512_536del (p.Leu171fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,526925,526925,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948478:C:CT,KCNH2,VCV000526908,526908,NM_000238.4(KCNH2):c.2657dup (p.Arg887fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,526908,526908,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958423:G:GCCGCCCGA,KCNH2,VCV000524038,524038,NM_000238.4(KCNH2):c.544_551dup (p.Ala185fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,524038,524038,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947372:G:GCCCCGGGGCCGCC,KCNH2,VCV000523953,523953,NM_000238.4(KCNH2):c.3095_3107dup (p.Asp1037fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,523953,523953,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150945390:CTG:C,KCNH2,VCV000523712,523712,NM_000238.4(KCNH2):c.3453_3454del (p.His1151fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,523712,523712,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958430:G:GACCGCACC,KCNH2,VCV000523697,523697,NM_000238.4(KCNH2):c.537_544dup (p.Ser182fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,523697,523697,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974926:A:T,KCNH2,VCV000520423,520423,NM_000238.4(KCNH2):c.92T>A (p.Ile31Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,520423,520423,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951772:GA:G,KCNH2,VCV000519551,519551,NM_000238.4(KCNH2):c.1620del (p.Arg541fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519551,519551,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947014:G:A,KCNH2,VCV000519524,519524,NM_000238.4(KCNH2):c.3193C>T (p.Gln1065Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519524,519524,Cardiovascular phenotype|Long QT syndrome|Short QT syndrome type 1;Long QT syndrome 2,Cardiovascular phenotype|Long QT syndrome|Short QT syndrome type 1;Long QT syndrome 2,Cardiovascular phenotype|Long QT syndrome|Short QT syndrome type 1;Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS|SQTS,assertion_condition_label,2,1.0,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True
+7:150947798:CCCCCGGCCGG:C,KCNH2,VCV000519509,519509,NM_000238.4(KCNH2):c.2763_2772del (p.Arg922fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519509,519509,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974856:G:C,KCNH2,VCV000519501,519501,NM_000238.4(KCNH2):c.162C>G (p.Tyr54Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519501,519501,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950329:GC:G,KCNH2,VCV000519473,519473,NM_000238.4(KCNH2):c.2236del (p.Ala746fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519473,519473,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952691:A:G,KCNH2,VCV000519399,519399,NM_000238.4(KCNH2):c.1291T>C (p.Phe431Leu),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519399,519399,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948449:TCCGTGCG:T,KCNH2,VCV000519378,519378,NM_000238.4(KCNH2):c.2680_2686del (p.Arg894fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519378,519378,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947386:G:GACCC,KCNH2,VCV000519348,519348,NM_000238.4(KCNH2):c.3090_3093dup (p.Arg1032fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519348,519348,Cardiovascular phenotype||Long QT syndrome,Cardiovascular phenotype||Long QT syndrome,Cardiovascular phenotype||Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951504:AC:A,KCNH2,VCV000519330,519330,NM_000238.4(KCNH2):c.1888del (p.Val630fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519330,519330,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958163:C:CT,KCNH2,VCV000519329,519329,NM_000238.4(KCNH2):c.811_812insA (p.Arg271fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519329,519329,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947377:GGGGCCGCCGACCC:G,KCNH2,VCV000519327,519327,NM_000238.4(KCNH2):c.3090_3102del (p.Arg1032fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519327,519327,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958167:TCCG:ACT,KCNH2,VCV000519255,519255,NM_000238.4(KCNH2):c.805_808delinsAGT (p.Arg269fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519255,519255,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958064:C:CTGGCG,KCNH2,VCV000519237,519237,NM_000238.4(KCNH2):c.906_910dup (p.Ser304fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519237,519237,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948996:ACTTGCCAGGC:A,KCNH2,VCV000519234,519234,NM_000238.4(KCNH2):c.2442_2451del (p.Arg814fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519234,519234,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150946876:C:T,KCNH2,VCV000519217,519217,NM_000238.4(KCNH2):c.3330+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519217,519217,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974710:CC:AA,KCNH2,VCV000519204,519204,NM_000238.4(KCNH2):c.307_307+1delinsTT,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519204,519204,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951537:AAGGTGAAGT:A,KCNH2,VCV000503778,503778,NM_000238.4(KCNH2):c.1847_1855del (p.Tyr616_Thr618del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,503778,503778,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974766:CTGCGCGATCTGCGCGGCAGCGCGGCGCTGCG:C,KCNH2,VCV000503735,503735,NM_000238.4(KCNH2):c.221_251del (p.Thr74fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,503735,503735,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950159:ACCCCATAC:A,KCNH2,VCV000503674,503674,NM_000238.4(KCNH2):c.2398+1_2398+8del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,503674,503674,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947373:CCCCGGGGCCGCCGA:C,KCNH2,VCV000503672,503672,NM_000238.4(KCNH2):c.3093_3106del (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,503672,503672,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947367:A:ACGTCGCC,KCNH2,VCV000503659,503659,NM_000238.4(KCNH2):c.3106_3112dup (p.Val1038fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,503659,503659,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947804:GC:G,KCNH2,VCV000495746,495746,NM_000238.4(KCNH2):c.2766del (p.Pro923fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,495746,495746,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951686:G:C,KCNH2,VCV000489342,489342,NM_000238.4(KCNH2):c.1707C>G (p.Tyr569Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,489342,489342,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974856:G:T,KCNH2,VCV000488895,488895,NM_000238.4(KCNH2):c.162C>A (p.Tyr54Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,488895,488895,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948510:C:A,KCNH2,VCV000488692,488692,NM_000238.4(KCNH2):c.2626G>T (p.Glu876Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,488692,488692,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150959583:C:T,KCNH2,VCV000456935,456935,NM_000238.4(KCNH2):c.461G>A (p.Trp154Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456935,456935,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947373:C:CCCCGGGG,KCNH2,VCV000456921,456921,NM_000238.4(KCNH2):c.3100_3106dup (p.Gly1036fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,456921,456921,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947381:C:CCG,KCNH2,VCV000456919,456919,NM_000238.4(KCNH2):c.3097_3098dup (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,456919,456919,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947383:G:GCCGAC,KCNH2,VCV000456918,456918,NM_000238.4(KCNH2):c.3092_3096dup (p.Arg1033fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,456918,456918,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950347:C:CA,KCNH2,VCV000456904,456904,NM_000238.4(KCNH2):c.2218dup (p.Cys740fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456904,456904,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950248:CCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGT:C,KCNH2,VCV000456903,456903,NM_000238.4(KCNH2):c.2180_2317del (p.Asp727_Ala772del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,456903,456903,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950421:CTG:TT,KCNH2,VCV000456902,456902,NM_000238.4(KCNH2):c.2146-3_2146-1delinsAA,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456902,456902,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951004:G:A,KCNH2,VCV000456901,456901,NM_000238.4(KCNH2):c.2062C>T (p.Gln688Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456901,456901,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952646:C:CA,KCNH2,VCV000456886,456886,NM_000238.4(KCNH2):c.1335dup (p.Gly446fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,456886,456886,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150957296:TGA:T,KCNH2,VCV000456876,456876,NM_000238.4(KCNH2):c.1121_1122del (p.Val374fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456876,456876,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947005:G:A,KCNH2,VCV000446417,446417,NM_000238.4(KCNH2):c.3202C>T (p.Gln1068Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,446417,446417,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952424:C:G,KCNH2,VCV000439845,439845,NM_000238.4(KCNH2):c.1557+1G>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,439845,439845,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947389:C:CCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCA,KCNH2,VCV000431374,431374,NM_000238.4(KCNH2):c.2906_3089dup (p.Gly989_Ala990insIleProGlyAspGlyArgAlaArgGluAspArgAlaTrpGlnArgTrpCysValTyrProAlaHisProAlaLeuLeuSerGlyCysArgArgLeuLeuArgSerValGlnHisPheGlnLeuLeuGlyGlyGlnSerGlyProProValProGlyAlaProSerMetProArgProHisProGlnProProGlnHisProProLeuGlnProValGlySerProTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,431374,431374,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947631:GCTCTT:G,KCNH2,VCV000431036,431036,NM_000238.4(KCNH2):c.2935_2939del (p.Lys979fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,431036,431036,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948456:G:GCCTGC,KCNH2,VCV000430730,430730,NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,430730,430730,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951114:A:C,KCNH2,VCV000427945,427945,NM_000238.4(KCNH2):c.1952T>G (p.Met651Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,427945,427945,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951027:AC:A,KCNH2,VCV000427944,427944,NM_000238.4(KCNH2):c.2038del (p.Val680fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,427944,427944,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951096:C:A,KCNH2,VCV000427076,427076,NM_000238.4(KCNH2):c.1970G>T (p.Gly657Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,427076,427076,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150958306:TGCCA:G,KCNH2,VCV000426429,426429,NM_000238.4(KCNH2):c.665_669delinsC (p.Val222fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,426429,426429,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951473:G:C,KCNH2,VCV000423753,423753,NM_000238.4(KCNH2):c.1920C>G (p.Phe640Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,423753,423753,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950937:CCG:C,KCNH2,VCV000423696,423696,NM_000238.4(KCNH2):c.2127_2128del (p.Asn709fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,423696,423696,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947419:T:TG,KCNH2,VCV000423015,423015,NM_000238.4(KCNH2):c.3060dup (p.Ser1021fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,423015,423015,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947683:GG:T,KCNH2,VCV000421672,421672,NM_000238.4(KCNH2):c.2887_2888delinsA (p.Pro963fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,421672,421672,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950983:G:A,KCNH2,VCV000420923,420923,NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,420923,420923,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947367:ACGTCGCCCCGGGGC:A,KCNH2,VCV000420585,420585,NM_000238.4(KCNH2):c.3099_3112del (p.Pro1034fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,420585,420585,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True
+7:150959706:A:ACCACATC,KCNH2,VCV000420260,420260,NM_000238.4(KCNH2):c.331_337dup (p.Val113fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,420260,420260,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951509:GC:G,KCNH2,VCV000419410,419410,NM_000238.4(KCNH2):c.1883del (p.Gly628fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,419410,419410,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150952468:GC:G,KCNH2,VCV000419379,419379,NM_000238.4(KCNH2):c.1513del (p.Ala505fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,419379,419379,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951667:G:A,KCNH2,VCV000419311,419311,NM_000238.4(KCNH2):c.1726C>T (p.Gln576Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,419311,419311,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150957370:GC:G,KCNH2,VCV000418919,418919,NM_000238.4(KCNH2):c.1048del (p.Ala350fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418919,418919,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947618:T:TG,KCNH2,VCV000418815,418815,NM_000238.4(KCNH2):c.2952dup (p.Asn985fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418815,418815,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948977:GC:G,KCNH2,VCV000418787,418787,NM_000238.4(KCNH2):c.2470del (p.Ala824fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418787,418787,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150959587:TGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCA:T,KCNH2,VCV000418670,418670,NM_000238.4(KCNH2):c.395_456del (p.Val132fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418670,418670,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974854:G:T,KCNH2,VCV000418597,418597,NM_000238.4(KCNH2):c.164C>A (p.Ser55Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,418597,418597,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947370:T:TCGCCCCGGGGC,KCNH2,VCV000405358,405358,NM_000238.4(KCNH2):c.3099_3109dup (p.Asp1037fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,405358,405358,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150959641:TC:T,KCNH2,VCV000405355,405355,NM_000238.4(KCNH2):c.402del (p.Lys135fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405355,405355,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951065:G:GT,KCNH2,VCV000405345,405345,NM_000238.4(KCNH2):c.2000dup (p.Tyr667Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405345,405345,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950200:A:ATC,KCNH2,VCV000405342,405342,NM_000238.4(KCNH2):c.2364_2365dup (p.Ile789fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405342,405342,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951542:G:T,KCNH2,VCV000392690,392690,NM_000238.4(KCNH2):c.1851C>A (p.Phe617Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,392690,392690,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951464:G:T,KCNH2,VCV000392341,392341,NM_000238.4(KCNH2):c.1929C>A (p.Cys643Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,392341,392341,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150951678:C:G,KCNH2,VCV000391858,391858,NM_000238.4(KCNH2):c.1715G>C (p.Gly572Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,391858,391858,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150948439:C:A,KCNH2,VCV000387850,387850,NM_000238.4(KCNH2):c.2692+5G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,387850,387850,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150959738:T:C,KCNH2,VCV000379451,379451,NM_000238.4(KCNH2):c.308-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,379451,379451,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947453:G:C,KCNH2,VCV000379293,379293,NM_000238.4(KCNH2):c.3027C>G (p.Tyr1009Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,379293,379293,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947006:T:TA,KCNH2,VCV000372942,372942,NM_000238.4(KCNH2):c.3200dup (p.Gln1068fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,372942,372942,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150974897:C:G,KCNH2,VCV000372589,372589,NM_000238.4(KCNH2):c.121G>C (p.Val41Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,372589,372589,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947372:G:GCC,KCNH2,VCV000372571,372571,NM_000238.4(KCNH2):c.3106_3107dup (p.Asp1037fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,372571,372571,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150947380:GC:G,KCNH2,VCV000372378,372378,NM_000238.4(KCNH2):c.3099del (p.Arg1035fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,372378,372378,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:150950167:C:A,KCNH2,VCV000372377,372377,NM_000238.4(KCNH2):c.2398+1G>T,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,372377,372377,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+3:38557241:T:C,SCN5A,VCV004814196,4814196,NM_000335.5(SCN5A):c.4286A>G (p.Asp1429Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4814196,4814196,SCN5A-related disorder,SCN5A-related disorder,SCN5A-related disorder,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38556563:G:A,SCN5A,VCV004814157,4814157,NM_000335.5(SCN5A):c.4312C>T (p.Gln1438Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4814157,4814157,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38555679:GGGGCTTCTT:G,SCN5A,VCV004814013,4814013,NM_000335.5(SCN5A):c.4507_4515del (p.Lys1503_Pro1505del),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4814013,4814013,Branchiootic syndrome 1,Branchiootic syndrome 1,Branchiootic syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38603729:C:A,SCN5A,VCV004757059,4757059,NM_000335.5(SCN5A):c.1873G>T (p.Glu625Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4757059,4757059,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38551453:GC:G,SCN5A,VCV004733790,4733790,NM_000335.5(SCN5A):c.4915del (p.Ala1639fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4733790,4733790,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38630345:TG:T,SCN5A,VCV004731428,4731428,NM_000335.5(SCN5A):c.357del (p.Ile120fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4731428,4731428,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38630309:A:G,SCN5A,VCV004730817,4730817,NM_000335.5(SCN5A):c.392+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4730817,4730817,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38581324:GT:G,SCN5A,VCV004727300,4727300,NM_000335.5(SCN5A):c.2834del (p.Asp945fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4727300,4727300,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38587440:GA:G,SCN5A,VCV004723344,4723344,NM_000335.5(SCN5A):c.2395del (p.Ser799fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4723344,4723344,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38603889:AC:A,SCN5A,VCV004722126,4722126,NM_000335.5(SCN5A):c.1712del (p.Ser571fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4722126,4722126,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38550953:G:A,SCN5A,VCV004721301,4721301,NM_000335.5(SCN5A):c.5416C>T (p.Gln1806Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4721301,4721301,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38613801:GAC:G,SCN5A,VCV004720439,4720439,NM_000335.5(SCN5A):c.643_644del (p.Val215fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4720439,4720439,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38581225:C:T,SCN5A,VCV004717480,4717480,NM_000335.5(SCN5A):c.2934G>A (p.Trp978Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4717480,4717480,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38557283:GC:G,SCN5A,VCV004716661,4716661,NM_001099405.2(SCN5A):c.4246-706del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4716661,4716661,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38597930:C:T,SCN5A,VCV004716468,4716468,NM_000335.5(SCN5A):c.2061G>A (p.Trp687Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4716468,4716468,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38557236:TG:T,SCN5A,VCV004714862,4714862,NM_000335.5(SCN5A):c.4290del (p.Arg1431fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4714862,4714862,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38576755:GC:G,SCN5A,VCV004712144,4712144,NM_000335.5(SCN5A):c.3413del (p.Gly1138fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4712144,4712144,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38556493:A:T,SCN5A,VCV004681217,4681217,NM_000335.5(SCN5A):c.4382T>A (p.Leu1461Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4681217,4681217,Brugada syndrome 1|Cardiac arrhythmia,Brugada syndrome 1|Cardiac arrhythmia,Brugada syndrome 1|Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38562538:C:G,SCN5A,VCV004614942,4614942,NM_000335.5(SCN5A):c.3838-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4614942,4614942,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38608150:C:G,SCN5A,VCV004614940,4614940,NM_000335.5(SCN5A):c.998+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4614940,4614940,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38599038:C:A,SCN5A,VCV004614936,4614936,NM_000335.5(SCN5A):c.1903G>T (p.Glu635Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4614936,4614936,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38613756:T:TA,SCN5A,VCV004537605,4537605,NM_000335.5(SCN5A):c.689dup (p.Ser231fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4537605,4537605,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38556576:A:C,SCN5A,VCV004536358,4536358,NM_000335.5(SCN5A):c.4299T>G (p.Tyr1433Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4536358,4536358,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38606140:C:A,SCN5A,VCV004531893,4531893,NM_000335.5(SCN5A):c.1149G>T (p.Arg383Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4531893,4531893,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38597749:TCTC:T,SCN5A,VCV004530664,4530664,NM_000335.5(SCN5A):c.2236GAG[1] (p.Glu747del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4530664,4530664,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38585841:C:T,SCN5A,VCV004526988,4526988,NM_000335.5(SCN5A):c.2637G>A (p.Trp879Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4526988,4526988,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38620842:C:A,SCN5A,VCV004160653,4160653,NM_000335.5(SCN5A):c.611+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4160653,4160653,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38609896:CTG:C,SCN5A,VCV004160651,4160651,NM_000335.5(SCN5A):c.770_771del (p.Thr257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4160651,4160651,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38585897:A:AG,SCN5A,VCV004084973,4084973,NM_000335.5(SCN5A):c.2580dup (p.Phe861fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4084973,4084973,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38550472:G:A,SCN5A,VCV004082128,4082128,NM_000335.5(SCN5A):c.5897C>T (p.Ser1966Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4082128,4082128,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38606687:C:G,SCN5A,VCV004071999,4071999,NM_000335.5(SCN5A):c.1122G>C (p.Trp374Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4071999,4071999,Sick sinus syndrome 1,Sick sinus syndrome 1,Sick sinus syndrome 1,variation_id,,,,representation_repairable,0.45,conduction,assertion_condition_label,1,-0.0,conduction,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38560422:C:A,SCN5A,VCV003898691,3898691,NM_000335.5(SCN5A):c.3967G>T (p.Val1323Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3898691,3898691,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38551118:AG:A,SCN5A,VCV003895188,3895188,NM_000335.5(SCN5A):c.5250del (p.Phe1751fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3895188,3895188,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38550902:GC:G,SCN5A,VCV003894898,3894898,NM_000335.5(SCN5A):c.5466del (p.Glu1822fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894898,3894898,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38606698:G:A,SCN5A,VCV003894008,3894008,NM_000335.5(SCN5A):c.1111C>T (p.Gln371Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3894008,3894008,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38556500:A:AG,SCN5A,VCV003893711,3893711,NM_000335.5(SCN5A):c.4374dup (p.Phe1459fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3893711,3893711,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38620885:CG:C,SCN5A,VCV003793221,3793221,NM_000335.5(SCN5A):c.568del (p.Arg190fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3793221,3793221,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38576677:CT:A,SCN5A,VCV003793218,3793218,NM_000335.5(SCN5A):c.3491_3492delinsT (p.Glu1164fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3793218,3793218,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38606773:C:A,SCN5A,VCV003778738,3778738,NM_000335.5(SCN5A):c.1036G>T (p.Glu346Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3778738,3778738,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38585783:A:ACTCTC,SCN5A,VCV003773853,3773853,NM_000335.5(SCN5A):c.2690_2694dup (p.Trp899fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3773853,3773853,SCN5A-related disorder,SCN5A-related disorder,SCN5A-related disorder,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38560424:AC:A,SCN5A,VCV003772281,3772281,NM_000335.5(SCN5A):c.3964del (p.Val1322fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3772281,3772281,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38581355:AG:A,SCN5A,VCV003766453,3766453,NM_000335.5(SCN5A):c.2803del (p.Leu935fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3766453,3766453,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38604795:T:TGA,SCN5A,VCV003730868,3730868,NM_000335.5(SCN5A):c.1450_1451dup (p.Gly485fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3730868,3730868,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38580981:C:A,SCN5A,VCV003729291,3729291,NM_000335.5(SCN5A):c.3178G>T (p.Glu1060Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3729291,3729291,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38555654:A:G,SCN5A,VCV003727847,3727847,NM_000335.5(SCN5A):c.4539+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3727847,3727847,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38551375:A:AG,SCN5A,VCV003723601,3723601,NM_000335.5(SCN5A):c.4993dup (p.Leu1665fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3723601,3723601,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38613831:G:C,SCN5A,VCV003723452,3723452,NM_000335.5(SCN5A):c.615C>G (p.Tyr205Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3723452,3723452,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38620958:C:CG,SCN5A,VCV003722844,3722844,NM_000335.5(SCN5A):c.495dup (p.Ala166fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3722844,3722844,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38562511:G:GT,SCN5A,VCV003722003,3722003,NM_000335.5(SCN5A):c.3863dup (p.Asn1288fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3722003,3722003,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38604029:TG:T,SCN5A,VCV003721680,3721680,NM_000335.5(SCN5A):c.1572del (p.Ser525fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3721680,3721680,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38556558:C:T,SCN5A,VCV003720482,3720482,NM_000335.5(SCN5A):c.4317G>A (p.Trp1439Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3720482,3720482,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38579495:G:A,SCN5A,VCV003699241,3699241,NM_001099404.2(SCN5A):c.3229C>T (p.Gln1077Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3699241,3699241,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38622468:CAT:C,SCN5A,VCV003668098,3668098,NM_000335.5(SCN5A):c.412_413del (p.Met138fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3668098,3668098,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38551233:C:T,SCN5A,VCV003663041,3663041,NM_000335.5(SCN5A):c.5136G>A (p.Trp1712Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3663041,3663041,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38562461:CG:C,SCN5A,VCV003662552,3662552,NM_000335.5(SCN5A):c.3913del (p.Arg1305fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3662552,3662552,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38576745:CT:C,SCN5A,VCV003661184,3661184,NM_000335.5(SCN5A):c.3423del (p.Asp1142fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3661184,3661184,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38550653:CCATGGCCGACACCTCTTCGTGCTTGCGCCGGAGTGTGGTGGTGATGGGCTCGTAGGAGATCTTGGATGGGTTGGCTGCCATGAACTTCTCCTCCATCTGGATCTTCAGGGCGTCCATCTCCCCAGACTCCCCCAGGACCCTTTTGGTGAAGGCAAAGAGAATGTCCATGCAATGGATGCGGTCCCCACTCACCATGGGCAGGTCCATGTTGATGAGGCTTATCTGGTTGGGCTTGGCGATACGGAGTGGCTCAGACAGGGCATCGGCAAAGTCAGACAGGACCGAATACTCAATAAACTGAGTGGCCTCTGGGTCAAATTTCTCCCAGATCTCATAGAACATATCGAAGTCGTCCTCACTCAGGGGCTCGGTGCTCTCCTCCGTGGCCACGCTGAAGTTCTCCAGGATGATGGCAATGTACATGTTGACCACGATGAGGAAGGAGATGATGATGTAGGTGGTGAAGAAGAGGATGCCCACGGCTGGGCTCCCGCAGTCCCCCCGAGAGCCATTGCTGTTGGGCAGAGTGGGGTCGCAGTAGGGCGGCCCAGTGTTGAGGATGGGG:C,SCN5A,VCV003660495,3660495,NM_000335.5(SCN5A):c.5151_5715del (p.Ser1717fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3660495,3660495,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38550980:A:AT,SCN5A,VCV003653975,3653975,NM_000335.5(SCN5A):c.5388_5389insA (p.Trp1797fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3653975,3653975,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38633076:C:A,SCN5A,VCV003649069,3649069,NM_000335.5(SCN5A):c.232G>T (p.Glu78Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3649069,3649069,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38550851:G:GC,SCN5A,VCV003645763,3645763,NM_000335.5(SCN5A):c.5517dup (p.Pro1840fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3645763,3645763,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38587574:C:G,SCN5A,VCV003644710,3644710,NM_000335.5(SCN5A):c.2263-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3644710,3644710,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38551094:A:AGGAGATGATGATGTAGGTGGTGAAGAAGAGGAGAT,SCN5A,VCV003642736,3642736,NM_000335.5(SCN5A):c.5274_5275insATCTCCTCTTCTTCACCACCTACATCATCATCTCC (p.Phe1759fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3642736,3642736,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38633069:AG:A,SCN5A,VCV003639026,3639026,NM_000335.5(SCN5A):c.238del (p.Leu80fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3639026,3639026,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38587399:C:G,SCN5A,VCV003633347,3633347,NM_000335.5(SCN5A):c.2436+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3633347,3633347,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38556531:A:C,SCN5A,VCV003600631,3600631,NM_000335.5(SCN5A):c.4344T>G (p.Tyr1448Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3600631,3600631,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38554311:A:C,SCN5A,VCV003544406,3544406,NM_000335.5(SCN5A):c.4778T>G (p.Phe1593Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3544406,3544406,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38604025:CG:C,SCN5A,VCV003438263,3438263,NM_000335.5(SCN5A):c.1576del (p.Arg526fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3438263,3438263,Cardiovascular phenotype|Brugada syndrome 1,Cardiovascular phenotype|Brugada syndrome 1,Cardiovascular phenotype|Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38587400:C:CAGGCG,SCN5A,VCV003385944,3385944,NM_000335.5(SCN5A):c.2431_2435dup (p.Leu813fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3385944,3385944,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38560288:CTCTG:C,SCN5A,VCV003385918,3385918,NM_000335.5(SCN5A):c.4097_4100del (p.Thr1366fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3385918,3385918,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38566505:A:C,SCN5A,VCV003383167,3383167,NM_000335.5(SCN5A):c.3741T>G (p.Tyr1247Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3383167,3383167,8 conditions,8 conditions,8 conditions,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38581086:C:A,SCN5A,VCV003381870,3381870,NM_000335.5(SCN5A):c.3073G>T (p.Glu1025Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3381870,3381870,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38606082:A:G,SCN5A,VCV003376929,3376929,NM_000335.5(SCN5A):c.1207T>C (p.Tyr403His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3376929,3376929,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38603774:CT:C,SCN5A,VCV003367173,3367173,NM_000335.5(SCN5A):c.1827del (p.Glu610fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3367173,3367173,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38598975:GC:G,SCN5A,VCV003345326,3345326,NM_000335.5(SCN5A):c.1965del (p.Glu655fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3345326,3345326,SCN5A-related disorder,SCN5A-related disorder,SCN5A-related disorder,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38598917:C:A,SCN5A,VCV003337556,3337556,NM_000335.5(SCN5A):c.2023+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3337556,3337556,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38566583:C:G,SCN5A,VCV003337555,3337555,NM_000335.5(SCN5A):c.3664-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3337555,3337555,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38557236:T:A,SCN5A,VCV003337551,3337551,NM_000335.5(SCN5A):c.4291A>T (p.Arg1431Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3337551,3337551,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38606784:A:AG,SCN5A,VCV003316598,3316598,NM_000335.5(SCN5A):c.1024dup (p.Leu342fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3316598,3316598,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38576776:TG:T,SCN5A,VCV003316597,3316597,NM_000335.5(SCN5A):c.3392del (p.Pro1131fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3316597,3316597,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38585883:G:C,SCN5A,VCV003316593,3316593,NM_000335.5(SCN5A):c.2595C>G (p.Tyr865Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3316593,3316593,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38620967:TG:T,SCN5A,VCV003252620,3252620,NM_000335.5(SCN5A):c.486del (p.Glu161_Tyr162insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3252620,3252620,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38587409:GGA:G,SCN5A,VCV003252218,3252218,NM_000335.5(SCN5A):c.2425_2426del (p.Ser809fs),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3252218,3252218,8 conditions,8 conditions,8 conditions,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38575395:CCTTCCCTGGG:C,SCN5A,VCV003251141,3251141,NM_000335.5(SCN5A):c.3555_3564del (p.Pro1186fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3251141,3251141,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38613752:CTG:C,SCN5A,VCV003251122,3251122,NM_000335.5(SCN5A):c.692_693del (p.Ser231fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3251122,3251122,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38598963:G:A,SCN5A,VCV003248566,3248566,NM_000335.5(SCN5A):c.1978C>T (p.Gln660Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3248566,3248566,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38604050:TC:T,SCN5A,VCV003238947,3238947,NM_000335.5(SCN5A):c.1551del (p.Thr518fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3238947,3238947,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38585930:CGAT:C,SCN5A,VCV003236392,3236392,NM_000335.5(SCN5A):c.2542ATC[1] (p.Ile849del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3236392,3236392,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38599037:T:TC,SCN5A,VCV003229479,3229479,NM_000335.5(SCN5A):c.1903dup (p.Glu635fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3229479,3229479,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38581204:CA:C,SCN5A,VCV003076028,3076028,NM_000335.5(SCN5A):c.2954del (p.Leu985fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3076028,3076028,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38581186:CTT:C,SCN5A,VCV003075937,3075937,NM_000335.5(SCN5A):c.2971_2972del (p.Lys991fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3075937,3075937,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38550979:C:T,SCN5A,VCV003075757,3075757,NM_000335.5(SCN5A):c.5390G>A (p.Trp1797Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3075757,3075757,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38556481:AT:A,SCN5A,VCV003075755,3075755,NM_000335.5(SCN5A):c.4393del (p.Ile1465fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,3075755,3075755,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,unanchored,0.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38580951:C:A,SCN5A,VCV003075752,3075752,NM_000335.5(SCN5A):c.3208G>T (p.Glu1070Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3075752,3075752,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38579447:TG:T,SCN5A,VCV003074416,3074416,NM_000335.5(SCN5A):c.3273del (p.Arg1092fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3074416,3074416,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38597824:T:TG,SCN5A,VCV003073663,3073663,NM_000335.5(SCN5A):c.2166dup (p.Ile723fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3073663,3073663,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38603902:AG:A,SCN5A,VCV003073053,3073053,NM_000335.5(SCN5A):c.1699del (p.Leu567fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3073053,3073053,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38554469:AT:A,SCN5A,VCV003071701,3071701,NM_000335.5(SCN5A):c.4619del (p.Asn1540fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3071701,3071701,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38560421:A:C,SCN5A,VCV003067128,3067128,NM_000335.5(SCN5A):c.3968T>G (p.Val1323Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3067128,3067128,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38556461:A:T,SCN5A,VCV003062283,3062283,NM_000335.5(SCN5A):c.4414T>A (p.Phe1472Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3062283,3062283,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38603710:A:C,SCN5A,VCV003027437,3027437,NM_000335.5(SCN5A):c.1890+2T>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3027437,3027437,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38606054:AC:A,SCN5A,VCV003024479,3024479,NM_000335.5(SCN5A):c.1234del (p.Val412fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3024479,3024479,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38581031:TC:T,SCN5A,VCV003001404,3001404,NM_000335.5(SCN5A):c.3127del (p.Glu1043fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3001404,3001404,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38606764:CG:C,SCN5A,VCV002910170,2910170,NM_000335.5(SCN5A):c.1044del (p.Asp349fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2910170,2910170,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38630309:A:C,SCN5A,VCV002862415,2862415,NM_000335.5(SCN5A):c.392+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2862415,2862415,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38581134:A:AG,SCN5A,VCV002861983,2861983,NM_000335.5(SCN5A):c.3024dup (p.Tyr1009fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2861983,2861983,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38579367:C:T,SCN5A,VCV002850091,2850091,NM_000335.5(SCN5A):c.3354G>A (p.Trp1118Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2850091,2850091,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38581152:TG:T,SCN5A,VCV002846167,2846167,NM_000335.5(SCN5A):c.3006del (p.Ser1003fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2846167,2846167,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38550951:C:CT,SCN5A,VCV002834047,2834047,NM_000335.5(SCN5A):c.5417dup (p.Phe1807fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2834047,2834047,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38586042:C:G,SCN5A,VCV002831276,2831276,NM_000335.5(SCN5A):c.2437-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2831276,2831276,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38622423:AG:A,SCN5A,VCV002829409,2829409,NM_000335.5(SCN5A):c.458del (p.Pro153fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2829409,2829409,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38551299:CAT:C,SCN5A,VCV002820677,2820677,NM_000335.5(SCN5A):c.5068_5069del (p.Met1690fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2820677,2820677,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38566552:T:A,SCN5A,VCV002818735,2818735,NM_000335.5(SCN5A):c.3694A>T (p.Lys1232Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2818735,2818735,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38555657:A:AG,SCN5A,VCV002817837,2817837,NM_000335.5(SCN5A):c.4537dup (p.Leu1513fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2817837,2817837,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38587499:CT:C,SCN5A,VCV002798618,2798618,NM_000335.5(SCN5A):c.2336del (p.Gln779fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2798618,2798618,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38604785:C:A,SCN5A,VCV002774482,2774482,NM_000335.5(SCN5A):c.1462G>T (p.Glu488Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2774482,2774482,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38604761:TGGGG:CAGA,SCN5A,VCV002774480,2774480,NM_000335.5(SCN5A):c.1482_1486delinsTCTG (p.Pro495fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2774480,2774480,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38581002:C:A,SCN5A,VCV002774462,2774462,NM_000335.5(SCN5A):c.3157G>T (p.Glu1053Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2774462,2774462,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38576660:C:A,SCN5A,VCV002774456,2774456,NM_000335.5(SCN5A):c.3508+1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2774456,2774456,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38556549:GT:G,SCN5A,VCV002774447,2774447,NM_000335.5(SCN5A):c.4325del (p.Asn1442fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2774447,2774447,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38581271:AG:A,SCN5A,VCV002767841,2767841,NM_000335.5(SCN5A):c.2887del (p.Leu963fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2767841,2767841,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38622407:AC:A,SCN5A,VCV002767035,2767035,NM_000335.5(SCN5A):c.474del (p.Lys158fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2767035,2767035,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38585881:G:T,SCN5A,VCV002764562,2764562,NM_000335.5(SCN5A):c.2597C>A (p.Ser866Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2764562,2764562,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38576660:C:G,SCN5A,VCV002764009,2764009,NM_000335.5(SCN5A):c.3508+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2764009,2764009,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38606062:CAG:C,SCN5A,VCV002754673,2754673,NM_000335.5(SCN5A):c.1225_1226del (p.Leu409fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2754673,2754673,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38554540:G:A,SCN5A,VCV002750658,2750658,NM_000335.5(SCN5A):c.4549C>T (p.Gln1517Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2750658,2750658,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38576675:TC:T,SCN5A,VCV002749678,2749678,NM_000335.5(SCN5A):c.3493del (p.Asp1165fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2749678,2749678,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38566430:C:T,SCN5A,VCV002739542,2739542,NM_000335.5(SCN5A):c.3816G>A (p.Trp1272Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2739542,2739542,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38581041:CG:C,SCN5A,VCV002733575,2733575,NM_000335.5(SCN5A):c.3117del (p.Asp1041fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2733575,2733575,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38609952:A:G,SCN5A,VCV002728351,2728351,NM_000335.5(SCN5A):c.716T>C (p.Ile239Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2728351,2728351,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38606750:G:GGTGTAGCC,SCN5A,VCV002719420,2719420,NM_000335.5(SCN5A):c.1051_1058dup (p.Ser354fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2719420,2719420,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38551073:AC:A,SCN5A,VCV002713386,2713386,NM_000335.5(SCN5A):c.5295del (p.Met1765fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2713386,2713386,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38557256:A:AT,SCN5A,VCV002708294,2708294,NM_000335.5(SCN5A):c.4270dup (p.Met1424fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2708294,2708294,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38566436:C:T,SCN5A,VCV002705691,2705691,NM_000335.5(SCN5A):c.3810G>A (p.Trp1270Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2705691,2705691,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38599043:GGCGT:G,SCN5A,VCV002587163,2587163,NM_000335.5(SCN5A):c.1894_1897del (p.Thr632fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2587163,2587163,Cardiovascular phenotype||Brugada syndrome,Cardiovascular phenotype||Brugada syndrome,Cardiovascular phenotype||Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38585801:G:T,SCN5A,VCV002582527,2582527,NM_000335.5(SCN5A):c.2677C>A (p.Arg893Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2582527,2582527,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38620950:G:T,SCN5A,VCV002574114,2574114,NM_000335.5(SCN5A):c.504C>A (p.Tyr168Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2574114,2574114,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38576782:C:G,SCN5A,VCV002574113,2574113,NM_000335.5(SCN5A):c.3388-1G>C,Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2574113,2574113,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38576710:GA:G,SCN5A,VCV002567176,2567176,NM_000335.5(SCN5A):c.3458del (p.Ile1153fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2567176,2567176,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38597909:G:T,SCN5A,VCV002567171,2567171,NM_000335.5(SCN5A):c.2082C>A (p.Tyr694Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2567171,2567171,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38560146:C:A,SCN5A,VCV002567167,2567167,NM_000335.5(SCN5A):c.4242+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2567167,2567167,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38560208:C:T,SCN5A,VCV002506126,2506126,NM_000335.5(SCN5A):c.4181G>A (p.Trp1394Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2506126,2506126,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38620925:G:GA,SCN5A,VCV002505150,2505150,NM_000335.5(SCN5A):c.528dup (p.Leu177fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2505150,2505150,Primary dilated cardiomyopathy,Primary dilated cardiomyopathy,Primary dilated cardiomyopathy,variation_id,,,,representation_repairable,0.45,cardiomyopathy_overlap,assertion_condition_label,1,-0.0,cardiomyopathy_overlap,structural_electrical,0.7,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38585891:T:A,SCN5A,VCV002498925,2498925,NM_000335.5(SCN5A):c.2587A>T (p.Lys863Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2498925,2498925,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38609828:G:T,SCN5A,VCV002444515,2444515,NM_000335.5(SCN5A):c.840C>A (p.Cys280Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2444515,2444515,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38613772:C:G,SCN5A,VCV002203341,2203341,NM_000335.5(SCN5A):c.674G>C (p.Arg225Pro),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2203341,2203341,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38604830:C:A,SCN5A,VCV002203340,2203340,NM_000335.5(SCN5A):c.1417G>T (p.Glu473Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2203340,2203340,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38585996:G:A,SCN5A,VCV002203339,2203339,NM_000335.5(SCN5A):c.2482C>T (p.Leu828Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2203339,2203339,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38585936:TG:T,SCN5A,VCV002203338,2203338,NM_000335.5(SCN5A):c.2541del (p.Ile848fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2203338,2203338,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38581358:AAG:A,SCN5A,VCV002203337,2203337,NM_000335.5(SCN5A):c.2799_2800del (p.Phe934fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2203337,2203337,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38554319:C:T,SCN5A,VCV002203335,2203335,NM_000335.5(SCN5A):c.4770G>A (p.Trp1590Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2203335,2203335,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38608215:C:T,SCN5A,VCV002126186,2126186,NM_000335.5(SCN5A):c.935-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2126186,2126186,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38551089:GAGGA:G,SCN5A,VCV002124520,2124520,NM_000335.5(SCN5A):c.5276_5279del (p.Phe1759fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2124520,2124520,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38556446:T:A,SCN5A,VCV002114785,2114785,NM_000335.5(SCN5A):c.4429A>T (p.Lys1477Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2114785,2114785,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38603949:CG:C,SCN5A,VCV002113775,2113775,NM_000335.5(SCN5A):c.1652del (p.Ala551fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2113775,2113775,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38562483:T:TG,SCN5A,VCV002107269,2107269,NM_000335.5(SCN5A):c.3891dup (p.Ile1298fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2107269,2107269,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38598994:A:T,SCN5A,VCV002107170,2107170,NM_000335.5(SCN5A):c.1947T>A (p.Cys649Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2107170,2107170,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38551532:TC:T,SCN5A,VCV002106626,2106626,NM_000335.5(SCN5A):c.4836del (p.Lys1613fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2106626,2106626,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38575375:CT:C,SCN5A,VCV002100770,2100770,NM_000335.5(SCN5A):c.3584del (p.Lys1195fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2100770,2100770,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38551234:C:T,SCN5A,VCV002094285,2094285,NM_000335.5(SCN5A):c.5135G>A (p.Trp1712Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,2094285,2094285,,,,unmatched,,,,unanchored,0.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38562539:T:A,SCN5A,VCV002088946,2088946,NM_000335.5(SCN5A):c.3838-2A>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2088946,2088946,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38587511:G:C,SCN5A,VCV002069900,2069900,NM_000335.5(SCN5A):c.2325C>G (p.Tyr775Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2069900,2069900,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38608216:T:C,SCN5A,VCV002057896,2057896,NM_000335.5(SCN5A):c.935-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2057896,2057896,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38606042:TA:T,SCN5A,VCV002039747,2039747,NM_000335.5(SCN5A):c.1246del (p.Tyr416fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2039747,2039747,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38620857:AC:A,SCN5A,VCV002036709,2036709,NM_000335.5(SCN5A):c.596del (p.Ser199fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2036709,2036709,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38605976:ATGGCCTCC:A,SCN5A,VCV002031437,2031437,NM_000335.5(SCN5A):c.1305_1312del (p.Gln435fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2031437,2031437,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38551074:C:G,SCN5A,VCV002027600,2027600,NM_000335.5(SCN5A):c.5295G>C (p.Met1765Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2027600,2027600,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38633101:GC:G,SCN5A,VCV002027105,2027105,NM_000335.5(SCN5A):c.206del (p.Gly69fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2027105,2027105,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38562414:C:A,SCN5A,VCV002026498,2026498,NM_000335.5(SCN5A):c.3960+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2026498,2026498,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38585766:C:T,SCN5A,VCV002016715,2016715,NM_000335.5(SCN5A):c.2712G>A (p.Trp904Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2016715,2016715,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38555656:C:CA,SCN5A,VCV002016359,2016359,NM_000335.5(SCN5A):c.4538dup (p.Asn1514fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2016359,2016359,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38630430:CTGGGGACA:C,SCN5A,VCV002011754,2011754,NM_000335.5(SCN5A):c.274-9_274-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2011754,2011754,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38580930:C:G,SCN5A,VCV001937049,1937049,NM_000335.5(SCN5A):c.3228+1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1937049,1937049,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38633203:G:GC,SCN5A,VCV001803812,1803812,NM_000335.5(SCN5A):c.104dup (p.Ser36fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1803812,1803812,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38581161:G:A,SCN5A,VCV001798592,1798592,NM_000335.5(SCN5A):c.2998C>T (p.Gln1000Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1798592,1798592,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38581372:CT:C,SCN5A,VCV001795999,1795999,NM_000335.5(SCN5A):c.2788-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1795999,1795999,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38585957:TC:T,SCN5A,VCV001792542,1792542,NM_000335.5(SCN5A):c.2520del (p.Asn841fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1792542,1792542,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38597737:C:G,SCN5A,VCV001788496,1788496,NM_000335.5(SCN5A):c.2254G>C (p.Gly752Arg),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1788496,1788496,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38603923:G:C,SCN5A,VCV001777850,1777850,NM_000335.5(SCN5A):c.1679C>G (p.Ser560Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1777850,1777850,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38604785:C:CCT,SCN5A,VCV001773144,1773144,NM_000335.5(SCN5A):c.1460_1461dup (p.Glu488fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1773144,1773144,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38633214:G:A,SCN5A,VCV001767167,1767167,NM_000335.5(SCN5A):c.94C>T (p.Gln32Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1767167,1767167,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38606058:CG:C,SCN5A,VCV001755450,1755450,NM_000335.5(SCN5A):c.1230del (p.Val411fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1755450,1755450,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38633267:CG:C,SCN5A,VCV001737836,1737836,NM_000335.5(SCN5A):c.40del (p.Arg14fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1737836,1737836,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38566552:TC:T,SCN5A,VCV001733997,1733997,NM_000335.5(SCN5A):c.3693del (p.Lys1232fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1733997,1733997,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38579379:C:T,SCN5A,VCV001730458,1730458,NM_000335.5(SCN5A):c.3342G>A (p.Trp1114Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1730458,1730458,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38579440:C:T,SCN5A,VCV001729777,1729777,NM_000335.5(SCN5A):c.3281G>A (p.Trp1094Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1729777,1729777,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38633133:G:A,SCN5A,VCV001691761,1691761,NM_000335.5(SCN5A):c.175C>T (p.Gln59Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1691761,1691761,Brugada syndrome 1|Brugada syndrome,Brugada syndrome 1|Brugada syndrome,Brugada syndrome 1|Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38575310:C:A,SCN5A,VCV001691220,1691220,NM_000335.5(SCN5A):c.3650G>T (p.Ser1217Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1691220,1691220,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38581062:G:A,SCN5A,VCV001678156,1678156,NM_000335.5(SCN5A):c.3097C>T (p.Gln1033Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1678156,1678156,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38562426:C:A,SCN5A,VCV001678123,1678123,NM_000335.5(SCN5A):c.3949G>T (p.Glu1317Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1678123,1678123,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38585800:C:A,SCN5A,VCV001527869,1527869,NM_000335.5(SCN5A):c.2678G>T (p.Arg893Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1527869,1527869,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38606150:T:C,SCN5A,VCV001521971,1521971,NM_000335.5(SCN5A):c.1141-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1521971,1521971,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38575295:A:G,SCN5A,VCV001510225,1510225,NM_000335.5(SCN5A):c.3663+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1510225,1510225,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38576782:C:T,SCN5A,VCV001502792,1502792,NM_000335.5(SCN5A):c.3388-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1502792,1502792,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38606667:A:C,SCN5A,VCV001502060,1502060,NM_000335.5(SCN5A):c.1140+2T>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1502060,1502060,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38633040:G:A,SCN5A,VCV001460043,1460043,NM_000335.5(SCN5A):c.268C>T (p.Gln90Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1460043,1460043,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38580984:G:A,SCN5A,VCV001458577,1458577,NM_000335.5(SCN5A):c.3175C>T (p.Gln1059Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1458577,1458577,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38575387:C:T,SCN5A,VCV001458575,1458575,NM_000335.5(SCN5A):c.3573G>A (p.Trp1191Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1458575,1458575,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38622396:TCACTCGACATA:T,SCN5A,VCV001455926,1455926,NM_000335.5(SCN5A):c.475_482+3del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1455926,1455926,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38581132:G:T,SCN5A,VCV001455755,1455755,NM_000335.5(SCN5A):c.3027C>A (p.Tyr1009Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1455755,1455755,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38604046:GA:G,SCN5A,VCV001455694,1455694,NM_000335.5(SCN5A):c.1555del (p.Ser519fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1455694,1455694,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38597900:C:T,SCN5A,VCV001454071,1454071,NM_000335.5(SCN5A):c.2091G>A (p.Trp697Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1454071,1454071,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38550922:AAGTC:A,SCN5A,VCV001452285,1452285,NM_000335.5(SCN5A):c.5443_5446del (p.Asp1815fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1452285,1452285,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38556501:GA:G,SCN5A,VCV001451878,1451878,NM_000335.5(SCN5A):c.4373del (p.Phe1458fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1451878,1451878,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38555697:GCTT:G,SCN5A,VCV001449654,1449654,NM_000335.5(SCN5A):c.4492AAG[1] (p.Lys1499del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1449654,1449654,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38556451:TGTTG:T,SCN5A,VCV001434817,1434817,NM_000335.5(SCN5A):c.4420_4423del (p.Gln1474fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1434817,1434817,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38633091:G:A,SCN5A,VCV001408176,1408176,NM_000335.5(SCN5A):c.217C>T (p.Gln73Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1408176,1408176,Cardiovascular phenotype|Brugada syndrome (shorter-than-normal QT interval),Cardiovascular phenotype|Brugada syndrome (shorter-than-normal QT interval),Cardiovascular phenotype|Brugada syndrome (shorter-than-normal QT interval),variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38604794:CT:C,SCN5A,VCV001406093,1406093,NM_000335.5(SCN5A):c.1452del (p.Gly485fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1406093,1406093,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38581116:CTG:C,SCN5A,VCV001392890,1392890,NM_000335.5(SCN5A):c.3041_3042del (p.Pro1014fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1392890,1392890,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38585944:A:AC,SCN5A,VCV001386100,1386100,NM_000335.5(SCN5A):c.2533dup (p.Val845fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1386100,1386100,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38620876:C:T,SCN5A,VCV001374462,1374462,NM_000335.5(SCN5A):c.578G>A (p.Trp193Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1374462,1374462,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38604012:GA:G,SCN5A,VCV001361908,1361908,NM_000335.5(SCN5A):c.1589del (p.Phe530fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1361908,1361908,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38606811:C:T,SCN5A,VCV001348900,1348900,NM_000335.5(SCN5A):c.999-1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1348900,1348900,Cardiovascular phenotype||Familial sick sinus syndrome,Cardiovascular phenotype||Familial sick sinus syndrome,Cardiovascular phenotype||Familial sick sinus syndrome,variation_id,,,,representation_repairable,0.45,conduction,assertion_condition_label,1,-0.0,conduction,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38613742:C:G,SCN5A,VCV001345786,1345786,NM_000335.5(SCN5A):c.703+1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1345786,1345786,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38554274:C:T,SCN5A,VCV001326912,1326912,NM_000335.5(SCN5A):c.4810+5G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1326912,1326912,Brugada syndrome|Brugada syndrome 1,Brugada syndrome|Brugada syndrome 1,Brugada syndrome|Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38608217:G:C,SCN5A,VCV001326908,1326908,NM_000335.5(SCN5A):c.935-3C>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1326908,1326908,Brugada syndrome|Brugada syndrome 1,Brugada syndrome|Brugada syndrome 1,Brugada syndrome|Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38566425:T:C,SCN5A,VCV001326907,1326907,NM_000335.5(SCN5A):c.3821A>G (p.Asp1274Gly),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1326907,1326907,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38556561:C:CT,SCN5A,VCV001299249,1299249,NM_000335.5(SCN5A):c.4313dup (p.Trp1439fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1299249,1299249,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38587515:TA:T,SCN5A,VCV001285130,1285130,NM_000335.5(SCN5A):c.2320del (p.Tyr774fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1285130,1285130,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38551459:C:A,SCN5A,VCV001188516,1188516,NM_000335.5(SCN5A):c.4910G>T (p.Arg1637Leu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1188516,1188516,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38597761:C:A,SCN5A,VCV001187556,1187556,NM_000335.5(SCN5A):c.2230G>T (p.Glu744Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1187556,1187556,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38566483:GC:G,SCN5A,VCV001185878,1185878,NM_000335.5(SCN5A):c.3762del (p.Leu1255fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1185878,1185878,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38609855:G:GAGCT,SCN5A,VCV001184975,1184975,NM_000335.5(SCN5A):c.809_812dup (p.Phe272fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1184975,1184975,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38581004:GC:G,SCN5A,VCV001076640,1076640,NM_000335.5(SCN5A):c.3154del (p.Ala1052fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1076640,1076640,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38576775:C:A,SCN5A,VCV001076635,1076635,NM_000335.5(SCN5A):c.3394G>T (p.Glu1132Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1076635,1076635,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38566487:CA:C,SCN5A,VCV001076515,1076515,NM_000335.5(SCN5A):c.3758del (p.Met1253fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1076515,1076515,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38609766:CA:C,SCN5A,VCV001076513,1076513,NM_000335.5(SCN5A):c.901del (p.Trp301fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1076513,1076513,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38551532:T:A,SCN5A,VCV001075437,1075437,NM_000335.5(SCN5A):c.4837A>T (p.Lys1613Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,1075437,1075437,,,,unmatched,,,,unanchored,0.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38560303:GC:G,SCN5A,VCV001073809,1073809,NM_000335.5(SCN5A):c.4085del (p.Cys1362fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1073809,1073809,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38556554:A:AT,SCN5A,VCV001073629,1073629,NM_000335.5(SCN5A):c.4320dup (p.Tyr1441fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1073629,1073629,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38585860:G:C,SCN5A,VCV001072446,1072446,NM_000335.5(SCN5A):c.2618C>G (p.Ser873Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1072446,1072446,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38630368:T:TA,SCN5A,VCV001071777,1071777,NM_000335.5(SCN5A):c.334dup (p.Tyr112fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1071777,1071777,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38581107:T:A,SCN5A,VCV001069115,1069115,NM_000335.5(SCN5A):c.3052A>T (p.Lys1018Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1069115,1069115,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38557230:C:A,SCN5A,VCV001068181,1068181,NM_000335.5(SCN5A):c.4296+1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1068181,1068181,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38597968:C:T,SCN5A,VCV001067586,1067586,NM_000335.5(SCN5A):c.2024-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1067586,1067586,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38560428:C:A,SCN5A,VCV001066010,1066010,NM_000335.5(SCN5A):c.3961G>T (p.Val1321Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1066010,1066010,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38557232:CCCCTGGAGTCCACAGCTGCATACATAATGT:C,SCN5A,VCV001012143,1012143,NM_000335.5(SCN5A):c.4265_4294del (p.Asp1422_Arg1431del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1012143,1012143,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38633253:C:A,SCN5A,VCV000988404,988404,NM_000335.5(SCN5A):c.55G>T (p.Glu19Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,988404,988404,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38554550:C:A,SCN5A,VCV000987436,987436,NM_000335.5(SCN5A):c.4540-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,987436,987436,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38613835:C:T,SCN5A,VCV000984516,984516,NM_000335.5(SCN5A):c.612-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,984516,984516,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38550925:TCAGA:T,SCN5A,VCV000984492,984492,NM_000335.5(SCN5A):c.5440_5443del (p.Ser1814fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,984492,984492,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38585689:A:T,SCN5A,VCV000979203,979203,NM_000335.5(SCN5A):c.2787+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,979203,979203,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,unanchored,0.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38587500:TG:T,SCN5A,VCV000979075,979075,NM_000335.5(SCN5A):c.2335del (p.Gln779fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,979075,979075,Long QT syndrome 3;Brugada syndrome 1,Long QT syndrome 3;Brugada syndrome 1,Long QT syndrome 3;Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38585996:G:C,SCN5A,VCV000978725,978725,NM_000335.5(SCN5A):c.2482C>G (p.Leu828Val),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,978725,978725,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38606091:C:A,SCN5A,VCV000972696,972696,NM_000335.5(SCN5A):c.1198G>T (p.Gly400Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,972696,972696,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38598978:C:A,SCN5A,VCV000972691,972691,NM_000335.5(SCN5A):c.1963G>T (p.Glu655Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,972691,972691,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38585901:CT:C,SCN5A,VCV000970218,970218,NM_000335.5(SCN5A):c.2576del (p.Gln859fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,970218,970218,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38581298:CT:C,SCN5A,VCV000961103,961103,NM_000335.5(SCN5A):c.2860del (p.Arg954fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,961103,961103,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38633176:CT:C,SCN5A,VCV000956404,956404,NM_000335.5(SCN5A):c.131del (p.Glu44fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,956404,956404,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38560264:G:GGT,SCN5A,VCV000952177,952177,NM_000335.5(SCN5A):c.4123_4124dup (p.Ile1376fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,952177,952177,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38581117:T:TGGGGGTGGCGGGGAGTA,SCN5A,VCV000944678,944678,NM_000335.5(SCN5A):c.3025_3041dup (p.Glu1015fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,944678,944678,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38620865:C:G,SCN5A,VCV000942054,942054,NM_000335.5(SCN5A):c.589G>C (p.Asp197His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,942054,942054,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38581343:A:G,SCN5A,VCV000940929,940929,NM_000335.5(SCN5A):c.2816T>C (p.Leu939Pro),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,940929,940929,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38613743:CT:C,SCN5A,VCV000937538,937538,NM_000335.5(SCN5A):c.702del (p.Gly235_Leu236insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,937538,937538,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38606062:C:CTATG,SCN5A,VCV000936474,936474,NM_000335.5(SCN5A):c.1226_1227insCATA (p.Ala410fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,936474,936474,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38633118:GC:G,SCN5A,VCV000928434,928434,NM_000335.5(SCN5A):c.189del (p.Lys63fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,928434,928434,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38551050:GT:G,SCN5A,VCV000927104,927104,NM_000335.5(SCN5A):c.5318del (p.Asn1773fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,927104,927104,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38562413:A:ACCCTCATG,SCN5A,VCV000927012,927012,NM_000335.5(SCN5A):c.3954_3960+1dup,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,927012,927012,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38562476:GA:G,SCN5A,VCV000917995,917995,NM_000335.5(SCN5A):c.3898del (p.Ser1300fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,917995,917995,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38585735:AT:A,SCN5A,VCV000863801,863801,NM_000335.5(SCN5A):c.2742del (p.Leu914fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,863801,863801,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38562529:CAG:C,SCN5A,VCV000858385,858385,NM_000335.5(SCN5A):c.3844_3845del (p.Leu1282fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,858385,858385,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38550877:TG:T,SCN5A,VCV000856890,856890,NM_000335.5(SCN5A):c.5491del (p.Gln1831fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,856890,856890,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38550990:GA:G,SCN5A,VCV000853346,853346,NM_000335.5(SCN5A):c.5378del (p.Phe1793fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,853346,853346,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38620877:AT:A,SCN5A,VCV000851951,851951,NM_000335.5(SCN5A):c.576del (p.Trp193fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,851951,851951,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38587575:T:C,SCN5A,VCV000851217,851217,NM_000335.5(SCN5A):c.2263-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,851217,851217,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38622405:A:C,SCN5A,VCV000850294,850294,NM_000335.5(SCN5A):c.477T>G (p.Tyr159Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,850294,850294,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38633190:G:A,SCN5A,VCV000848941,848941,NM_000335.5(SCN5A):c.118C>T (p.Gln40Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,848941,848941,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38560209:AG:A,SCN5A,VCV000848007,848007,NM_000335.5(SCN5A):c.4179del (p.Trp1394fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,848007,848007,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38575452:C:T,SCN5A,VCV000847226,847226,NM_000335.5(SCN5A):c.3509-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,847226,847226,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38581258:CT:C,SCN5A,VCV000845474,845474,NM_000335.5(SCN5A):c.2900del (p.Gln967fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,845474,845474,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38606705:CA:C,SCN5A,VCV000844438,844438,NM_000335.5(SCN5A):c.1103del (p.Leu368fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,844438,844438,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38554381:A:G,SCN5A,VCV000830371,830371,NM_000335.5(SCN5A):c.4708T>C (p.Phe1570Leu),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,exact_match_without_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,830371,830371,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,unanchored,0.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38562436:CAG:C,SCN5A,VCV000817608,817608,NM_000335.5(SCN5A):c.3937_3938del (p.Leu1313fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,817608,817608,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38603945:C:A,SCN5A,VCV000811838,811838,NM_000335.5(SCN5A):c.1657G>T (p.Glu553Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,811838,811838,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38576715:G:A,SCN5A,VCV000801959,801959,NM_000335.5(SCN5A):c.3454C>T (p.Gln1152Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,801959,801959,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38554372:C:A,SCN5A,VCV000691966,691966,NM_000335.5(SCN5A):c.4717G>T (p.Glu1573Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,691966,691966,Brugada syndrome 1|Cardiac arrhythmia|Brugada syndrome,Brugada syndrome 1|Cardiac arrhythmia|Brugada syndrome,Brugada syndrome 1|Cardiac arrhythmia|Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38557229:A:AC,SCN5A,VCV000691705,691705,NM_000335.5(SCN5A):c.4296+1dup,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,691705,691705,Ventricular tachycardia,Ventricular tachycardia,Ventricular tachycardia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38551515:CG:C,SCN5A,VCV000689494,689494,NM_000335.5(SCN5A):c.4853del (p.Pro1618fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,689494,689494,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38557286:T:C,SCN5A,VCV000667016,667016,NM_000335.5(SCN5A):c.4243-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,667016,667016,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38575390:C:T,SCN5A,VCV000660776,660776,NM_000335.5(SCN5A):c.3570G>A (p.Trp1190Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,660776,660776,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,unanchored,0.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38587537:T:TG,SCN5A,VCV000654856,654856,NM_000335.5(SCN5A):c.2298dup (p.Lys767fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,654856,654856,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38606674:G:A,SCN5A,VCV000641344,641344,NM_000335.5(SCN5A):c.1135C>T (p.Gln379Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,641344,641344,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38555735:G:T,SCN5A,VCV000637991,637991,NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,637991,637991,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38606743:C:A,SCN5A,VCV000637989,637989,NM_000335.5(SCN5A):c.1066G>T (p.Asp356Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,637989,637989,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38581213:A:T,SCN5A,VCV000633410,633410,NM_000335.5(SCN5A):c.2946T>A (p.Cys982Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,633410,633410,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38566565:G:C,SCN5A,VCV000632980,632980,NM_000335.5(SCN5A):c.3681C>G (p.Tyr1227Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,632980,632980,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38556566:G:A,SCN5A,VCV000598785,598785,NM_000335.5(SCN5A):c.4309C>T (p.Pro1437Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,598785,598785,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38622447:G:T,SCN5A,VCV000598784,598784,NM_000335.5(SCN5A):c.435C>A (p.Cys145Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,598784,598784,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38550986:C:A,SCN5A,VCV000583354,583354,NM_000335.5(SCN5A):c.5383G>T (p.Glu1795Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,583354,583354,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38554434:CT:C,SCN5A,VCV000582177,582177,NM_000335.5(SCN5A):c.4654del (p.Ser1552fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,582177,582177,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38555665:T:TGGG,SCN5A,VCV000581866,581866,NM_000335.5(SCN5A):c.4527_4529dup (p.Pro1510dup),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,581866,581866,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38550986:CAT:C,SCN5A,VCV000579734,579734,NM_000335.5(SCN5A):c.5381_5382del (p.Phe1793_Tyr1794insTer),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,579734,579734,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38550773:C:A,SCN5A,VCV000572957,572957,NM_000335.5(SCN5A):c.5596G>T (p.Glu1866Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,572957,572957,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38551007:CCTCA:C,SCN5A,VCV000572252,572252,NM_000335.5(SCN5A):c.5358_5361del (p.Ser1786fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,572252,572252,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38609920:G:C,SCN5A,VCV000572011,572011,NM_000335.5(SCN5A):c.748C>G (p.Leu250Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,572011,572011,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38551093:A:C,SCN5A,VCV000571408,571408,NM_000335.5(SCN5A):c.5276T>G (p.Phe1759Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,571408,571408,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38555727:G:A,SCN5A,VCV000560692,560692,NM_000335.5(SCN5A):c.4468C>T (p.Gln1490Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,560692,560692,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38603988:AC:A,SCN5A,VCV000523568,523568,NM_000335.5(SCN5A):c.1613del (p.Gly538fs),Pathogenic/Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,523568,523568,Sick sinus syndrome 1|Cardiac arrhythmia,Sick sinus syndrome 1|Cardiac arrhythmia,Sick sinus syndrome 1|Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia|conduction,assertion_condition_label,2,1.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38581191:G:A,SCN5A,VCV000520461,520461,NM_000335.5(SCN5A):c.2968C>T (p.Gln990Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,520461,520461,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38566437:C:T,SCN5A,VCV000519554,519554,NM_000335.5(SCN5A):c.3809G>A (p.Trp1270Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519554,519554,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38579461:GC:G,SCN5A,VCV000519464,519464,NM_000335.5(SCN5A):c.3259del (p.Ala1087fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519464,519464,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38598917:C:T,SCN5A,VCV000519460,519460,NM_000335.5(SCN5A):c.2023+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519460,519460,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38556493:AG:A,SCN5A,VCV000519429,519429,NM_000335.5(SCN5A):c.4381del (p.Thr1460_Leu1461insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519429,519429,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38551074:C:T,SCN5A,VCV000519384,519384,NM_000335.5(SCN5A):c.5295G>A (p.Met1765Ile),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519384,519384,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38586012:C:T,SCN5A,VCV000505895,505895,NM_000335.5(SCN5A):c.2466G>A (p.Trp822Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,505895,505895,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38609966:T:C,SCN5A,VCV000505834,505834,NM_000335.5(SCN5A):c.704-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,505834,505834,Brugada syndrome||Cardiovascular phenotype,Brugada syndrome||Cardiovascular phenotype,Brugada syndrome||Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38575452:C:G,SCN5A,VCV000496573,496573,NM_000335.5(SCN5A):c.3509-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,496573,496573,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38562501:AG:A,SCN5A,VCV000463332,463332,NM_000335.5(SCN5A):c.3873del (p.Phe1292fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463332,463332,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38581077:AC:A,SCN5A,VCV000463318,463318,NM_000335.5(SCN5A):c.3081del (p.Phe1028fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,463318,463318,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38633104:A:T,SCN5A,VCV000463308,463308,NM_000335.5(SCN5A):c.204T>A (p.Tyr68Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,463308,463308,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38606688:C:T,SCN5A,VCV000463292,463292,NM_000335.5(SCN5A):c.1121G>A (p.Trp374Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463292,463292,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38550909:CAG:C,SCN5A,VCV000452184,452184,NM_000335.5(SCN5A):c.5458_5459del (p.Leu1820fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,452184,452184,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38622414:C:T,SCN5A,VCV000448976,448976,NM_000335.5(SCN5A):c.468G>A (p.Trp156Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,448976,448976,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38551076:T:A,SCN5A,VCV000446418,446418,NM_000335.5(SCN5A):c.5293A>T (p.Met1765Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,446418,446418,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38560392:TGGACG:T,SCN5A,VCV000432733,432733,NM_000335.5(SCN5A):c.3992_3996del (p.Pro1331fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,432733,432733,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38622491:T:C,SCN5A,VCV000432148,432148,NM_000335.5(SCN5A):c.393-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,432148,432148,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38560245:G:A,SCN5A,VCV000431948,431948,NM_000335.5(SCN5A):c.4144C>T (p.Gln1382Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,431948,431948,Cardiovascular phenotype|Brugada syndrome,Cardiovascular phenotype|Brugada syndrome,Cardiovascular phenotype|Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38633204:CCG:C,SCN5A,VCV000429979,429979,NM_000335.5(SCN5A):c.102_103del (p.Gly35fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,429979,429979,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38551289:G:A,SCN5A,VCV000426612,426612,NM_000335.5(SCN5A):c.5080C>T (p.Gln1694Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,426612,426612,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38551181:TG:T,SCN5A,VCV000426254,426254,NM_000335.5(SCN5A):c.5187del (p.Thr1730fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,426254,426254,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38560197:TC:T,SCN5A,VCV000423108,423108,NM_000335.5(SCN5A):c.4191del (p.Val1399fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,423108,423108,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38579476:GA:G,SCN5A,VCV000422443,422443,NM_000335.5(SCN5A):c.3244del (p.Ser1082fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,422443,422443,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38599020:G:A,SCN5A,VCV000421358,421358,NM_000335.5(SCN5A):c.1921C>T (p.Gln641Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,421358,421358,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38550838:C:CCACT,SCN5A,VCV000420342,420342,NM_000335.5(SCN5A):c.5527_5530dup (p.Gly1844fs),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,420342,420342,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38587501:G:GTTGGAAA,SCN5A,VCV000419109,419109,NM_000335.5(SCN5A):c.2334_2335insTTTCCAA (p.Gln779fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,419109,419109,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38550944:C:A,SCN5A,VCV000406440,406440,NM_000335.5(SCN5A):c.5425G>T (p.Glu1809Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,406440,406440,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38633203:GC:G,SCN5A,VCV000406435,406435,NM_000335.5(SCN5A):c.104del (p.Gly35fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,406435,406435,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38579439:C:T,SCN5A,VCV000406434,406434,NM_000335.5(SCN5A):c.3282G>A (p.Trp1094Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,406434,406434,Brugada syndrome||Brugada syndrome 1|Cardiovascular phenotype,Brugada syndrome||Brugada syndrome 1|Cardiovascular phenotype,Brugada syndrome||Brugada syndrome 1|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38609764:C:A,SCN5A,VCV000406427,406427,NM_000335.5(SCN5A):c.904G>T (p.Glu302Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,406427,406427,Cardiovascular phenotype|SCN5A-related disorder|Brugada syndrome (shorter-than-normal QT interval),Cardiovascular phenotype|SCN5A-related disorder|Brugada syndrome (shorter-than-normal QT interval),Cardiovascular phenotype|SCN5A-related disorder|Brugada syndrome (shorter-than-normal QT interval),variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38581226:C:T,SCN5A,VCV000406426,406426,NM_000335.5(SCN5A):c.2933G>A (p.Trp978Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,406426,406426,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38581136:GGGGTGGCAATGCA:G,SCN5A,VCV000406419,406419,NM_000335.5(SCN5A):c.3010_3022del (p.Cys1004fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,406419,406419,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38550782:C:A,SCN5A,VCV000406418,406418,NM_000335.5(SCN5A):c.5587G>T (p.Glu1863Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,406418,406418,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38550951:CTGAG:C,SCN5A,VCV000406415,406415,NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,406415,406415,Cardiovascular phenotype|8 conditions,Cardiovascular phenotype|8 conditions,Cardiovascular phenotype|8 conditions,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38585842:C:T,SCN5A,VCV000406396,406396,NM_000335.5(SCN5A):c.2636G>A (p.Trp879Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,406396,406396,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38597804:GAGT:G,SCN5A,VCV000403732,403732,NM_000335.5(SCN5A):c.2184_2186del (p.Leu729del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,403732,403732,Familial isolated arrhythmogenic right ventricular dysplasia|Brugada syndrome 1,Familial isolated arrhythmogenic right ventricular dysplasia|Brugada syndrome 1,Familial isolated arrhythmogenic right ventricular dysplasia|Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada|cardiomyopathy_overlap,assertion_condition_label,2,1.0,Brugada,structural_electrical,0.7,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+3:38633034:C:T,SCN5A,VCV000392337,392337,NM_000335.5(SCN5A):c.273+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,392337,392337,Cervical cancer,Cervical cancer,Cervical cancer,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38551459:C:G,SCN5A,VCV000389150,389150,NM_000335.5(SCN5A):c.4910G>C (p.Arg1637Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,389150,389150,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+3:38606034:G:A,SCN5A,VCV000374130,374130,NM_000335.5(SCN5A):c.1255C>T (p.Gln419Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,374130,374130,Syncope,Syncope,Syncope,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+21:34449542:GGCCAGGCCCGACATGTT:G,KCNE1,VCV004724223,4724223,NM_000219.6(KCNE1):c.76_92del (p.Asn26fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4724223,4724223,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False
+21:34449512:CT:C,KCNE1,VCV003601178,3601178,NM_000219.6(KCNE1):c.122del (p.Lys41fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3601178,3601178,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False
+21:34449404:TG:T,KCNE1,VCV001415503,1415503,NM_000219.6(KCNE1):c.230del (p.Pro77fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1415503,1415503,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False
+21:34449611:C:CGCTG,KCNE1,VCV001343372,1343372,NM_000219.6(KCNE1):c.20_23dup (p.Val9fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.4166666666666667,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1343372,1343372,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False
+21:34449634:T:A,KCNE1,VCV001065921,1065921,NM_000219.6(KCNE1):c.1A>T (p.Met1Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1065921,1065921,Long QT syndrome|Long QT syndrome 5,Long QT syndrome|Long QT syndrome 5,Long QT syndrome|Long QT syndrome 5,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False
+21:34449540:C:CG,KCNE1,VCV000812588,812588,NM_000219.6(KCNE1):c.94dup (p.Arg32fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,812588,812588,Long QT syndrome;Hereditary hearing loss and deafness,Long QT syndrome;Hereditary hearing loss and deafness,Long QT syndrome;Hereditary hearing loss and deafness,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False
+21:34449367:T:A,KCNE1,VCV000620398,620398,NM_000219.6(KCNE1):c.268A>T (p.Lys90Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,620398,620398,Long QT syndrome 5,Long QT syndrome 5,Long QT syndrome 5,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False
+21:34449429:TTGGA:T,KCNE1,VCV000527017,527017,NM_000219.6(KCNE1):c.202_205del (p.Ser68fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,527017,527017,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False
+21:34449406:GGT:TAGA,KCNE1,VCV000441101,441101,NM_000219.6(KCNE1):c.227_229delinsTCTA (p.Asp76fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.4166666666666667,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,441101,441101,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False
+1:237784024:C:A,RYR2,VCV004814200,4814200,NM_001035.3(RYR2):c.12312C>A (p.Asn4104Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4814200,4814200,RYR2-related disorder,RYR2-related disorder,RYR2-related disorder,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237808911:C:T,RYR2,VCV004800130,4800130,NM_001035.3(RYR2):c.14309C>T (p.Thr4770Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4800130,4800130,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237784290:G:T,RYR2,VCV004800118,4800118,NM_001035.3(RYR2):c.12578G>T (p.Cys4193Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4800118,4800118,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237783729:C:T,RYR2,VCV004800115,4800115,NM_001035.3(RYR2):c.12017C>T (p.Ser4006Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4800115,4800115,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237707057:A:G,RYR2,VCV004800104,4800104,NM_001035.3(RYR2):c.9689A>G (p.Gln3230Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4800104,4800104,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237633707:C:A,RYR2,VCV004800083,4800083,NM_001035.3(RYR2):c.6685C>A (p.Leu2229Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4800083,4800083,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237778718:C:A,RYR2,VCV004697937,4697937,NM_001035.3(RYR2):c.11828C>A (p.Ala3943Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4697937,4697937,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237778727:G:T,RYR2,VCV004614849,4614849,NM_001035.3(RYR2):c.11837G>T (p.Gly3946Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4614849,4614849,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237441455:CCGTGAGAATGGGATCTATACAACGTAAGGTAAGGTGATAGAAAAAAACATAATTTATAGAAGTAATTTTTTATGAATACACAAGCACAAG:C,RYR2,VCV004542511,4542511,NM_001035.3(RYR2):c.1143_1170+62del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4542511,4542511,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237784242:T:G,RYR2,VCV004537880,4537880,NM_001035.3(RYR2):c.12530T>G (p.Val4177Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4537880,4537880,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237783938:G:A,RYR2,VCV004531406,4531406,NM_001035.3(RYR2):c.12226G>A (p.Glu4076Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4531406,4531406,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237441383:G:T,RYR2,VCV004291726,4291726,NM_001035.3(RYR2):c.1070G>T (p.Gly357Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4291726,4291726,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237387326:C:T,RYR2,VCV004071994,4071994,NM_001035.3(RYR2):c.622C>T (p.Gln208Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4071994,4071994,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237793907:G:T,RYR2,VCV003949071,3949071,NM_001035.3(RYR2):c.13823G>T (p.Arg4608Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3949071,3949071,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237441275:TTTTTGAAATGTTTACTGACCTTTTTTTCCTCCTCTCCCCTTAGGA:ATTTTG,RYR2,VCV003901845,3901845,NM_001035.3(RYR2):c.1006-44_1007delinsATTTTG,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3901845,3901845,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237819130:G:T,RYR2,VCV003895065,3895065,NM_001035.3(RYR2):c.14528G>T (p.Arg4843Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3895065,3895065,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237801912:A:G,RYR2,VCV003894941,3894941,NM_001035.3(RYR2):c.14147A>G (p.Asp4716Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3894941,3894941,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237648501:C:T,RYR2,VCV003894655,3894655,NM_001035.3(RYR2):c.7400C>T (p.Ala2467Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894655,3894655,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237377353:C:A,RYR2,VCV003776659,3776659,NM_001035.3(RYR2):c.494C>A (p.Ala165Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3776659,3776659,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237783971:T:C,RYR2,VCV003766443,3766443,NM_001035.3(RYR2):c.12259T>C (p.Phe4087Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,3766443,3766443,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,unanchored,0.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237798092:G:A,RYR2,VCV003633845,3633845,NM_001035.3(RYR2):c.14012G>A (p.Gly4671Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3633845,3633845,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237784143:G:T,RYR2,VCV003633837,3633837,NM_001035.3(RYR2):c.12431G>T (p.Arg4144Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3633837,3633837,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237639059:A:G,RYR2,VCV003633806,3633806,NM_001035.3(RYR2):c.6973A>G (p.Ile2325Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3633806,3633806,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237784233:T:C,RYR2,VCV003572967,3572967,NM_001035.3(RYR2):c.12521T>C (p.Phe4174Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3572967,3572967,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237640950:C:T,RYR2,VCV003544417,3544417,NM_001035.3(RYR2):c.7169C>T (p.Thr2390Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3544417,3544417,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237638457:A:G,RYR2,VCV003544409,3544409,NM_001035.3(RYR2):c.6893A>G (p.Tyr2298Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3544409,3544409,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237778684:C:G,RYR2,VCV003391121,3391121,NM_001035.3(RYR2):c.11794C>G (p.Gln3932Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3391121,3391121,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,False
+1:237808910:A:G,RYR2,VCV003383138,3383138,NM_001035.3(RYR2):c.14308A>G (p.Thr4770Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3383138,3383138,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237727196:C:T,RYR2,VCV003382069,3382069,NM_001035.3(RYR2):c.10835C>T (p.Pro3612Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3382069,3382069,Catecholaminergic polymorphic ventricular tachycardia 1;Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Catecholaminergic polymorphic ventricular tachycardia 1;Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Catecholaminergic polymorphic ventricular tachycardia 1;Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237640956:A:T,RYR2,VCV003338338,3338338,NM_001035.3(RYR2):c.7175A>T (p.Tyr2392Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3338338,3338338,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237806143:C:T,RYR2,VCV003337537,3337537,NM_001035.3(RYR2):c.14158C>T (p.Leu4720Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3337537,3337537,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237708886:GAAAC:G,RYR2,VCV003065287,3065287,NM_001035.3(RYR2):c.9931_9934del (p.Lys3311fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3065287,3065287,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,False
+1:237819075:G:A,RYR2,VCV002920176,2920176,NM_001035.3(RYR2):c.14473G>A (p.Gly4825Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2920176,2920176,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237638437:C:A,RYR2,VCV002883988,2883988,NM_001035.3(RYR2):c.6873C>A (p.Asn2291Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2883988,2883988,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237643382:T:G,RYR2,VCV002865610,2865610,NM_001035.3(RYR2):c.7277T>G (p.Leu2426Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2865610,2865610,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237638462:G:C,RYR2,VCV002840453,2840453,NM_001035.3(RYR2):c.6898G>C (p.Asp2300His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2840453,2840453,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237445429:A:G,RYR2,VCV002806184,2806184,NM_001035.3(RYR2):c.1199A>G (p.Asp400Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2806184,2806184,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237793882:T:A,RYR2,VCV002758112,2758112,NM_001035.3(RYR2):c.13798T>A (p.Phe4600Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,2758112,2758112,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,unanchored,0.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237784223:C:G,RYR2,VCV002747580,2747580,NM_001035.3(RYR2):c.12511C>G (p.Gln4171Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2747580,2747580,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237648521:A:G,RYR2,VCV002734117,2734117,NM_001035.3(RYR2):c.7420A>G (p.Arg2474Gly),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2734117,2734117,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237783984:C:G,RYR2,VCV002727021,2727021,NM_001035.3(RYR2):c.12272C>G (p.Ala4091Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2727021,2727021,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237832640:T:C,RYR2,VCV002719667,2719667,NM_001035.3(RYR2):c.14897T>C (p.Leu4966Pro),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2719667,2719667,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237377426:A:C,RYR2,VCV002707246,2707246,NM_001035.3(RYR2):c.567A>C (p.Glu189Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2707246,2707246,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237784131:G:C,RYR2,VCV002587823,2587823,NM_001035.3(RYR2):c.12419G>C (p.Gly4140Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2587823,2587823,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237638403:T:C,RYR2,VCV002575972,2575972,NM_001035.3(RYR2):c.6839T>C (p.Leu2280Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575972,2575972,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237806282:A:C,RYR2,VCV002500749,2500749,NM_001035.3(RYR2):c.14297A>C (p.Gln4766Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2500749,2500749,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237778695:G:C,RYR2,VCV002441802,2441802,NM_001035.3(RYR2):c.11805G>C (p.Leu3935Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2441802,2441802,Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia|cardiomyopathy_overlap,assertion_condition_label,3,1.584962500721156,CPVT,structural_electrical,0.7,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237784307:G:C,RYR2,VCV002435632,2435632,NM_001035.3(RYR2):c.12595G>C (p.Glu4199Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2435632,2435632,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237783728:T:A,RYR2,VCV002433112,2433112,NM_001035.3(RYR2):c.12016T>A (p.Ser4006Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2433112,2433112,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237377349:C:T,RYR2,VCV002203006,2203006,NM_001035.3(RYR2):c.490C>T (p.Pro164Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2203006,2203006,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237784187:C:A,RYR2,VCV002169498,2169498,NM_001035.3(RYR2):c.12475C>A (p.Gln4159Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2169498,2169498,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237633624:G:A,RYR2,VCV002151921,2151921,NM_001035.3(RYR2):c.6602G>A (p.Cys2201Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2151921,2151921,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237808913:G:T,RYR2,VCV002125455,2125455,NM_001035.3(RYR2):c.14311G>T (p.Val4771Phe),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2125455,2125455,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237783980:C:G,RYR2,VCV002120716,2120716,NM_001035.3(RYR2):c.12268C>G (p.Pro4090Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2120716,2120716,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237643361:T:C,RYR2,VCV002105630,2105630,NM_001035.3(RYR2):c.7256T>C (p.Ile2419Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2105630,2105630,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237638480:G:T,RYR2,VCV002101383,2101383,NM_001035.3(RYR2):c.6916G>T (p.Val2306Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2101383,2101383,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237445429:A:C,RYR2,VCV002075220,2075220,NM_001035.3(RYR2):c.1199A>C (p.Asp400Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2075220,2075220,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237633654:A:C,RYR2,VCV002018903,2018903,NM_001035.3(RYR2):c.6632A>C (p.Gln2211Pro),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2018903,2018903,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237784233:T:A,RYR2,VCV001997174,1997174,NM_001035.3(RYR2):c.12521T>A (p.Phe4174Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1997174,1997174,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237784034:C:T,RYR2,VCV001932217,1932217,NM_001035.3(RYR2):c.12322C>T (p.His4108Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1932217,1932217,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237445474:C:T,RYR2,VCV001805497,1805497,NM_001035.3(RYR2):c.1244C>T (p.Thr415Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1805497,1805497,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237270587:T:C,RYR2,VCV001805396,1805396,NM_001035.3(RYR2):c.139T>C (p.Cys47Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1805396,1805396,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237832604:C:G,RYR2,VCV001773663,1773663,NM_001035.3(RYR2):c.14861C>G (p.Ala4954Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1773663,1773663,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237377364:C:G,RYR2,VCV001745086,1745086,NM_001035.3(RYR2):c.505C>G (p.Arg169Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1745086,1745086,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237723201:A:ATCCAGAGAAGACGGTAGAAAGAG,RYR2,VCV001710227,1710227,NM_001035.3(RYR2):c.10630_10652dup (p.Val3551_Leu3552insGlnArgArgArgTer),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1710227,1710227,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237798100:A:G,RYR2,VCV001693182,1693182,NM_001035.3(RYR2):c.14020A>G (p.Lys4674Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1693182,1693182,Arrhythmogenic right ventricular cardiomyopathy,Arrhythmogenic right ventricular cardiomyopathy,Arrhythmogenic right ventricular cardiomyopathy,variation_id,,,,locus_or_regional_context,0.25,cardiomyopathy_overlap,assertion_condition_label,1,-0.0,cardiomyopathy_overlap,structural_electrical,0.7,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,False
+1:237830611:C:T,RYR2,VCV001527876,1527876,NM_001035.3(RYR2):c.14737C>T (p.His4913Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1527876,1527876,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237634949:A:T,RYR2,VCV001527868,1527868,NM_001035.3(RYR2):c.6749A>T (p.Asn2250Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1527868,1527868,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237445402:C:A,RYR2,VCV001524904,1524904,NM_001035.3(RYR2):c.1172C>A (p.Ala391Asp),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1524904,1524904,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237633669:A:G,RYR2,VCV001499030,1499030,NM_001035.3(RYR2):c.6647A>G (p.Asp2216Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1499030,1499030,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237757772:A:G,RYR2,VCV001496297,1496297,NM_001035.3(RYR2):c.11321A>G (p.Gln3774Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1496297,1496297,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237806211:C:A,RYR2,VCV001480185,1480185,NM_001035.3(RYR2):c.14226C>A (p.His4742Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1480185,1480185,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237830584:G:A,RYR2,VCV001479669,1479669,NM_001035.3(RYR2):c.14710G>A (p.Gly4904Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1479669,1479669,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237781643:G:C,RYR2,VCV001474443,1474443,NM_001035.3(RYR2):c.11959G>C (p.Glu3987Gln),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1474443,1474443,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237784315:G:T,RYR2,VCV001472640,1472640,NM_001035.3(RYR2):c.12603G>T (p.Gln4201His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1472640,1472640,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237806237:A:T,RYR2,VCV001467901,1467901,NM_001035.3(RYR2):c.14252A>T (p.Lys4751Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1467901,1467901,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237640994:G:A,RYR2,VCV001451617,1451617,NM_001035.3(RYR2):c.7213G>A (p.Glu2405Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1451617,1451617,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237793882:T:C,RYR2,VCV001441921,1441921,NM_001035.3(RYR2):c.13798T>C (p.Phe4600Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1441921,1441921,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237784158:A:G,RYR2,VCV001441891,1441891,NM_001035.3(RYR2):c.12446A>G (p.Tyr4149Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1441891,1441891,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237784176:C:A,RYR2,VCV001410932,1410932,NM_001035.3(RYR2):c.12464C>A (p.Ser4155Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1410932,1410932,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237638464:C:G,RYR2,VCV001384586,1384586,NM_001035.3(RYR2):c.6900C>G (p.Asp2300Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1384586,1384586,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237649944:T:G,RYR2,VCV001383749,1383749,NM_001035.3(RYR2):c.7580T>G (p.Leu2527Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1383749,1383749,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237793920:T:G,RYR2,VCV001363823,1363823,NM_001035.3(RYR2):c.13836T>G (p.Phe4612Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1363823,1363823,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237760996:A:G,RYR2,VCV001346560,1346560,NM_001035.3(RYR2):c.11444A>G (p.Glu3815Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1346560,1346560,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237441339:GAGAAA:G,RYR2,VCV001342890,1342890,NM_001035.3(RYR2):c.1031_1035del (p.Lys344fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1342890,1342890,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237469125:C:T,RYR2,VCV001330215,1330215,NM_001035.3(RYR2):c.1646C>T (p.Ala549Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1330215,1330215,Arrhythmogenic right ventricular dysplasia 2;Catecholaminergic polymorphic ventricular tachycardia 1,Arrhythmogenic right ventricular dysplasia 2;Catecholaminergic polymorphic ventricular tachycardia 1,Arrhythmogenic right ventricular dysplasia 2;Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia|cardiomyopathy_overlap,assertion_condition_label,3,1.584962500721156,CPVT,structural_electrical,0.7,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237772037:G:C,RYR2,VCV001213111,1213111,NM_001035.3(RYR2):c.11583G>C (p.Gln3861His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1213111,1213111,,,,unmatched,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237784299:C:T,RYR2,VCV001119951,1119951,NM_001035.3(RYR2):c.12587C>T (p.Thr4196Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1119951,1119951,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237783695:A:C,RYR2,VCV001119950,1119950,NM_001035.3(RYR2):c.11983A>C (p.Ile3995Leu),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1119950,1119950,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,False
+1:237377373:G:A,RYR2,VCV001072928,1072928,NM_001035.3(RYR2):c.514G>A (p.Gly172Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1072928,1072928,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237648522:G:A,RYR2,VCV001072597,1072597,NM_001035.3(RYR2):c.7421G>A (p.Arg2474Lys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1072597,1072597,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237783981:C:T,RYR2,VCV001070571,1070571,NM_001035.3(RYR2):c.12269C>T (p.Pro4090Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1070571,1070571,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237639019:G:C,RYR2,VCV001069130,1069130,NM_001035.3(RYR2):c.6933G>C (p.Glu2311Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1069130,1069130,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237806159:A:G,RYR2,VCV001067931,1067931,NM_001035.3(RYR2):c.14174A>G (p.Tyr4725Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1067931,1067931,Catecholaminergic polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237377396:T:A,RYR2,VCV001067138,1067138,NM_001035.3(RYR2):c.537T>A (p.Asp179Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1067138,1067138,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237806219:A:G,RYR2,VCV001066599,1066599,NM_001035.3(RYR2):c.14234A>G (p.Asp4745Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1066599,1066599,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237631490:C:A,RYR2,VCV001051501,1051501,NM_001035.3(RYR2):c.6504C>A (p.His2168Gln),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1051501,1051501,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237828441:T:TTCC,RYR2,VCV001013805,1013805,NM_001035.3(RYR2):c.14651_14652insTCC (p.Met4884delinsIlePro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1013805,1013805,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237784055:C:T,RYR2,VCV001007679,1007679,NM_001035.3(RYR2):c.12343C>T (p.Leu4115Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1007679,1007679,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237674163:A:AG,RYR2,VCV000982634,982634,NM_001035.3(RYR2):c.8659dup (p.Glu2887fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,982634,982634,Arrhythmogenic right ventricular dysplasia 2,Arrhythmogenic right ventricular dysplasia 2,Arrhythmogenic right ventricular dysplasia 2,variation_id,,,,locus_or_regional_context,0.25,cardiomyopathy_overlap,assertion_condition_label,1,-0.0,cardiomyopathy_overlap,structural_electrical,0.7,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,False
+1:237445474:C:A,RYR2,VCV000979205,979205,NM_001035.3(RYR2):c.1244C>A (p.Thr415Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,979205,979205,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237784211:G:A,RYR2,VCV000979204,979204,NM_001035.3(RYR2):c.12499G>A (p.Glu4167Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,979204,979204,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237707216:T:A,RYR2,VCV000978366,978366,NM_001035.3(RYR2):c.9848T>A (p.Ile3283Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,978366,978366,Conduction disorder of the heart,Conduction disorder of the heart,Conduction disorder of the heart,variation_id,,,,locus_or_regional_context,0.25,conduction,assertion_condition_label,1,-0.0,conduction,intermittent,0.55,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,False
+1:237633671:C:T,RYR2,VCV000957942,957942,NM_001035.3(RYR2):c.6649C>T (p.His2217Tyr),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,957942,957942,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237633708:T:C,RYR2,VCV000954202,954202,NM_001035.3(RYR2):c.6686T>C (p.Leu2229Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,954202,954202,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237492996:G:A,RYR2,VCV000947851,947851,NM_001035.3(RYR2):c.1870G>A (p.Ala624Thr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,947851,947851,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237388087:G:A,RYR2,VCV000947702,947702,NM_001035.3(RYR2):c.677G>A (p.Gly226Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,947702,947702,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237759848:T:C,RYR2,VCV000940323,940323,NM_001035.3(RYR2):c.11398T>C (p.Cys3800Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,940323,940323,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237759824:AGCCTGGCCG:A,RYR2,VCV000933804,933804,NM_001035.3(RYR2):c.11380_11388del (p.Ala3794_Leu3796del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,933804,933804,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237709543:G:GT,RYR2,VCV000931781,931781,NM_001035.3(RYR2):c.10209dup (p.Ile3404fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,931781,931781,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237648558:ATCTTCTTGAGGT:A,RYR2,VCV000915531,915531,NM_001035.3(RYR2):c.7459_7470del (p.Leu2487_Val2490del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,915531,915531,Cardiomyopathy,Cardiomyopathy,Cardiomyopathy,variation_id,,,,locus_or_regional_context,0.25,cardiomyopathy_overlap,assertion_condition_label,1,-0.0,cardiomyopathy_overlap,structural_electrical,0.7,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,False
+1:237270563:G:GCAGAAGGATTTGGCAA,RYR2,VCV000870975,870975,NM_001035.3(RYR2):c.120_135dup (p.Leu46fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,870975,870975,,,,unmatched,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237831526:G:T,RYR2,VCV000869428,869428,NM_001035.3(RYR2):c.14769G>T (p.Met4923Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,869428,869428,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237648525:T:C,RYR2,VCV000861770,861770,NM_001035.3(RYR2):c.7424T>C (p.Val2475Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,861770,861770,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237639068:C:G,RYR2,VCV000840374,840374,NM_001035.3(RYR2):c.6982C>G (p.Pro2328Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,840374,840374,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237798158:CCTT:C,RYR2,VCV000692253,692253,NM_001035.3(RYR2):c.14079_14081del (p.Leu4694del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,692253,692253,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237784301:A:C,RYR2,VCV000665174,665174,NM_001035.3(RYR2):c.12589A>C (p.Ile4197Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,665174,665174,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237784290:G:A,RYR2,VCV000656745,656745,NM_001035.3(RYR2):c.12578G>A (p.Cys4193Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,656745,656745,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237423097:G:T,RYR2,VCV000654791,654791,NM_001035.3(RYR2):c.854G>T (p.Ser285Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,654791,654791,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237778755:G:C,RYR2,VCV000654125,654125,NM_001035.3(RYR2):c.11865G>C (p.Gln3955His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,654125,654125,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237830557:A:C,RYR2,VCV000651491,651491,NM_001035.3(RYR2):c.14683A>C (p.Asn4895His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,651491,651491,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237643361:T:G,RYR2,VCV000649923,649923,NM_001035.3(RYR2):c.7256T>G (p.Ile2419Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,649923,649923,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237778727:G:A,RYR2,VCV000644207,644207,NM_001035.3(RYR2):c.11837G>A (p.Gly3946Asp),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,644207,644207,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237778678:G:C,RYR2,VCV000637985,637985,NM_001035.3(RYR2):c.11788G>C (p.Gly3930Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,637985,637985,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237784280:G:A,RYR2,VCV000580536,580536,NM_001035.3(RYR2):c.12568G>A (p.Val4190Met),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,580536,580536,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237784189:G:T,RYR2,VCV000578246,578246,NM_001035.3(RYR2):c.12477G>T (p.Gln4159His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,578246,578246,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237792319:T:C,RYR2,VCV000575682,575682,NM_001035.3(RYR2):c.13778T>C (p.Leu4593Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,575682,575682,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237778753:C:G,RYR2,VCV000575059,575059,NM_001035.3(RYR2):c.11863C>G (p.Gln3955Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,575059,575059,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237633668:G:C,RYR2,VCV000571532,571532,NM_001035.3(RYR2):c.6646G>C (p.Asp2216His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,571532,571532,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237784251:G:T,RYR2,VCV000570194,570194,NM_001035.3(RYR2):c.12539G>T (p.Gly4180Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,570194,570194,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237791480:G:C,RYR2,VCV000568135,568135,NM_001035.3(RYR2):c.13528G>C (p.Ala4510Pro),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,568135,568135,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237819188:A:G,RYR2,VCV000566084,566084,NM_001035.3(RYR2):c.14586A>G (p.Ile4862Met),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,566084,566084,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237784261:AGAG:A,RYR2,VCV000560709,560709,NM_001035.3(RYR2):c.12550_12552del (p.Glu4184del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,560709,560709,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237628052:G:A,RYR2,VCV000532366,532366,NM_001035.3(RYR2):c.6412G>A (p.Glu2138Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,532366,532366,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237819187:T:C,RYR2,VCV000532324,532324,NM_001035.3(RYR2):c.14585T>C (p.Ile4862Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,532324,532324,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237441320:A:G,RYR2,VCV000520467,520467,NM_001035.3(RYR2):c.1007A>G (p.Glu336Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,520467,520467,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237639110:G:A,RYR2,VCV000519356,519356,NM_001035.3(RYR2):c.7024G>A (p.Gly2342Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519356,519356,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237639095:G:C,RYR2,VCV000463624,463624,NM_001035.3(RYR2):c.7009G>C (p.Gly2337Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463624,463624,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237377426:A:T,RYR2,VCV000463608,463608,NM_001035.3(RYR2):c.567A>T (p.Glu189Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463608,463608,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237377374:G:A,RYR2,VCV000463605,463605,NM_001035.3(RYR2):c.515G>A (p.Gly172Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463605,463605,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237819192:G:T,RYR2,VCV000463579,463579,NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463579,463579,Catecholaminergic polymorphic ventricular tachycardia 1|Squamous cell lung carcinoma,Catecholaminergic polymorphic ventricular tachycardia 1|Squamous cell lung carcinoma,Catecholaminergic polymorphic ventricular tachycardia 1|Squamous cell lung carcinoma,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237806236:A:G,RYR2,VCV000463577,463577,NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463577,463577,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237445428:G:A,RYR2,VCV000463549,463549,NM_001035.3(RYR2):c.1198G>A (p.Asp400Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463549,463549,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237808943:T:C,RYR2,VCV000452065,452065,NM_001035.3(RYR2):c.14341T>C (p.Tyr4781His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,452065,452065,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237639026:GAG:AAA,RYR2,VCV000450836,450836,NM_001035.3(RYR2):c.6940_6942delinsAAA (p.Glu2314Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,MNV_or_substitution,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,450836,450836,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237832607:G:A,RYR2,VCV000449306,449306,NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,449306,449306,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237783708:T:C,RYR2,VCV000427948,427948,NM_001035.3(RYR2):c.11996T>C (p.Met3999Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,427948,427948,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237377361:C:G,RYR2,VCV000427184,427184,NM_001035.3(RYR2):c.502C>G (p.Gln168Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,427184,427184,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237781598:A:G,RYR2,VCV000427164,427164,NM_001035.3(RYR2):c.11914A>G (p.Met3972Val),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,427164,427164,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237828390:T:C,RYR2,VCV000423597,423597,NM_001035.3(RYR2):c.14600T>C (p.Ile4867Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,423597,423597,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237784281:T:G,RYR2,VCV000420865,420865,NM_001035.3(RYR2):c.12569T>G (p.Val4190Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,420865,420865,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237783714:A:G,RYR2,VCV000418465,418465,NM_001035.3(RYR2):c.12002A>G (p.Asp4001Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418465,418465,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237638450:G:A,RYR2,VCV000404218,404218,NM_001035.3(RYR2):c.6886G>A (p.Glu2296Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,404218,404218,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237756342:C:T,RYR2,VCV000404208,404208,NM_001035.3(RYR2):c.11200C>T (p.Arg3734Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,404208,404208,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True
+1:237832592:A:G,RYR2,VCV000372588,372588,NM_001035.3(RYR2):c.14849A>G (p.Glu4950Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,372588,372588,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:237377365:G:T,RYR2,VCV000372582,372582,NM_001035.3(RYR2):c.506G>T (p.Arg169Leu),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,372582,372582,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True
+1:115702981:C:T,CASQ2,VCV004798117,4798117,NM_001232.4(CASQ2):c.954G>A (p.Trp318Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4798117,4798117,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115740766:C:A,CASQ2,VCV004281696,4281696,NM_001232.4(CASQ2):c.382G>T (p.Glu128Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4281696,4281696,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115732899:AC:A,CASQ2,VCV004219483,4219483,NM_001232.4(CASQ2):c.606+1del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4219483,4219483,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
+1:115705283:TCGTAG:T,CASQ2,VCV003722584,3722584,NM_001232.4(CASQ2):c.843_847del (p.Tyr282fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3722584,3722584,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115768370:C:A,CASQ2,VCV003722580,3722580,NM_001232.4(CASQ2):c.172G>T (p.Glu58Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3722580,3722580,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115768496:AG:A,CASQ2,VCV003688556,3688556,NM_001232.4(CASQ2):c.45del (p.Ser16fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3688556,3688556,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115738337:T:A,CASQ2,VCV003676998,3676998,NM_001232.4(CASQ2):c.421-2A>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3676998,3676998,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115732915:TG:T,CASQ2,VCV003638681,3638681,NM_001232.4(CASQ2):c.591del (p.Thr198fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3638681,3638681,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115732924:AT:A,CASQ2,VCV003623127,3623127,NM_001232.4(CASQ2):c.582del (p.Lys194fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3623127,3623127,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115768540:A:T,CASQ2,VCV003575736,3575736,NM_001232.4(CASQ2):c.2T>A (p.Met1Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3575736,3575736,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115768531:GTT:G,CASQ2,VCV003575685,3575685,NM_001232.4(CASQ2):c.9_10del (p.Arg3fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3575685,3575685,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115732899:A:T,CASQ2,VCV003575384,3575384,NM_001232.4(CASQ2):c.606+2T>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3575384,3575384,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115701253:ATCGTCATCACTGT:A,CASQ2,VCV003338342,3338342,NM_001232.4(CASQ2):c.1175_1187del (p.Asp392fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3338342,3338342,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115732976:T:C,CASQ2,VCV003263466,3263466,NM_001232.4(CASQ2):c.533-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3263466,3263466,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115725509:CA:C,CASQ2,VCV002822271,2822271,NM_001232.4(CASQ2):c.781del (p.Trp261fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2822271,2822271,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115768337:G:A,CASQ2,VCV002806492,2806492,NM_001232.4(CASQ2):c.205C>T (p.Gln69Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2806492,2806492,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115725536:AG:A,CASQ2,VCV002770074,2770074,NM_001232.4(CASQ2):c.754del (p.Leu252fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2770074,2770074,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115740732:AAG:A,CASQ2,VCV002744443,2744443,NM_001232.4(CASQ2):c.414_415del (p.Leu139fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2744443,2744443,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115701359:C:T,CASQ2,VCV002717451,2717451,NM_001232.4(CASQ2):c.1082G>A (p.Trp361Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2717451,2717451,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115768510:AT:A,CASQ2,VCV002704628,2704628,NM_001232.4(CASQ2):c.31del (p.Ile11fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2704628,2704628,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115744878:C:CTA,CASQ2,VCV002506578,2506578,NM_001232.4(CASQ2):c.268_269insTA (p.Gly90fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2506578,2506578,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115727123:C:T,CASQ2,VCV002438853,2438853,NM_001232.4(CASQ2):c.607-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2438853,2438853,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115744826:A:C,CASQ2,VCV002089290,2089290,NM_001232.4(CASQ2):c.319+2T>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2089290,2089290,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115744885:C:CT,CASQ2,VCV001793918,1793918,NM_001232.4(CASQ2):c.261dup (p.Ala88fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5125,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1793918,1793918,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115744827:C:T,CASQ2,VCV001324014,1324014,NM_001232.4(CASQ2):c.319+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1324014,1324014,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+1:115768540:A:G,CASQ2,VCV000452250,452250,NM_001232.4(CASQ2):c.2T>C (p.Met1Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,452250,452250,Wolff-Parkinson-White pattern|Catecholaminergic polymorphic ventricular tachycardia 1,Wolff-Parkinson-White pattern|Catecholaminergic polymorphic ventricular tachycardia 1,Wolff-Parkinson-White pattern|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+6:123548549:G:GT,TRDN,VCV004782180,4782180,NM_006073.4(TRDN):c.295dup (p.Thr99fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4782180,4782180,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+6:123503717:A:G,TRDN,VCV004714700,4714700,NM_006073.4(TRDN):c.793+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4714700,4714700,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+6:123516169:TA:T,TRDN,VCV004712099,4712099,NM_006073.4(TRDN):c.521del (p.Val174fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4712099,4712099,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+6:123337646:T:A,TRDN,VCV004077705,4077705,NM_006073.4(TRDN):c.1393A>T (p.Lys465Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4077705,4077705,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+6:123516208:T:A,TRDN,VCV003721374,3721374,NM_006073.4(TRDN):c.485-2A>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3721374,3721374,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+6:123571134:T:C,TRDN,VCV003669900,3669900,NM_006073.4(TRDN):c.23-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3669900,3669900,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+6:123548461:AG:A,TRDN,VCV003593000,3593000,NM_006073.4(TRDN):c.383del (p.Thr128fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3593000,3593000,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+6:123503894:CTTCTG:C,TRDN,VCV002920531,2920531,NC_000006.12:g.123503896TCTGT[1],Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,2920531,2920531,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,unanchored,0.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+6:123548510:TC:T,TRDN,VCV002818604,2818604,NM_006073.4(TRDN):c.334del (p.Asp112fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2818604,2818604,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+6:123503902:C:T,TRDN,VCV002730579,2730579,NM_006073.4(TRDN):c.611-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,2730579,2730579,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,unanchored,0.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+6:123548518:CA:C,TRDN,VCV002634568,2634568,NM_006073.4(TRDN):c.326del (p.Leu109fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2634568,2634568,TRDN-related disorder|Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,TRDN-related disorder|Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,TRDN-related disorder|Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+6:123530539:G:A,TRDN,VCV002018973,2018973,NM_006073.4(TRDN):c.451C>T (p.Gln151Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2018973,2018973,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+6:123636774:A:G,TRDN,VCV001798674,1798674,NM_006073.4(TRDN):c.2T>C (p.Met1Thr),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1798674,1798674,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+6:123548553:C:TT,TRDN,VCV001797791,1797791,NM_006073.4(TRDN):c.292delinsAA (p.Glu98fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1797791,1797791,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True
+6:123516157:TTC:T,TRDN,VCV001746830,1746830,NM_006073.4(TRDN):c.532_533del (p.Glu178fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1746830,1746830,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+6:123516183:C:A,TRDN,VCV001708485,1708485,NM_006073.4(TRDN):c.508G>T (p.Gly170Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1708485,1708485,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+6:123571063:AC:A,TRDN,VCV001458047,1458047,NM_006073.4(TRDN):c.91del (p.Val31fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1458047,1458047,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+6:123570921:A:T,TRDN,VCV000463677,463677,NM_006073.4(TRDN):c.232+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,463677,463677,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+6:123570988:A:G,TRDN,VCV000408740,408740,NM_006073.4(TRDN):c.167T>C (p.Leu56Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,408740,408740,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+6:123503893:TC:T,TRDN,VCV000408737,408737,NM_006073.4(TRDN):c.618del (p.Ala208fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,408737,408737,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True
+14:90404482:A:T,CALM1,VCV004787824,4787824,NM_006888.6(CALM1):c.389A>T (p.Asp130Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4787824,4787824,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,variation_id,,,,locus_or_regional_context,0.25,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+14:90403953:C:G,CALM1,VCV004785412,4785412,NM_006888.6(CALM1):c.270C>G (p.Phe90Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4785412,4785412,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,variation_id,,,,representation_repairable,0.45,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+14:90404491:G:T,CALM1,VCV003338336,3338336,NM_006888.6(CALM1):c.398G>T (p.Gly133Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3338336,3338336,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+14:90404379:G:T,CALM1,VCV002100843,2100843,NM_006888.6(CALM1):c.286G>T (p.Asp96Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2100843,2100843,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,variation_id,,,,locus_or_regional_context,0.25,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+14:90404488:A:G,CALM1,VCV001362982,1362982,NM_006888.6(CALM1):c.395A>G (p.Asp132Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1362982,1362982,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,variation_id,,,,locus_or_regional_context,0.25,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+14:90404689:A:T,CALM1,VCV000974613,974613,NM_006888.6(CALM1):c.422A>T (p.Glu141Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,974613,974613,Long QT syndrome 14,Long QT syndrome 14,Long QT syndrome 14,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+14:90404689:A:G,CALM1,VCV000974612,974612,NM_006888.6(CALM1):c.422A>G (p.Glu141Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,974612,974612,Long QT syndrome 14,Long QT syndrome 14,Long QT syndrome 14,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+14:90404693:C:A,CALM1,VCV000961658,961658,NM_006888.6(CALM1):c.426C>A (p.Phe142Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,961658,961658,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,variation_id,,,,representation_repairable,0.45,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+14:90404488:A:T,CALM1,VCV000948239,948239,NM_006888.6(CALM1):c.395A>T (p.Asp132Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,948239,948239,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,variation_id,,,,locus_or_regional_context,0.25,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+14:90404487:G:A,CALM1,VCV000639902,639902,NM_006888.6(CALM1):c.394G>A (p.Asp132Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,639902,639902,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,variation_id,,,,locus_or_regional_context,0.25,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+14:90404491:G:A,CALM1,VCV000542137,542137,NM_006888.6(CALM1):c.398G>A (p.Gly133Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,542137,542137,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,variation_id,,,,locus_or_regional_context,0.25,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+14:90404691:T:C,CALM1,VCV000426161,426161,NM_006888.6(CALM1):c.424T>C (p.Phe142Leu),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,426161,426161,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4|Cardiovascular phenotype,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4|Cardiovascular phenotype,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+14:90404512:A:T,CALM1,VCV000418107,418107,NM_006888.6(CALM1):c.419A>T (p.Glu140Val),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418107,418107,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+14:90404406:G:A,CALM1,VCV000388500,388500,NM_006888.6(CALM1):c.313G>A (p.Glu105Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,388500,388500,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+14:90401312:A:C,CALM1,VCV000384090,384090,NM_006888.6(CALM1):c.88A>C (p.Thr30Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,384090,384090,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+2:47162303:A:G,CALM2,VCV002734184,2734184,NM_001743.6(CALM2):c.268T>C (p.Phe90Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2734184,2734184,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+2:47161831:C:G,CALM2,VCV002500174,2500174,NM_001743.6(CALM2):c.313G>C (p.Glu105Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2500174,2500174,Long QT syndrome 15,Long QT syndrome 15,Long QT syndrome 15,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+2:47161750:C:A,CALM2,VCV001456260,1456260,NM_001743.6(CALM2):c.394G>T (p.Asp132Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1456260,1456260,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+2:47161756:C:T,CALM2,VCV001398892,1398892,NM_001743.6(CALM2):c.388G>A (p.Asp130Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1398892,1398892,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+2:47161804:C:T,CALM2,VCV001327459,1327459,NM_001743.6(CALM2):c.340G>A (p.Gly114Arg),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1327459,1327459,SUDDEN INFANT DEATH SYNDROME,SUDDEN INFANT DEATH SYNDROME,SUDDEN INFANT DEATH SYNDROME,variation_id,,,,locus_or_regional_context,0.25,SADS,assertion_condition_label,1,-0.0,SADS,SADS_genotype_first,0.35,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+2:47161747:C:T,CALM2,VCV001067140,1067140,NM_001743.6(CALM2):c.397G>A (p.Gly133Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1067140,1067140,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+2:47161749:T:C,CALM2,VCV000955533,955533,NM_001743.6(CALM2):c.395A>G (p.Asp132Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,955533,955533,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+2:47161755:T:C,CALM2,VCV000812710,812710,NM_001743.6(CALM2):c.389A>G (p.Asp130Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,812710,812710,Long QT syndrome 15|Long QT syndrome 1,Long QT syndrome 15|Long QT syndrome 1,Long QT syndrome 15|Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+2:47161858:C:A,CALM2,VCV000641544,641544,NM_001743.6(CALM2):c.286G>T (p.Asp96Tyr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,641544,641544,Long QT syndrome 1|Long QT syndrome 15,Long QT syndrome 1|Long QT syndrome 15,Long QT syndrome 1|Long QT syndrome 15,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+2:47160792:A:C,CALM2,VCV000576319,576319,NM_001743.6(CALM2):c.434T>G (p.Met145Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,576319,576319,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+2:47161730:G:C,CALM2,VCV000488476,488476,NM_001743.6(CALM2):c.414C>G (p.Asn138Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,488476,488476,Long QT syndrome 15,Long QT syndrome 15,Long QT syndrome 15,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+2:47161744:C:T,CALM2,VCV000448971,448971,NM_001743.6(CALM2):c.400G>A (p.Asp134Asn),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,448971,448971,Long QT syndrome 15|Long QT syndrome 1,Long QT syndrome 15|Long QT syndrome 1,Long QT syndrome 15|Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+19:46609129:T:G,CALM3,VCV002138308,2138308,NM_005184.4(CALM3):c.426T>G (p.Phe142Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2138308,2138308,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,strong,0.85,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+19:46608950:C:G,CALM3,VCV001358003,1358003,NM_005184.4(CALM3):c.390C>G (p.Asp130Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1358003,1358003,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,strong,0.85,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+19:46608981:G:A,CALM3,VCV000812678,812678,NM_005184.4(CALM3):c.421G>A (p.Glu141Lys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,812678,812678,Long QT syndrome 16|Long QT syndrome 1,Long QT syndrome 16|Long QT syndrome 1,Long QT syndrome 16|Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,strong,0.85,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+19:46608949:A:G,CALM3,VCV000812676,812676,NM_005184.4(CALM3):c.389A>G (p.Asp130Gly),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,812676,812676,Long QT syndrome 16,Long QT syndrome 16,Long QT syndrome 16,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,strong,0.85,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+19:46609125:A:G,CALM3,VCV000458198,458198,NM_005184.4(CALM3):c.422A>G (p.Glu141Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,458198,458198,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,strong,0.85,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+19:46608584:A:C,CALM3,VCV000409871,409871,NM_005184.4(CALM3):c.281A>C (p.Asp94Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,409871,409871,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,strong,0.85,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+19:46608846:G:C,CALM3,VCV000409870,409870,NM_005184.4(CALM3):c.286G>C (p.Asp96His),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,409870,409870,Long QT syndrome 1|Long QT syndrome 16,Long QT syndrome 1|Long QT syndrome 16,Long QT syndrome 1|Long QT syndrome 16,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,strong,0.85,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+19:46608955:A:G,CALM3,VCV000389576,389576,NM_005184.4(CALM3):c.395A>G (p.Asp132Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,389576,389576,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,strong,0.85,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True
+4:113332071:G:A,ANK2,VCV004796659,4796659,NM_001148.6(ANK2):c.3224+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4796659,4796659,,,,unmatched,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113343099:G:GT,ANK2,VCV004732021,4732021,NM_001148.6(ANK2):c.4212dup (p.Ala1405fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,4732021,4732021,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,unanchored,0.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113359191:G:T,ANK2,VCV004725226,4725226,NM_001148.6(ANK2):c.10573G>T (p.Glu3525Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4725226,4725226,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113357844:C:T,ANK2,VCV004721538,4721538,NM_001148.6(ANK2):c.9226C>T (p.Gln3076Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4721538,4721538,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113333098:AG:A,ANK2,VCV004708265,4708265,NM_001148.6(ANK2):c.3271del (p.Glu1091fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4708265,4708265,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113354062:CAG:C,ANK2,VCV004683080,4683080,NM_001148.6(ANK2):c.5450_5451del (p.Arg1817fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4683080,4683080,ANK2-associated seizure disorder,ANK2-associated seizure disorder,ANK2-associated seizure disorder,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113357838:C:T,ANK2,VCV004613600,4613600,NM_001148.6(ANK2):c.9220C>T (p.Gln3074Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4613600,4613600,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113357853:AC:A,ANK2,VCV004613598,4613598,NM_001148.6(ANK2):c.9239del (p.Pro3080fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4613598,4613598,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113348282:G:T,ANK2,VCV004531921,4531921,NM_001148.6(ANK2):c.4378G>T (p.Glu1460Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4531921,4531921,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113346023:G:A,ANK2,VCV004293673,4293673,NM_001148.6(ANK2):c.4371+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4293673,4293673,ANK2-related disorder,ANK2-related disorder,ANK2-related disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113356654:C:G,ANK2,VCV004292238,4292238,NM_001148.6(ANK2):c.8036C>G (p.Ser2679Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4292238,4292238,ANK-related Autism spectrum disorder and epilepsy,ANK-related Autism spectrum disorder and epilepsy,ANK-related Autism spectrum disorder and epilepsy,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113358882:G:T,ANK2,VCV004097147,4097147,NM_001148.6(ANK2):c.10264G>T (p.Glu3422Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4097147,4097147,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113357955:C:T,ANK2,VCV004097146,4097146,NM_001148.6(ANK2):c.9337C>T (p.Arg3113Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4097146,4097146,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113287648:T:G,ANK2,VCV004088107,4088107,NM_001148.6(ANK2):c.2123T>G (p.Val708Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4088107,4088107,,,,unmatched,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113355367:C:T,ANK2,VCV004075802,4075802,NM_001148.6(ANK2):c.6749C>T (p.Ser2250Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4075802,4075802,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113353201:AG:A,ANK2,VCV004075490,4075490,NM_001148.6(ANK2):c.4585del (p.Ala1529fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4075490,4075490,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113360821:A:G,ANK2,VCV004071961,4071961,NM_001148.6(ANK2):c.10682-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4071961,4071961,ANK2-associated disorder,ANK2-associated disorder,ANK2-associated disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113346022:G:A,ANK2,VCV004071958,4071958,NM_001148.6(ANK2):c.4371G>A (p.Lys1457=),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4071958,4071958,ANK2-associated disorder,ANK2-associated disorder,ANK2-associated disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113353828:T:A,ANK2,VCV004051668,4051668,NM_001148.6(ANK2):c.5210T>A (p.Leu1737Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4051668,4051668,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113317810:G:A,ANK2,VCV003898990,3898990,NM_001148.6(ANK2):c.2796+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3898990,3898990,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113353508:GAA:G,ANK2,VCV003897593,3897593,NM_001148.6(ANK2):c.4892_4893del (p.Lys1631fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3897593,3897593,"Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related",variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113335941:C:T,ANK2,VCV003772520,3772520,NM_001148.6(ANK2):c.3475C>T (p.Gln1159Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3772520,3772520,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113357857:CT:C,ANK2,VCV003729667,3729667,NM_001148.6(ANK2):c.9240del (p.Asp3081fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3729667,3729667,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113357939:AT:A,ANK2,VCV003654249,3654249,NM_001148.6(ANK2):c.9323del (p.Leu3108fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3654249,3654249,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113317795:AT:A,ANK2,VCV003632705,3632705,NM_001148.6(ANK2):c.2784del (p.Ser930fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3632705,3632705,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113353367:TGA:T,ANK2,VCV003540989,3540989,NM_001148.6(ANK2):c.4755_4756del (p.Gly1586fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,3540989,3540989,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,unanchored,0.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113330274:C:T,ANK2,VCV003540979,3540979,NM_001148.6(ANK2):c.2929C>T (p.Arg977Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3540979,3540979,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113335878:C:T,ANK2,VCV003390615,3390615,NM_001148.6(ANK2):c.3412C>T (p.Arg1138Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3390615,3390615,,,,unmatched,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113049789:CAG:C,ANK2,VCV003383192,3383192,NM_001148.6(ANK2):c.64_65del (p.Arg22fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3383192,3383192,"Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related",variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113358927:ATACT:A,ANK2,VCV003377103,3377103,NM_001148.6(ANK2):c.10313_10316del (p.Leu3438fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3377103,3377103,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113358157:ACTTACT:TGGATGATGAG,ANK2,VCV003376714,3376714,NM_001148.6(ANK2):c.9539_9545delinsTGGATGATGAG (p.Asp3180fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3376714,3376714,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113354861:T:TG,ANK2,VCV003376713,3376713,NM_001148.6(ANK2):c.6245dup (p.Gly2083fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3376713,3376713,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113354249:ACACT:A,ANK2,VCV003376711,3376711,NM_001148.6(ANK2):c.5635_5638del (p.Ser1879fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3376711,3376711,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113365182:G:A,ANK2,VCV003365181,3365181,NM_001148.6(ANK2):c.11032G>A (p.Gly3678Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3365181,3365181,,,,unmatched,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113354341:GC:G,ANK2,VCV003344952,3344952,NM_001148.6(ANK2):c.5724del (p.Thr1910fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3344952,3344952,ANK2-related disorder,ANK2-related disorder,ANK2-related disorder,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113343143:G:T,ANK2,VCV003340753,3340753,NM_001148.6(ANK2):c.4248+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3340753,3340753,,,,unmatched,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113360880:T:C,ANK2,VCV003338731,3338731,NM_001148.6(ANK2):c.10739T>C (p.Leu3580Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3338731,3338731,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113302840:G:A,ANK2,VCV003337796,3337796,NM_001148.6(ANK2):c.2548+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3337796,3337796,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113357732:TG:T,ANK2,VCV003119609,3119609,NM_001148.6(ANK2):c.9115del (p.Asp3039fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3119609,3119609,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113363349:G:T,ANK2,VCV003068471,3068471,NM_001148.6(ANK2):c.10768G>T (p.Glu3590Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3068471,3068471,ANK2-associated Neurodevelopmental Disorder,ANK2-associated Neurodevelopmental Disorder,ANK2-associated Neurodevelopmental Disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113354752:CAG:C,ANK2,VCV003030812,3030812,NM_001148.6(ANK2):c.6138_6139del (p.Asn2047fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3030812,3030812,ANK2-related disorder,ANK2-related disorder,ANK2-related disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113357778:GC:G,ANK2,VCV002861152,2861152,NM_001148.6(ANK2):c.9162del (p.Phe3055fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2861152,2861152,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113343096:TC:T,ANK2,VCV002672177,2672177,NM_001148.6(ANK2):c.4203del (p.Phe1401fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2672177,2672177,Complex neurodevelopmental disorder,Complex neurodevelopmental disorder,Complex neurodevelopmental disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113332043:T:TG,ANK2,VCV002576797,2576797,NM_001148.6(ANK2):c.3201dup (p.Pro1068fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2576797,2576797,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113330297:CAG:C,ANK2,VCV002575852,2575852,NM_001148.6(ANK2):c.2954_2955del (p.Arg985fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575852,2575852,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113373350:GC:TT,ANK2,VCV002565317,2565317,NM_001148.6(ANK2):c.11760_11761delinsTT (p.Gln3921Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2565317,2565317,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113292416:AACGGCTAC:A,ANK2,VCV002544521,2544521,NM_001148.6(ANK2):c.2282_2289del (p.Gly761fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2544521,2544521,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113255780:G:T,ANK2,VCV002506786,2506786,NM_001148.6(ANK2):c.1036G>T (p.Glu346Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2506786,2506786,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113355370:CAAAGA:C,ANK2,VCV002499788,2499788,NM_001148.6(ANK2):c.6757_6761del (p.Lys2252_Lys2253insTer),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2499788,2499788,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113357802:G:T,ANK2,VCV002430081,2430081,NM_001148.6(ANK2):c.9184G>T (p.Glu3062Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2430081,2430081,Autism spectrum disorder,Autism spectrum disorder,Autism spectrum disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113369632:C:T,ANK2,VCV002228433,2228433,NM_001148.6(ANK2):c.11437C>T (p.Gln3813Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2228433,2228433,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113174449:AGAGCAGGCAACCTGGACAAAGTTGTGGAATATCTGAAGGGGGGCATAGACATCAATACCTGCAATCAGGTAAGAACATGGCAGCTAGCTCTGTGTTGTGCAACGAAGGAACACTCATTACATTCTCAGAGCCCAAGATTATTTTTGTCTTTATTAAAAATACTAAAATATCAGTGACTCAGACTTCTGAAATCCCATTTTTTGCCCCCTTACCAACTTTTCAAGTATCAGATGTTTGTATCTA:GAGCTAATGTTGCTGAAAAATTAGCTCC,ANK2,VCV002121821,2121821,NM_001148.6(ANK2):c.118_186+175delinsGAGCTAATGTTGCTGAAAAATTAGCTCC,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2121821,2121821,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113358433:AT:A,ANK2,VCV002029441,2029441,NM_001148.6(ANK2):c.9817del (p.Ser3273fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2029441,2029441,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113333109:C:CT,ANK2,VCV001729746,1729746,NM_001148.6(ANK2):c.3281dup (p.Val1095fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1729746,1729746,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113242117:A:C,ANK2,VCV001695772,1695772,NM_001148.6(ANK2):c.799A>C (p.Ile267Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1695772,1695772,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113117420:T:C,ANK2,VCV001678114,1678114,NM_001148.6(ANK2):c.85-56996T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1678114,1678114,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113311281:G:T,ANK2,VCV001678112,1678112,NM_001148.6(ANK2):c.2575G>T (p.Gly859Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1678112,1678112,,,,unmatched,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113359094:G:GAC,ANK2,VCV001483377,1483377,NM_001148.6(ANK2):c.10480_10481dup (p.Gln3494fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1483377,1483377,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113311368:C:T,ANK2,VCV001334346,1334346,NM_001148.6(ANK2):c.2662C>T (p.Arg888Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1334346,1334346,,,,unmatched,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113353994:AGG:A,ANK2,VCV001317290,1317290,NM_001148.6(ANK2):c.5377_5378del (p.Gly1793fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1317290,1317290,,,,unmatched,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113330364:C:T,ANK2,VCV000985758,985758,NM_001148.6(ANK2):c.3019C>T (p.Arg1007Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,985758,985758,"Inborn genetic diseases|Cardiac arrhythmia, ankyrin-B-related","Inborn genetic diseases|Cardiac arrhythmia, ankyrin-B-related","Inborn genetic diseases|Cardiac arrhythmia, ankyrin-B-related",variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113288387:G:A,ANK2,VCV000985336,985336,NM_001148.6(ANK2):c.2179-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,985336,985336,Inborn genetic diseases,Inborn genetic diseases,Inborn genetic diseases,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113358977:CA:C,ANK2,VCV000985206,985206,NM_001148.6(ANK2):c.10360del (p.Arg3454fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,985206,985206,Inborn genetic diseases,Inborn genetic diseases,Inborn genetic diseases,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113358096:G:T,ANK2,VCV000954568,954568,NM_001148.6(ANK2):c.9478G>T (p.Glu3160Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,954568,954568,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+4:113335953:CTGAT:C,ANK2,VCV000818077,818077,NM_001148.6(ANK2):c.3490_3493del (p.Ile1164fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,818077,818077,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True
+17:70175686:A:G,KCNJ2,VCV004788797,4788797,NM_000891.3(KCNJ2):c.647A>G (p.Asn216Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4788797,4788797,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+17:70175387:CA:C,KCNJ2,VCV004784294,4784294,NM_000891.3(KCNJ2):c.351del (p.Glu118fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4784294,4784294,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+17:70175596:C:G,KCNJ2,VCV004783746,4783746,NM_000891.3(KCNJ2):c.557C>G (p.Pro186Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4783746,4783746,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+17:70176083:C:G,KCNJ2,VCV003755832,3755832,NM_000891.3(KCNJ2):c.1044C>G (p.Tyr348Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3755832,3755832,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,representation_repairable,0.45,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+17:70175308:T:G,KCNJ2,VCV003220886,3220886,NM_000891.3(KCNJ2):c.269T>G (p.Leu90Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3220886,3220886,Andersen Tawil syndrome,Andersen Tawil syndrome,Andersen Tawil syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+17:70175941:T:A,KCNJ2,VCV002682647,2682647,NM_000891.3(KCNJ2):c.902T>A (p.Met301Lys),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2682647,2682647,Short QT syndrome type 3,Short QT syndrome type 3,Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+17:70175271:G:A,KCNJ2,VCV002036326,2036326,NM_000891.3(KCNJ2):c.232G>A (p.Asp78Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2036326,2036326,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+17:70175263:C:A,KCNJ2,VCV002020840,2020840,NM_000891.3(KCNJ2):c.224C>A (p.Thr75Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2020840,2020840,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+17:70175464:C:T,KCNJ2,VCV001739158,1739158,NM_000891.3(KCNJ2):c.425C>T (p.Thr142Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1739158,1739158,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+17:70175685:A:T,KCNJ2,VCV001496231,1496231,NM_000891.3(KCNJ2):c.646A>T (p.Asn216Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1496231,1496231,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+17:70175676:C:G,KCNJ2,VCV000995608,995608,NM_000891.3(KCNJ2):c.637C>G (p.Arg213Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,995608,995608,,,,unmatched,,,,representation_repairable,0.45,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+17:70175977:GCTCTTA:G,KCNJ2,VCV000981438,981438,NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,981438,981438,Andersen Tawil syndrome|Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome|Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome|Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,representation_repairable,0.45,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+17:70175756:AG:A,KCNJ2,VCV000960380,960380,NM_000891.3(KCNJ2):c.721del (p.Glu241fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,960380,960380,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+17:70170729:ACTTGTTAGCGTTTTCCTGCTCACTTCCAAATGTTTCATTTCTATTTGCCATTATCTGGAAAAATCCTGGTGCTCAGAAGGGGTAAGAGATGTTAATTGAAGCATGGTGGAAAGGGTGAGGATAAGGTCAAGGCCATTTTACTTAGCTTCCTCCTCTCTCATATTTTAATGACACTTTATTTTTTAATGTTCTTGGTCTCCATAAGAAATATTTGATCTAAACTCATGTGAATTTTGCTTTTAAAAAAAATAAAAGAACACAGTCTTTCTACATCCTTTGGATTCCTGAGTTGTAGAATCTCTGGTTAGCTGTAGCGTCCTTGTATGACTTTTGCGTAGCCTGAAAGATTGAAAACAGCTACCTGCACAGATTAAGTGTTTCAGATTTTTTTAAGTGTATATTTTTATTTACCAAACATGTCTGTTTTTCAGCGTATGCAAATGCTGAGCAGTGCTACAAGCCAAGTGTCGTTGAGTATAAATGTTAGACAGGGGGCTCACACGTAGATAGATGGGTATCCCCCTCCCCTCCCCACTTCCCCCTCCTCCTCCCTCATGTTTATTGAGCTTCTAAGAGGCTGCTTTCCTAGCAGTTGTGCTCACATAGCAACATGTGCCCAGAGCACACTCAGGCTGTTCTATATGGCGTCAGCTGGGGAATAGCTGCTCTAAACACTCATTAGCAGACCTCTCTCTCAGCCCAGTACGTTTTCTTTTGCTATCTTTATTTCCTATCCTTAGAAACTTTCTTATTTATTGCACACCATGACCATATTACAGGACACATTTACTCTCATTTGATTTTTTTTTTTAGTTATTTATAAGCCATATTGGAAGTATTACCTATATAGTCAAAGCAATTTAGATCCCCCATTTGTACCATGTGATCTCCTTGACCTTACATTTATCCATAGCTCTTTCTCCTTTAACATCTACCTAAGTTTAAAACGCTGAACTATTTTTTTCCATTGCTTATGCTTAATTTTGGCTCAGCCTATAAATAGTCTTAACATGAACAGCACCACATGTAACCTCTCAATTTCCCAAAAATACTTTCTACATCATGGGTTATGGCCTGGATAAAAATGATTATTTGTGTCCATGAAATTTACATCTAGACCCTTAAATATTTTGGCTGGAAGGGAGATTTACACATTGTTCATCAAATCAAATTTCAATTCTCTGGATTTGTATCACTTAGTGTTCTCATCTACTCCTCATTGATTGCATCTCAAACATTATTTTGAATATATGCTTGAAATAAAGTTGCATGTAAGCCCTGTTTTTTTAATGATAGCTTTTCTCAGCTGCTCACGAATTGGTAATTGCTAGTGAGAGGACCGGGCAAGGAAGTTTTCTGCTTGCTTAAAGTCGCTCAGGCATGTGGGCAGGTTAACAGTAAAAGCAATTTTTACCATGAAATATTAAGACCGTTACCCCATCAAACCTTGACAGGTTCTAGACTTTAGCTATGTAATCAGCTCCACAAAAAGTCTGCATACATATATGTGTGTGCACCTGCATACACACATAAATCTGTTTGGGGGCATATCTATTTAAAGTGGCAAAAGTTTTCTTTTTGCCAAAAAAAAAAAAAAAAAAAAAAAAAGCCCAAAACTCCTCTTTTTCTCTTTCCAGGAAGAAATGGTAAAATTTCTAAATGATGCTCCACATGTGGAACAAATTCTGTTATTAGCAATGGAAATAAGACAATAATAGTCTCTCAATACAGGCTACTTTCAAGATTCTAAATGTGGAAAGCTATTCATAGGAAGCTGGTATTGTGTGATTTGTGGAATTCAAACAAATGTCCTGGGGTCAAGATTTTTGGAAAGTCATAATTCAGTCTTTAGATTTCATATGGTTGTTATGTTTTAATCTGGAAGGAGTACAGAAATAAGTCAGAAGAAATTTGAGACTGTCTACTCATGGCCCCTAATGGTAACTCACATGGAAGGATTGTTTTGAATCATGAAAAGGGAATTTCTTGGTGTCAGCTTATAATACAAAGTTCTGAAGTCAATCAGAACTCAAAAATACAAAGCATTCATTGAATGAAGTTCTTCTCCTTTTTTTGAAACGTATACCTGCGTTTGGTGTTGTTGCTGTCTCTGTCTGTTTAGTAATGTGAGAAAACTAAGATGAAATAATTGCTTAAAAAATGCTGTCCATGTACAGGATCTAGAACTTCGAGGGGCAGGATTCTTGTTTCTTTGGTCCAAGTGCAAACTTCACAGGGAAGCAGACAAAACATTGAAGCAGGTGGAAGGTTAGGAAAGCACAGTAACTTCTTTTTATAAAGTAATTCAAAGGCACTTTCAAACTGAGCATCATTTAGGTGTCAAAAGCTGCCAAAATGTAACACACATTGCAATTTTCAAAGATGACTAATCTCAGGAAAAATGTGTTGGGGCACATTCTTGCATAATAACTTGGATAAAGAAGAAGTCAAAAGACAGTAACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCACTATTCTATTTGTAGGTGGGAATCTGACTTTCTTCCTCTAGCATTTCGTCAGCCTATCCGGTCTGCTCAGTTATATCATTTAAACAAAATAGTCTGTCTTCCGATTTCAACCTTGCCATCAGGGACTCTAATATTCTCCCGTAATGCACATGCAACTCAGTGGATATCAATGCTGCGTCCACGTGAAGTTTTCTAAACATGTCCTTTTTCCAAAAATTTTACGACAAACCTTGGAATCAGACAGTCTTTCATCTGCTTAACAGGGATCCTAGCAAGTGGGGCAGGCAGAAGAAGAGAATAAGAGAAGGGAGAGGTAGACCTGAACAATAGAATATTCTAGATCCCTGGCCAAAAAGAAGGGAAAGGGGACCTGACCTGACATTTTGGTTGAACAACTGTCACAGACAACTCTTCTATGTTTAACGACTTTATGCTTTTAAATAAAAGTTTTACAAAGCATGCTTAGGATACAAAGAAATTTAAAACCTTATAATTTAATGTAAATTATACTTATCTTTACCTGATTATGTGTTTTTGTTAGGATATATTGTCTTAGACAGTAGAATTCTTTAAGAGTGGCTTATTTTGTAATGCACAGTCTCTCTTTTCTTGCAGGACATGTTCTCTGGATGTCAGCTGAGTCATTAAAGTAACTCTGCATGTCAGTAGACAGACCTTGGTAGAACCACAAGGCTCCCAGAGACACCCATCTCTCCTCATTTTTTTGGTGTGTGTGTCTTCACCGAACATTCAAAACTGTTTCTCCAAAGCGTTTTGCAAAAACTCAGACTGTTTTCCAAAGCAGAAGCACTGGAGTCCCCAGCAGAAGCGATGGGCAGTGTGCGAACCAACCGCTACAGCATCGTCTCTTCAGAAGAAGACGGTATGAAGTTGGCCACCATGGCAGTTGCAAATGGCTTTGGGAACGGGAAGAGTAAAGTCCACACCCGACAACAGTGCAGGAGCCGCTTTGTGAAGAAAGATGGCCACTGTAATGTTCAGTTCATCAATGTGGGTGAGAAGGGGCAACGGTACCTCGCAGACATCTTCACCACGTGTGTGGACATTCGCTGGCGGTGGATGCTGGTTATCTTCTGCCTGGCTTTCGTCCTGTCATGGCTGTTTTTTGGCTGTGTGTTTTGGTTGATAGCTCTGCTCCATGGGGACCTGGATGCATCCAAAGAGGGCAAAGCTTGTGTGTCCGAGGTCAACAGCTTCACGGCTGCCTTCCTCTTCTCCATTGAGACCCAGAC:A,KCNJ2,VCV000946743,946743,NM_000891.3(KCNJ2):c.-217+1029_422del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,946743,946743,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+17:70175473:A:G,KCNJ2,VCV000858285,858285,NM_000891.3(KCNJ2):c.434A>G (p.Tyr145Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,858285,858285,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+17:70175563:T:TCATTGG,KCNJ2,VCV000801410,801410,NM_000891.3(KCNJ2):c.526_531dup (p.Ile176_Gly177dup),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,801410,801410,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+17:70175935:A:G,KCNJ2,VCV000689769,689769,NM_000891.3(KCNJ2):c.896A>G (p.Glu299Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,689769,689769,"Andersen Tawil syndrome;Short QT syndrome type 3;Atrial fibrillation, familial, 9","Andersen Tawil syndrome;Short QT syndrome type 3;Atrial fibrillation, familial, 9","Andersen Tawil syndrome;Short QT syndrome type 3;Atrial fibrillation, familial, 9",variation_id,,,,locus_or_regional_context,0.25,SQTS|arrhythmia,assertion_condition_label,2,1.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+17:70175596:C:A,KCNJ2,VCV000652820,652820,NM_000891.3(KCNJ2):c.557C>A (p.Pro186Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,652820,652820,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+17:70176139:TC:T,KCNJ2,VCV000569363,569363,NM_000891.3(KCNJ2):c.1102del (p.Leu368fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,569363,569363,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+17:70175704:T:C,KCNJ2,VCV000546134,546134,NM_000891.3(KCNJ2):c.665T>C (p.Leu222Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,546134,546134,Andersen Tawil syndrome,Andersen Tawil syndrome,Andersen Tawil syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+17:70175194:G:T,KCNJ2,VCV000523694,523694,NM_000891.3(KCNJ2):c.155G>T (p.Gly52Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,523694,523694,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+17:70175692:G:C,KCNJ2,VCV000430545,430545,NM_000891.3(KCNJ2):c.653G>C (p.Arg218Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,430545,430545,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+17:70175604:A:G,KCNJ2,VCV000429589,429589,NM_000891.3(KCNJ2):c.565A>G (p.Arg189Gly),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,429589,429589,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+15:73323225:CTCCGGGAGTCCCAGGCCTCCCCGGGCCCCGGGTGGCGCGGGAGATGGCTGGGCAGCCTGCGGGGAGCGGGCGCCTGGCTGCAGCGGGGTGAGCAGGGGAGAGTCGGAGGAGGACAGGGAGCCACCCAGCGCCTTGTGGAAGTGGCCAAACCCGGCTATGGTGGTGGCGGCTACGCCAGCTGATGGTGTGGGAGCCGAGGGGGAGCCACAGGCCCCGGGGGGTGGGGAGGAGCTGGATGAGGGCAGGAGTGGGCTCAGTCCAGCGGGGGCAGAGAATCCAGCCAGCTGTTGGATGTGGAAGGAGGATGAAGACGGTGTGTCCACCTGGGACGGGCTGCTGGCGGGCGAGGCGGAGCCCAGCGCAGAAGGGATCAGGGACTGCAGCCGTTTCAGGTGCCTTGGCGTCTGCCCGGCACCGAGGTTGCCCAGCCCAGATCCTGGGGGAGGGCGGAAGATGGCAGCAGGCAGGCGAGGGTGGTGGGTGAGGGCTATGGCCACAGAAGTGGTGGCAGCGGCAGCCTGCAGTGGTGCCTGGATCAGCGGGGTCCAGATGACGGGCGTGGGGGTTGGGGTGGCAGAGGCAGCAGCCTGGACGCGGTGCGCGCAGTGGGCCATCTCCCGGTCATGCTGCACAATCTGCTGGATGATCTCATTCTCCTGGTAGTTGAAGACGCCGGAGTTGAGGTCGTGCTGGACTTTGTGGAGGAGGATGGAGTTCTTCTTGCCTGGGCCACAGAACAAGAACAGGCACTCAGGGCAGAGCGGGGAAGGAGATCAGGTGCAGACCTGGCTTAGGCATAAAGGAGCCCTGCCCTCCTCCCCCAACACCCCCCACCTGCCCCGCCTGTGGCCCCTCCCCCTCACCAATGCGGTCCAGGCGGTCCAGCGCCACGGTCTCGAAGGCCCTTCGCATCATGGGGTACTCCTCCAGCACCTCATTGAAGTTGTCCACGCTCAGCGAGTAGAGGCGGCAGTAGGTGTCGGCCCTCACGCTGGCTGTGCGCCGGCCCCGGGTCAGCAGGCAGATCTCTGCCAGAGCATCAGGACTCAGGATGAGGCATGCACAGCCTGCCCAGGCCAGGGGGACTGCCCACCCTGACCTTGGCCCTGACTGCCTGGCACAGAAGCCTTGGCAGGCTCACAAGGCCCTGCCCCCAGACTGCGGCCACACTGGATGCCTCTTCCCCACCAAATGGGGGCTGGACAGACTTTCCCATCTTTGGGACATACCCTCTGCTCTGGACTGAATGTGTTCCCCCAAAATTTATATGTTGAACCCCTAATCCCAGCATGATGGTATTTGGAGGTGGGGCCTAGGGAGGTGATTAGATCACGAGGGTGGAGCCCTCGTGGATGGAATTAGTGCCTTTTTAGGAGGAGGCCGGGGAGCTGGCTCATCCTCCTTCTGCCACATGAGGACACAGCGAGAAGTCAGCAGTGCAGCCCAGAAGAGGGCCCTCACCAGCCCCAACCATGCTGGCCCCCTCAGCTCAGATGGCCAGCCTCCAGAACCATGACACATACATTTCTGCAGTTTACAAGCCACCCAGTCTGCGGCACTTTTGTTACAAGAACCCAGACTGACTAAGACACCCCTACCCTGGGCTCACAGACACCTCCCTCCAGGCTGTGGCCAAGAAGGGTGCTCACTGCCTCTGTCCCCTCGGTATCTCCCCAAACCAGCCCCTGGGAGCAGCTGCCCTGTCCCCCAGGGCCCAGGGCTGCCTCACCTCCAAAGTAGGAGCCGTCGGCCAGCTTGGTCTCCTTGTTGCCCTTGGTGAGCACGCTGACCACGCCATGCTGGATGAAGTACATCTTCTTGCCAATGGTGCCTTCCCGGATGATGTAGTCCCCAGGCTGGAAGACCTCGAAACGCAGCTTGGTCAGCATGGACGTCACGAAGTTGGGGTCCGCATTGGCAAACAGTGGCATGGAGGCCACCAGCTTCCGACAGTTAAAGTTGATGATCTCCTGCCGGACAGGGTGGATTGGGACACGGGAAGGAGGTGGTGAGGGGAGCTGGCTGCCAGGAAGGCCTGGCTCCCCTCCACGCCGGGCCGCCACACAGCTCACCTCCCGCAGGGGCTCGCTTAGCTCGCCCAGGATGCTCTCCTCGTCGAACATCTTGCCCTGGTAGCGGTGCTCGTAGTAGTCGTGGATGCGCTGCCGGGTGTCGGGCGGGAGCTTGTGAAAGGACATGTACTGCTCCACCTGCTTGTACTGAGGCCGGGAGAAGGGGGCGTCAGCTCCACCCCACCAGGGGGCGTCAGCAGCCAGCCCCACCACCTCGGCAGGCACCACATCCGGGCACCCACCCCGGGGGATTTCCTGGCTAAACTTGGTTCCTTGAGATCTGAGGTCTACAGTGTGGAAATGACCTCACTGTGCTCAAAACAACTGCCCGGGCTCCCAGCTGCTTGGCATGGAGGAGGGGCCCCCACCAGCATCTGCTCCTCGCTGTGTTCAATACTAAGGAGGTGGGTGAGGGCGGCAGGGAATGTCCAAAGCCCAGTGACAGGACATCAACTGTATCTCCAGGGAGGTCGATCACATTTCCTTGGAATGTTACACTGGGGACAGGGAGGCCTCACCGACTCTGCGGGGAAAGAAGCTGTTTCCTCCCAGCAGTGACAACTGGCACAGTCAGGAGGCAAGGGTGCGATGGATCAGAACGCTCAGAGGCAGAAGCAAGGATGCCTGGCTGCTCGATGCTATGAATCCAAACGTGGCCTCAGCTGAGACCCCGGGTCATTTCGTTGAGAGCAACTCCAGGTAAGGGAAAAGCAGGGTAGACTAATTTGAGGGGACCTTCAAATAGAGGCTCGGGTACAAAAGATTTGTGAGCCTCAGACCCTGGGGCTCAAACAAATAAGAAACGATCCTGCCCGCCCTCACTGAGAGGAGTGGACATTGCTCCCACCATCCTAGATTGTGGGTGGACAGTGGGATTCCCAAGAGCAGGATGAGGGATGGGAGGTATTGATTAGGCAACAACACAGACTCCTCCCGGATGGGAAGTAGAGGAAGTCCCTATCACCCCAGCAGCAATCAGAAACGGGGCAGCCTGTTTGCATCTATGTGTGCTCCAAAGAGGTGGGAACGCACAACTGCTGCACAGAAACACCCACGGGCAAATGAGGGCTGAGAAATGACATTTCCTAAACTTCTTCCAGCCACCCTGGCCTCTGACTGCTCCAAGTTATGCAAAGTCCCAGGGGACAGTGACTTCCTGGCTGGTTACAGAGATGGAGGCAGCTGGAAAACCTGGAGCTGTGTTTTAGAGAGTCCCTCCCCTGACCCCCAGAGAACAGGTAGGGGTAGGGAGGCAGGGTCTGGACATGGGGCAGGAGTTAAAAGGTTGAAGTGGTCCAGGTGAGAGACAGACGTGGGGATGGAGAGGAGGGAAGACATTTAAGAGAAATTTATTGGGCAGACTTAGATATTAGCCAAAGGACAAACATTTTAAAGTCTCAAATGAAAAGCCACAGACGCCTTGACTCTGGCCCTAAAATAAACTCTGATGCATTTTCTTTTCTTTTTTTCTTTTTATTTATTTATTTATTTATTTATTTTTTTTGTTAAGACAGGGTCTCGTTGTGTTGCCTAGACTGGAGTGCAGTGATATGAACACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCGATTCTCCCATCTCAGCCTCCTAAACAGCTGGCACTATAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACAGGGTTTTGCCACGTTGCCCAGGCTGCTCTTGAACTCCTGGGCTCAAGAAATCAGCTCGCTTCAGCCTCTCAAAGTGCTGGGATTGCAGGCATGAGCCATCATGCCCAGCCTCCCAGACGCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGGGTGCAGTGGTGCAATCTTAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTGAGTAGCTGGGACTACAGGTGTGCACCACCACGCCCAGCTAATTTTTTTTTTACTTTTAGTAGGGATGAAGTT:C,HCN4,VCV004755562,4755562,NM_005477.3(HCN4):c.1591-1861_2867del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4755562,4755562,"Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant",variation_id,,,,representation_repairable,0.45,conduction,assertion_condition_label,1,-0.0,conduction,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False
+15:73329730:C:T,HCN4,VCV002636206,2636206,NM_005477.3(HCN4):c.1433G>A (p.Cys478Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2636206,2636206,HCN4-related disorder,HCN4-related disorder,HCN4-related disorder,variation_id,,,,locus_or_regional_context,0.25,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True
+15:73323574:G:GCGGA,HCN4,VCV002028837,2028837,NM_005477.3(HCN4):c.2515_2518dup (p.Ala840fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2028837,2028837,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False
+15:73325193:C:G,HCN4,VCV001697968,1697968,NM_005477.3(HCN4):c.1740G>C (p.Glu580Asp),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1697968,1697968,Left ventricular noncompaction cardiomyopathy,Left ventricular noncompaction cardiomyopathy,Left ventricular noncompaction cardiomyopathy,variation_id,,,,representation_repairable,0.45,cardiomyopathy_overlap,assertion_condition_label,1,-0.0,cardiomyopathy_overlap,structural_electrical,0.7,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False
+15:73329718:C:T,HCN4,VCV001675065,1675065,NM_005477.3(HCN4):c.1445G>A (p.Gly482Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1675065,1675065,Left ventricular noncompaction cardiomyopathy,Left ventricular noncompaction cardiomyopathy,Left ventricular noncompaction cardiomyopathy,variation_id,,,,locus_or_regional_context,0.25,cardiomyopathy_overlap,assertion_condition_label,1,-0.0,cardiomyopathy_overlap,structural_electrical,0.7,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False
+15:73343533:T:C,HCN4,VCV001359536,1359536,NM_005477.3(HCN4):c.1061A>G (p.Tyr354Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1359536,1359536,Brugada syndrome 8|HCN4-related disorder,Brugada syndrome 8|HCN4-related disorder,Brugada syndrome 8|HCN4-related disorder,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False
+15:73329692:C:G,HCN4,VCV000666148,666148,NM_005477.3(HCN4):c.1471G>C (p.Asp491His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,666148,666148,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False
+15:73324088:C:T,HCN4,VCV000470654,470654,NM_005477.3(HCN4):c.2143+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,470654,470654,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False
+15:73332261:G:C,HCN4,VCV000374861,374861,NM_005477.3(HCN4):c.1241C>G (p.Ala414Gly),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,374861,374861,"Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant",variation_id,,,,locus_or_regional_context,0.25,conduction,assertion_condition_label,1,-0.0,conduction,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False
+15:73329722:A:G,HCN4,VCV000374860,374860,NM_005477.3(HCN4):c.1441T>C (p.Tyr481His),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,374860,374860,"Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8||Cardiovascular phenotype","Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8||Cardiovascular phenotype","Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8||Cardiovascular phenotype",variation_id,,,,locus_or_regional_context,0.25,Brugada|conduction,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True
+15:73329719:C:G,HCN4,VCV000374859,374859,NM_005477.3(HCN4):c.1444G>C (p.Gly482Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,374859,374859,"Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8","Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8","Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8",variation_id,,,,unanchored,0.0,Brugada|conduction,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True
+15:73325000:T:TGGTGAGCACGCTG,HCN4,VCV000374858,374858,NM_005477.3(HCN4):c.1920_1932dup (p.Lys645fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,374858,374858,"Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant",variation_id,,,,locus_or_regional_context,0.25,conduction,assertion_condition_label,1,-0.0,conduction,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False
+12:2653892:G:A,CACNA1C,VCV004689845,4689845,NM_000719.7(CACNA1C):c.4132G>A (p.Gly1378Arg),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4689845,4689845,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2457652:GC:G,CACNA1C,VCV004613766,4613766,NM_000719.7(CACNA1C):c.704del (p.Ala235fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4613766,4613766,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2582847:C:T,CACNA1C,VCV004536255,4536255,NM_000719.7(CACNA1C):c.2129C>T (p.Ser710Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4536255,4536255,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2567737:C:G,CACNA1C,VCV004531394,4531394,NM_000719.7(CACNA1C):c.1838C>G (p.Pro613Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4531394,4531394,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2449015:G:C,CACNA1C,VCV004531392,4531392,NM_000719.7(CACNA1C):c.517G>C (p.Glu173Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4531392,4531392,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2666696:A:G,CACNA1C,VCV004530641,4530641,NM_000719.7(CACNA1C):c.4537A>G (p.Lys1513Glu),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4530641,4530641,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2567600:C:G,CACNA1C,VCV004292479,4292479,NM_000719.7(CACNA1C):c.1701C>G (p.Phe567Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4292479,4292479,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2651688:C:T,CACNA1C,VCV004278773,4278773,NM_000719.7(CACNA1C):c.3994C>T (p.Arg1332Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4278773,4278773,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2597290:G:T,CACNA1C,VCV004086502,4086502,NM_000719.7(CACNA1C):c.2853+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4086502,4086502,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2486121:A:T,CACNA1C,VCV003897582,3897582,NM_000719.7(CACNA1C):c.775A>T (p.Asn259Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3897582,3897582,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2593249:G:A,CACNA1C,VCV003894932,3894932,NM_000719.7(CACNA1C):c.2567G>A (p.Gly856Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894932,3894932,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2582943:G:C,CACNA1C,VCV003775665,3775665,NM_000719.7(CACNA1C):c.2224+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3775665,3775665,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2512930:G:C,CACNA1C,VCV003718454,3718454,NM_000719.7(CACNA1C):c.1336G>C (p.Asp446His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3718454,3718454,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2665673:TA:T,CACNA1C,VCV003600410,3600410,NM_000719.7(CACNA1C):c.4495del (p.Arg1499fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3600410,3600410,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2605112:C:T,CACNA1C,VCV003573697,3573697,NM_000719.7(CACNA1C):c.2992C>T (p.Arg998Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3573697,3573697,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2608531:ACT:A,CACNA1C,VCV003483968,3483968,NM_000719.7(CACNA1C):c.3379_3380del (p.Ser1127fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3483968,3483968,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2120345:TACTG:T,CACNA1C,VCV003483966,3483966,NM_000719.7(CACNA1C):c.396_399del (p.Thr133fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3483966,3483966,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2610590:TC:T,CACNA1C,VCV003393691,3393691,NM_000719.7(CACNA1C):c.3612del (p.Lys1205fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3393691,3393691,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2486140:T:A,CACNA1C,VCV003392514,3392514,NM_000719.7(CACNA1C):c.794T>A (p.Met265Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3392514,3392514,"Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8","Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8","Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2608641:G:A,CACNA1C,VCV003382973,3382973,NM_000719.7(CACNA1C):c.3487G>A (p.Gly1163Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3382973,3382973,Timothy syndrome;Brugada syndrome 3;Long QT syndrome 8,Timothy syndrome;Brugada syndrome 3;Long QT syndrome 8,Timothy syndrome;Brugada syndrome 3;Long QT syndrome 8,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2567731:T:C,CACNA1C,VCV003382740,3382740,NM_000719.7(CACNA1C):c.1832T>C (p.Met611Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3382740,3382740,"Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8","Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8","Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2653855:CCTGAT:C,CACNA1C,VCV003377227,3377227,NM_000719.7(CACNA1C):c.4097_4101del (p.Leu1366fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3377227,3377227,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2685745:C:A,CACNA1C,VCV003375805,3375805,NM_000719.7(CACNA1C):c.5583C>A (p.Tyr1861Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3375805,3375805,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2664838:G:A,CACNA1C,VCV003370332,3370332,NM_000719.7(CACNA1C):c.4246G>A (p.Glu1416Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3370332,3370332,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2448974:A:G,CACNA1C,VCV003252305,3252305,NM_000719.7(CACNA1C):c.478-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3252305,3252305,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2595960:T:G,CACNA1C,VCV003069192,3069192,NM_000719.7(CACNA1C):c.2750T>G (p.Leu917Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3069192,3069192,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2486134:A:T,CACNA1C,VCV003066281,3066281,NM_000719.7(CACNA1C):c.788A>T (p.Lys263Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3066281,3066281,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2457680:C:G,CACNA1C,VCV003027509,3027509,NM_000719.7(CACNA1C):c.731C>G (p.Pro244Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3027509,3027509,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2677138:C:T,CACNA1C,VCV002921274,2921274,NM_000719.7(CACNA1C):c.4873C>T (p.Gln1625Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2921274,2921274,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2688546:C:T,CACNA1C,VCV002626971,2626971,NM_000719.7(CACNA1C):c.5884C>T (p.Arg1962Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2626971,2626971,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2585498:T:G,CACNA1C,VCV002626927,2626927,NM_000719.7(CACNA1C):c.2460+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2626927,2626927,CACNA1C-related disorder,CACNA1C-related disorder,CACNA1C-related disorder,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2504884:G:GT,CACNA1C,VCV002584438,2584438,NM_000719.7(CACNA1C):c.1158dup (p.Thr387fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2584438,2584438,CACNA1C-related disorder,CACNA1C-related disorder,CACNA1C-related disorder,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2664824:G:A,CACNA1C,VCV002578446,2578446,NM_000719.7(CACNA1C):c.4233-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2578446,2578446,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2486109:C:T,CACNA1C,VCV002577479,2577479,NM_000719.7(CACNA1C):c.763C>T (p.Gln255Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2577479,2577479,Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies,Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies,Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2653860:T:C,CACNA1C,VCV002575833,2575833,NM_000719.7(CACNA1C):c.4100T>C (p.Ile1367Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575833,2575833,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2120351:CTA:C,CACNA1C,VCV002506866,2506866,NM_000719.7(CACNA1C):c.400_401del (p.Ile134fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2506866,2506866,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2486161:C:T,CACNA1C,VCV002504611,2504611,NM_000719.7(CACNA1C):c.815C>T (p.Ala272Val),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2504611,2504611,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2512827:G:C,CACNA1C,VCV002504609,2504609,NM_000719.7(CACNA1C):c.1233G>C (p.Glu411Asp),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2504609,2504609,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2582832:G:A,CACNA1C,VCV002501348,2501348,NM_000719.7(CACNA1C):c.2114G>A (p.Gly705Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2501348,2501348,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2608677:CAGGA:C,CACNA1C,VCV002452672,2452672,NM_000719.7(CACNA1C):c.3524_3527del (p.Gln1175fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2452672,2452672,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2679753:GC:G,CACNA1C,VCV002251969,2251969,NM_000719.7(CACNA1C):c.5403del (p.Ile1802fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2251969,2251969,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2486116:T:C,CACNA1C,VCV001803055,1803055,NM_000719.7(CACNA1C):c.770T>C (p.Val257Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1803055,1803055,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2677772:C:T,CACNA1C,VCV001744618,1744618,NM_000719.7(CACNA1C):c.4996C>T (p.Arg1666Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1744618,1744618,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2688554:G:GC,CACNA1C,VCV001712194,1712194,NM_000719.7(CACNA1C):c.5897dup (p.Gln1967fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1712194,1712194,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2655228:C:G,CACNA1C,VCV001705745,1705745,NM_000719.7(CACNA1C):c.4222C>G (p.Leu1408Val),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1705745,1705745,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2581663:C:T,CACNA1C,VCV001705744,1705744,NM_000719.7(CACNA1C):c.1969C>T (p.Leu657Phe),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1705744,1705744,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2665599:G:C,CACNA1C,VCV001700075,1700075,NM_000719.7(CACNA1C):c.4417G>C (p.Ala1473Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1700075,1700075,Neurodevelopmental delay|CACNA1C-related disorder,Neurodevelopmental delay|CACNA1C-related disorder,Neurodevelopmental delay|CACNA1C-related disorder,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2634334:T:G,CACNA1C,VCV001699326,1699326,NM_000719.7(CACNA1C):c.3866T>G (p.Leu1289Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1699326,1699326,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2504886:T:TA,CACNA1C,VCV001699036,1699036,NM_000719.7(CACNA1C):c.1159dup (p.Thr387fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1699036,1699036,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2610588:C:G,CACNA1C,VCV001695801,1695801,NM_000719.7(CACNA1C):c.3606C>G (p.Tyr1202Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1695801,1695801,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2567752:T:G,CACNA1C,VCV001685597,1685597,NM_000719.7(CACNA1C):c.1853T>G (p.Val618Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1685597,1685597,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2449093:G:A,CACNA1C,VCV001685596,1685596,NM_000719.7(CACNA1C):c.595G>A (p.Asp199Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1685596,1685596,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2504535:A:G,CACNA1C,VCV001344837,1344837,NM_001167623.2(CACNA1C):c.1213A>G (p.Ser405Gly),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1344837,1344837,Seizure,Seizure,Seizure,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2448994:T:C,CACNA1C,VCV001325838,1325838,NM_000719.7(CACNA1C):c.496T>C (p.Phe166Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1325838,1325838,Neurodevelopmental delay,Neurodevelopmental delay,Neurodevelopmental delay,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2677868:G:A,CACNA1C,VCV001313855,1313855,NM_000719.7(CACNA1C):c.5091+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1313855,1313855,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2608654:T:C,CACNA1C,VCV001309258,1309258,NM_000719.7(CACNA1C):c.3500T>C (p.Val1167Ala),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1309258,1309258,Timothy syndrome|Long QT syndrome,Timothy syndrome|Long QT syndrome,Timothy syndrome|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2608657:C:A,CACNA1C,VCV001303511,1303511,NM_000719.7(CACNA1C):c.3503C>A (p.Thr1168Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1303511,1303511,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2504529:G:A,CACNA1C,VCV001302971,1302971,NM_001167623.2(CACNA1C):c.1207G>A (p.Val403Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1302971,1302971,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2605121:C:T,CACNA1C,VCV001302480,1302480,NM_000719.7(CACNA1C):c.3001C>T (p.Arg1001Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1302480,1302480,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2651679:C:T,CACNA1C,VCV001214422,1214422,NM_000719.7(CACNA1C):c.3985C>T (p.Arg1329Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1214422,1214422,Hypotonia,Hypotonia,Hypotonia,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2653847:G:T,CACNA1C,VCV001164022,1164022,NM_000719.7(CACNA1C):c.4087G>T (p.Val1363Leu),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1164022,1164022,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2581667:T:C,CACNA1C,VCV000981247,981247,NM_000719.7(CACNA1C):c.1973T>C (p.Leu658Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,981247,981247,Intellectual disability,Intellectual disability,Intellectual disability,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2512849:G:C,CACNA1C,VCV000978295,978295,NM_000719.7(CACNA1C):c.1255G>C (p.Gly419Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,978295,978295,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2053592:TC:T,CACNA1C,VCV000978276,978276,NM_000719.7(CACNA1C):c.32del (p.Pro11fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,978276,978276,Conduction disorder of the heart,Conduction disorder of the heart,Conduction disorder of the heart,variation_id,,,,representation_repairable,0.45,conduction,assertion_condition_label,1,-0.0,conduction,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2457671:T:C,CACNA1C,VCV000973262,973262,NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,973262,973262,Timothy syndrome;Brugada syndrome 3,Timothy syndrome;Brugada syndrome 3,Timothy syndrome;Brugada syndrome 3,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2493386:G:A,CACNA1C,VCV000802809,802809,NM_000719.7(CACNA1C):c.1113G>A (p.Trp371Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,802809,802809,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2665607:C:G,CACNA1C,VCV000633648,633648,NM_000719.7(CACNA1C):c.4425C>G (p.Ile1475Met),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,633648,633648,Long QT syndrome 8,Long QT syndrome 8,Long QT syndrome 8,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2567644:C:A,CACNA1C,VCV000633647,633647,NM_000719.7(CACNA1C):c.1745C>A (p.Ala582Asp),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,633647,633647,Long QT syndrome 8,Long QT syndrome 8,Long QT syndrome 8,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2653847:G:C,CACNA1C,VCV000522828,522828,NM_000719.7(CACNA1C):c.4087G>C (p.Val1363Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,522828,522828,CACNA1C-related disorder,CACNA1C-related disorder,CACNA1C-related disorder,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2566522:A:G,CACNA1C,VCV000521136,521136,NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,521136,521136,Timothy syndrome|Cardiovascular phenotype,Timothy syndrome|Cardiovascular phenotype,Timothy syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2605097:G:C,CACNA1C,VCV000450908,450908,NM_000719.7(CACNA1C):c.2977G>C (p.Val993Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,450908,450908,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2653847:G:A,CACNA1C,VCV000450063,450063,NM_000719.7(CACNA1C):c.4087G>A (p.Val1363Met),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,450063,450063,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures|CACNA1C-related disorder","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures|CACNA1C-related disorder","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures|CACNA1C-related disorder",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+12:2610700:G:GA,CACNA1C,VCV000432248,432248,NM_000719.7(CACNA1C):c.3717+1_3717+2insA,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,432248,432248,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True
+7:82167142:AAGAAATATTGCACAGATGCACATTGTTAAATACCTTAAAAGATAAAAGAATTATAAAGTTTAAAAGAAGGACCTTTTGAAAGATGATAAAATTTATCTTCAAATTAACCATTTTTAAATGTTTGGTTAAAATATTGAGAAAATTTACAATTGTTTTGTGTGCTTTCACAAAACAAGAGATTTAATGTTAATGATTTATAAGTTTCAACCACGAATTTGAACTGTATTCTGCTCTGGTCTTGAAGGATTTATTTAACCTTGCTGTATCTGTGCACTAAAGCACCACCTAGTTTATTAGGAACAAAAAAAAAGCTGAGAGGAATGTATTATTTTTGTACTTTTTACTTATTTGAGTCTTAAGATTAGATAGTCTTCATTGAGGTTCTATTCTCCAAGCACAAAAACGACCACTATCTAAACCTTCTATCACTCTATGGCATTTCAAAGGGAAGGGCTATCATAAAGACTATGTATGGCTGCCAAGGTTAGATATGGGAAATAGCAATTCTCAATGTGCAAACTGTGACAGACCTGTGTCCTGTCAACATCATTCACGGTCCTTCAGGAAGGATGCTCAGGAAATGAGTTGACAGGACTCTAAGTGGTCTAACTTGTTTTCCCTTTAACAGTCTCTTTTGATGTCAATCAGTATGTCAACAGGCCCTAAATAAATTGTGAGGTAACCAAGGGGGAAATTAGGAACAGAATTTCTTCAAGAATTCTCCCACATGGTGACCACCATTTGCTAAGAATTCCTAATACTTACTGGGCAAATAATTCATTTTCTATTTCACCATAGAAGATTTAGTAATGGCTTTTGTATTATTGTGGGACTGATTTGTCCTCTTGCACAATGTTTTTTTAGCAGTACTGCTACTTGGATAGAGGCACCAAAAAAGTAGAAAATAAGGGTTACATTTCAAGATAATTTTTTTCACTTTTTGACATCTCTAAGAATACAGCATACAATTGCTGATGCATCATAATTTAAGTGGCTTTTTTGGTGGGGGCTTGGGGGAGATGAGGTCTCTCTCTGTTGCCCAGGCTGGAGTAGTACAGTGTCATGATCTTGGCTCACTGCACCCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTACCAAGTAGCTGGGATTACAGGCATGCACCACCACGCACAGCTAATTTTTGTATTTTTAGTGGAGATAGGGTTTCTCCATGTTGACAAGGCTGGTTTTGAACTTCTGGCCTAAAGTAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACCATGCCCGGCCAAGTGGCTTTTTCTTAGAAATAACTAAAATAAATAGAATGACTAAGTGCCTTACAATTGATGATTTACATTCAATAAAATATGGTAATAGCAAACTTGAATTTAGAGTTTTTGTATTGTGTTTGTGTTGTGGTTACCCATTACCTCAATATAGAAAACAAAATAATTGCCAAATGTTAGTGTTAATGAGCCCAATATTAAAGAGTTCACAATGTCTAGGAAATGAAACCTTATGTCTAGAAATTAATAAATAATAGTTAAATGAAACAACAATGATATAGGCATTACTACAACCCTACTTGCCAAGTTATTTTTTTCCACATTATTGCTCTTTAGAAAAGTGAAAACAACATACAACTAATAAATGACTACTTAAAATACTACCAAATGAATTTAAGGCAAAGAAAAAGGGTGCTTTGAACAGGGAATGTATAATCTATATATTTCAGAGGCTGAGTTTGTGTGTCTGTTTTGAGTTCTCCGAATTACTGAAGATTCAAACTAAAACAGCACCAAGGGTATTATATCTATGCTAGGCAGAATACATGATCTAGCCATACATCTATTATGACTTTACACTGCTTTTACCATGCACGCTTTATGTTGTGGGACATAAGGGAAGAGTAATTTATATTTAATGTTGTTAATCAAACATATATTTAGCTAGATTTGTTTTGCTGCTTTTTCCCTATTTGCAAAAACAAAAAAAATCGTTTTTATCTAAAAGCAACTAAGTATATTGTAAGCCTCTTCATTCACTAGATGAGCTTACAGTTTGCTCGATGCTCTAGGAGCTTATGTTTTTAGCTTAATCATTGATTTTTTCCTTAATATATCATGGATAGCAAATTGATCTTTATTAACCTGTGTATGATAAAGGTTGTAGACAAAGCCAATACCTACATAATATTAATACCAATCAAGTTAAGTGATATGATCAGTTCAGTAGAGAATCAAACAAACTGGCAGTTGTCAAATAGAGTCTCTCATTAGTAGACTGTTTAAAATATATAAATAAGTGATAAACAGTAAAAATAAATAATATCACAAGTATCAAGAATGGAAGACTATTATATACATGAATTAAATATCATTTAGTGCATTTTCCTTTGATATTCAACATAATCATAGAAACACAAAGAAGTGCTAATTCTTAAACCTCAGTTTAGTGTCTACTGAAGCACAACTACATACCTTCAAATTTGAGACTTTTGCTTTGCAAAGAGTACAATTAAGCTGTCGCTCACATTCTAAACCTATTTTAAATGTGGGAAGGTAGAGGGCAGTTGTTTACATCCCCAAAATGAGTTGTCTGGAAGTTTTCTGTGATCAGAAATTATAAAGATTTTCTTTCACTACAACTGTAATCACTCAAGTATGTAACAGAAGTACTTTCTGATTATTAAGGAATTTTTTTTTTTTTACTGTGCCCCTTGGCTATAAGAGGATAGATAAATGATAGATATGCAGACCTTACCACAAGGAGAATTTCTGCTATTTCTATAAACTAGTAACTCTTAGTTCATAAAACAAGTTTATTAAGAAAAAAAAAACATGCAACCGCTAATGTCAGCTGACATTTCTCAAAGTAGGCCAGAGTAGAAGAGAGATTACTTCTAGCTAAAGTGAAGCAAATTAAATTTTAAGAAGTTGAATATATTCATTCTCACTTTCATCATATTGCCCACCATCAAGGTGATTATAATATGTATACTGCTTCTTACAAACTCAAAGTAGTTAAAAGCAACTTTTTCCAACTTGTATATTCATAATATCGACAAAAATTATTCAGATATTAAAATTTAATGCTATTTTTAATGTATTTTATAAATAATGTACCTTTAATTATGGGAGAACATTTCAAGGGTTTTAAAGGGTTTTTTGGTTTTTGTTTTTTTTTGGTAATATGGAACATAAAGTACATTTTGGCTAACTTAATTGGCCCTGATTACCCAAAAGCAATTTATTTAAAAAGCAACAAGTATGATTATTTTTAATCCCACAACATCATAAGATTCCATCATTAAAATATATTTTAATATGCATGTAATTATCCATACACAATATGTCAAGCTATTTAAATCAAGTAGTTAAAAGGGGTTCTTACTGCAAAATCTTCTCTCCACTGGTGAGCTGCTTGAACTTTCTCCGCTTCCAATGCCAGGCGCTGAAAAACAAACAATAAATCTTAGAATTCAAATGAACACGTAATATGGAATTGTTATATAAAATGCTTGCGCTTTCTAATCAATTTTGAGGACATAAAAAGCAGAAGATGATCCTTATTTATGATTCATAAATTCTAAATCATTTAGTAATCTAACCTACTAAAGTTGATGTTTGTATATTTACTCTTCAGCAATATAAATAATATACTATTCTTGAATACCATTAAGTTTGTTACCTCTGCCATCATCAGCTATAGTGTCCTCTATGAGTGCTTTCTTTCAATGACTAATACTTCAGTTTTTAGAAAAACACTTAAGTATACTAATTTTCATAGAATCTTATTTTTAGTAAATACCTTTGGAGCATACATTTCTCTTAAAAAATGACATTGAGAGATTAATATGCACTAAACAATATACTAGGCACCTTCTTAAATGCATATTGAGTTTTTACCAAAAGCCACAAAAGCTGAAATAACTTCCCCTTTGATGAAGTACATCTTTAGTAGTTCTTTCAGCGATAATCTTTGATAGAGGATTTGTGCATCTTAAAATTGCTTTATTTCACCTTCAATCGTGTATGCTAAAGTAGTTAAGAATTATAAGCCAATTTATTTTCCTATAGCACTTTCGAAATGCTATTCCATTAAGTTCAGTGGGAGATGACATTGCTAGTGTCAGCCTGCCAATCACTTTTTATAAACTTTTTTTTCCCCTATTCCAATAGCTTTTAGACTTTTCTCTTTGTATTTTTCAACTTCACTATGATGTTCTCCATGTGATAGGCTTTCATAAGACAGTGACATTTAATGGTTAGGAACACAGAGTTGGGGACCCGACTGCCTAGATTTGAATATCAGCCCTTGCAAACTACTAGCTGTGCAACCTTGGGAAAAGTTAAGACTCTTCTCCCATTCTCTCATGTGAGTAATGTGAAAGCCTGCCTCATGGCTTATTGGAAGGACTAAATGAGTTACAAAGTGCTTAGAACAGTGCCTGGCACAAACTAAACAATATATATGTCAACTATCAACTTCAAAGAGTAATGGTTCTGTTTTCTCCCTGGATCCCCTAGAGAAAATAGTGCAGTGTTGAGTTTATTTGTGGTTTGCCTTATGCAGCTAGAAGATAGTGATAAAACTGAGCAAACAGAAAAGTAAATATAATAAATATACTAAACTCACTTATTAAGGTATAGAAATTATCAGGTTAGGTTTAAAAAATTACAAATCTCAGAGTCATTTATTGATTCATGCTGTTTGTGATCTATGAACTATTCCTTAGCGTAAGTTCTTCCTGTGGAGGTCCAGTCTACACTGGATAAACATCCTTCTAGACCAGTTTTTATATTAATGTATTGGCTTCTATCCCTGTGATTATAATCTATTCATTTTTCTAAGCTGTTGCATAGGTTTTATCAGTGACTCTATAATATTGCCTAGTGGGAGATCTCAATTTAAGAGTCCCAAAGCTAAATTTAAGTGAAAATCTATCATAGTGTGCCAAAAGGACAATGGTTTTGTTTTTCACTACTAGGTAGAAATGGAGTATATAAGAAGCTAGGAAATGTTAGAAATTGTACCACATAGAGTAACCAAAAGGCGGCTCCCTCTCCCTACAAAAACAAAAAACTAAGCAGCAAAGCCAAAAGACAAGCATATACATTTCAGGAACACTGCATCATAATACTTTTAGAAACTCAACTTCACATGAAAAATGAAGCAAAACATGAATAAAATGGCAAAAGGAATGGAAATGGAAGCAACTCTTCTATAGAAACACTTCAGTATGGGAAGATAAGGAAAGAGAAGATAGAATGAGAAAATAAGCATGAAGGCTTTTTCTTTTTTTCTTTGTTTTGATATAGGGTCTCACTCTGTCTCCCAGCCTGGAGTACAGTGGTGCAATCATAGCTCCCTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCTAAGTAGCTGGGACTACAGGTTTGCATCAAGAAACCCGGCTTTTTTTTTTTTTTTTTTTTTTTTGGTAAAGATGGGGTCTCAAACTCCTAGCCTCAAATTATCCTCCTATCTC:A,CACNA2D1,VCV004277370,4277370,NM_000722.4(CACNA2D1):c.295-2080_354+3407del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4277370,4277370,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,variation_id,,,,locus_or_regional_context,0.25,Brugada,gene_context_fallback,1,-0.0,Brugada,provocation_dependent,0.8,limited,0.25,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:82084801:C:T,CACNA2D1,VCV001802181,1802181,NM_000722.4(CACNA2D1):c.626G>A (p.Gly209Asp),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1802181,1802181,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,variation_id,,,,locus_or_regional_context,0.25,Brugada,gene_context_fallback,1,-0.0,Brugada,provocation_dependent,0.8,limited,0.25,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:82060485:T:TGTTC,CACNA2D1,VCV001802179,1802179,NM_000722.4(CACNA2D1):c.818_821dup (p.Ser275fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1802179,1802179,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,variation_id,,,,representation_repairable,0.45,Brugada,gene_context_fallback,1,-0.0,Brugada,provocation_dependent,0.8,limited,0.25,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False
+7:91993050:C:T,AKAP9,VCV004687971,4687971,NM_005751.5(AKAP9):c.571C>T (p.Gln191Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4687971,4687971,Long QT syndrome 11,Long QT syndrome 11,Long QT syndrome 11,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,limited,0.25,dominant,scaffolding,False,False,False,0.0,False,2.5e-05,,False,False,False
diff --git a/data/processed/cab_condition_label_join_summary.csv b/data/processed/cab_condition_label_join_summary.csv
new file mode 100644
index 0000000..0d69ee6
--- /dev/null
+++ b/data/processed/cab_condition_label_join_summary.csv
@@ -0,0 +1,3 @@
+condition_label_join_source,n_assertions,percent
+variation_id,1367,78.97169266320046
+unmatched,364,21.02830733679954
diff --git a/data/raw/clinvar_condition_labels_template.tsv b/data/raw/clinvar_condition_labels_template.tsv
new file mode 100644
index 0000000..66e7793
--- /dev/null
+++ b/data/raw/clinvar_condition_labels_template.tsv
@@ -0,0 +1,3 @@
+variation_id	clinvar_id	condition_labels
+440850	VCV000440850	Brugada syndrome; Long QT syndrome; Sudden arrhythmic death syndrome
+1325231	VCV001325231	Catecholaminergic polymorphic ventricular tachycardia; Sudden arrhythmic death syndrome
diff --git a/reports/cab_biological_regime_report.md b/reports/cab_biological_regime_report.md
index 0b0c491..2bb66d8 100644
--- a/reports/cab_biological_regime_report.md
+++ b/reports/cab_biological_regime_report.md
@@ -6,11 +6,11 @@ This report maps inherited-arrhythmia P/LP assertions into biological regimes. I
 
 ```text
             primary_regime  n_assertions   percent  n_genes  median_global_af  median_popmax_af  median_popmax_global_ratio  median_condition_entropy  median_gene_disease_validity_score  fraction_ancestry_concentrated  fraction_penetrance_boundary  fraction_sads_label dominant_phenotype_environment
-   disease_model_collision           947 54.708261       11      0.000000e+00      0.000000e+00                    1.314636                       1.0                                1.00                        0.051742                      0.052798             0.769799          provocation_dependent
-unanchored_assertion_state           650 37.550549        5      0.000000e+00      0.000000e+00                         NaN                       0.0                                1.00                        0.000000                      0.000000             0.000000                    ECG_visible
-       canonical_monogenic            92  5.314847        3      0.000000e+00      0.000000e+00                    1.000000                       0.0                                1.00                        0.000000                      0.000000             0.000000                    ECG_visible
-     ancestry_concentrated            32  1.848642        4      1.231723e-06      2.519653e-05                   21.349203                       0.0                                1.00                        1.000000                      1.000000             0.000000                    ECG_visible
-       penetrance_boundary             9  0.519931        3      3.567371e-06      7.970899e-06                    1.492795                       0.0                                1.00                        0.000000                      1.000000             0.000000                    ECG_visible
+   disease_model_collision           963 55.632582       13      0.000000e+00      0.000000e+00                    1.314628                       1.0                                1.00                        0.053998                      0.056075             0.321911          provocation_dependent
+unanchored_assertion_state           643 37.146158        7      0.000000e+00      0.000000e+00                         NaN                       0.0                                1.00                        0.000000                      0.000000             0.000000                    ECG_visible
+       canonical_monogenic            87  5.025997        4      0.000000e+00      0.000000e+00                    1.000000                       0.0                                1.00                        0.000000                      0.000000             0.000000                    ECG_visible
+     ancestry_concentrated            29  1.675332        5      1.368245e-06      2.519272e-05                   18.409635                       0.0                                1.00                        1.000000                      1.000000             0.000000                    ECG_visible
+       penetrance_boundary             8  0.462161        4      2.814423e-06      1.024079e-05                    2.252311                       0.0                                1.00                        0.000000                      1.000000             0.000000                    ECG_visible
    unknown_or_insufficient             1  0.057770        1      6.870029e-07      9.019003e-07                    1.312804                       0.0                                0.25                        0.000000                      0.000000             0.000000          provocation_dependent
 ```
 
@@ -18,12 +18,12 @@ unanchored_assertion_state           650 37.550549        5      0.000000e+00
 
 ```text
                     regime  n_in_regime  median_popmax_global_ratio_in  median_popmax_global_ratio_out  median_condition_entropy_in  median_condition_entropy_out  median_validity_score_in  median_validity_score_out  sads_label_fraction_in  sads_label_fraction_out
-       canonical_monogenic          132                       1.269639                        1.314636                          0.0                           1.0                       1.0                        1.0                0.000000                 0.455910
-     ancestry_concentrated           81                      24.206523                        1.299806                          1.0                           1.0                       1.0                        1.0                0.432099                 0.420606
-       penetrance_boundary           92                      18.127674                        1.292500                          1.0                           1.0                       1.0                        1.0                0.336957                 0.425869
-   disease_model_collision          947                       1.314636                        1.284517                          1.0                           0.0                       1.0                        1.0                0.769799                 0.000000
-            sads_sensitive          729                       1.314638                        1.313448                          2.0                           0.0                       1.0                        1.0                1.000000                 0.000000
-unanchored_assertion_state         1397                            NaN                        1.314531                          1.0                           1.0                       1.0                        1.0                0.410880                 0.464072
+       canonical_monogenic          123                       1.280065                        1.314628                          0.0                           0.0                       1.0                        1.0                0.000000                 0.192786
+     ancestry_concentrated           81                      24.206523                        1.299806                          0.0                           0.0                       1.0                        1.0                0.098765                 0.183030
+       penetrance_boundary           92                      18.127674                        1.292500                          0.0                           0.0                       1.0                        1.0                0.108696                 0.183038
+   disease_model_collision          963                       1.314628                        1.288970                          1.0                           0.0                       1.0                        1.0                0.321911                 0.000000
+            sads_sensitive          310                       1.314380                        1.314591                          2.0                           0.0                       1.0                        1.0                1.000000                 0.000000
+unanchored_assertion_state         1397                            NaN                        1.314531                          0.0                           1.0                       1.0                        1.0                0.193271                 0.119760
 ```
 
 ## Claim boundary
diff --git a/reports/cab_biological_regime_sensitivity_report.md b/reports/cab_biological_regime_sensitivity_report.md
new file mode 100644
index 0000000..77be28e
--- /dev/null
+++ b/reports/cab_biological_regime_sensitivity_report.md
@@ -0,0 +1,50 @@
+# CAB biological regime sensitivity report
+
+## Primary robustness question
+
+Do disease-model collision plus unanchored assertion states remain dominant when rule strictness is varied?
+
+## Result
+
+- Collision + unanchored remain >50% in all scenarios: True
+- Minimum collision + unanchored fraction across scenarios: 72.15%
+- Canonical monogenic remains <25% in all scenarios: False
+- Maximum canonical monogenic fraction across scenarios: 25.65%
+
+## Scenario summary
+
+```text
+                            scenario  collision_plus_unanchored_percent  canonical_monogenic_percent                 top_regime  top_regime_percent
+                            baseline                          92.778741                     5.025997    disease_model_collision           55.632582
+            ancestry_strict_ratio_20                          92.778741                     5.025997    disease_model_collision           55.632582
+            ancestry_lenient_ratio_5                          92.778741                     5.025997    disease_model_collision           55.632582
+            ancestry_min_popmax_1e_5                          92.778741                     5.025997    disease_model_collision           55.632582
+            boundary_narrow_0p5log10                          92.778741                     5.314847    disease_model_collision           55.632582
+              boundary_wide_1p5log10                          92.778741                     3.350664    disease_model_collision           55.632582
+     canonical_lenient_validity_0p25                          92.778741                     5.083767    disease_model_collision           55.632582
+      canonical_strict_validity_0p85                          92.778741                     4.910456    disease_model_collision           55.632582
+       canonical_lenient_anchor_0p45                          72.154824                    25.649913    disease_model_collision           55.632582
+          collision_no_gene_fallback                          90.583478                     6.181398 unanchored_assertion_state           45.811670
+canonical_can_coexist_with_collision                          92.778741                     5.025997    disease_model_collision           55.632582
+```
+
+## Full regime percentages by scenario
+
+```text
+                            scenario  ancestry_concentrated  canonical_monogenic  disease_model_collision  penetrance_boundary  sads_sensitive  unanchored_assertion_state  unknown_or_insufficient
+            ancestry_lenient_ratio_5               1.790872             5.025997                55.632582             0.346620         0.00000                   37.146158                  0.05777
+            ancestry_min_popmax_1e_5               1.675332             5.025997                55.632582             0.462161         0.00000                   37.146158                  0.05777
+            ancestry_strict_ratio_20               0.751011             5.025997                55.632582             1.386482         0.00000                   37.146158                  0.05777
+                            baseline               1.675332             5.025997                55.632582             0.462161         0.00000                   37.146158                  0.05777
+            boundary_narrow_0p5log10               1.675332             5.314847                55.632582             0.173310         0.00000                   37.146158                  0.05777
+              boundary_wide_1p5log10               1.675332             3.350664                55.632582             2.195263         0.00000                   37.146158                  0.00000
+canonical_can_coexist_with_collision               1.675332             5.025997                55.632582             0.462161         0.00000                   37.146158                  0.05777
+       canonical_lenient_anchor_0p45               1.675332            25.649913                55.632582             0.462161         0.00000                   16.522241                  0.05777
+     canonical_lenient_validity_0p25               1.675332             5.083767                55.632582             0.462161         0.00000                   37.146158                  0.00000
+      canonical_strict_validity_0p85               1.675332             4.910456                55.632582             0.462161         0.00000                   37.146158                  0.17331
+          collision_no_gene_fallback               2.368573             6.181398                44.771808             0.751011         0.05777                   45.811670                  0.05777
+```
+
+## Interpretation boundary
+
+This sensitivity analysis is designed to test robustness, not to tune the preferred result. The manuscript-facing claim should use the baseline run as the primary estimate and this file only to show that the dominant biological architecture is not an artifact of a single arbitrary threshold.
diff --git a/reports/cab_condition_label_join_report.md b/reports/cab_condition_label_join_report.md
new file mode 100644
index 0000000..58db0c5
--- /dev/null
+++ b/reports/cab_condition_label_join_report.md
@@ -0,0 +1,28 @@
+# CAB condition-label join report
+
+## Input
+
+- Assertion table: `data\processed\arrhythmia_vital_scores.csv`
+- ClinVar condition source: `data\raw\clinvar_condition_labels.tsv`
+- Condition lookup rows after collapse: 2,734
+
+## Join result
+
+- Assertions: 1,731
+- Matched condition labels: 1,367 (78.97%)
+- Unmatched assertions: 364
+
+## Join source counts
+
+```text
+condition_label_join_source  n_assertions   percent
+               variation_id          1367 78.971693
+                  unmatched           364 21.028307
+```
+
+## Next commands
+
+```bash
+python src/run_cab_biological_regime_map.py --input data/processed/arrhythmia_vital_scores_with_conditions.csv
+python src/run_cab_regime_sensitivity.py --input data/processed/arrhythmia_vital_scores_with_conditions.csv
+```
diff --git a/reports/cab_full_condition_analysis_report.md b/reports/cab_full_condition_analysis_report.md
new file mode 100644
index 0000000..fc9f8ca
--- /dev/null
+++ b/reports/cab_full_condition_analysis_report.md
@@ -0,0 +1,52 @@
+# CAB full condition-label analysis report
+
+## ClinVar condition extraction
+
+- ClinVar source file: `data\raw\variant_summary_2026-04.txt.gz`
+- Download forced: False
+- Extracted condition labels for target VariationIDs: 1,367
+- Output: `data\raw\clinvar_condition_labels.tsv`
+
+## Join result
+
+```text
+condition_label_join_source  n_assertions   percent
+               variation_id          1367 78.971693
+                  unmatched           364 21.028307
+```
+
+Matched assertions: 1,367 / 1,731 (78.97%).
+
+## Regime distribution after condition-label join
+
+```text
+            primary_regime  n_assertions   percent  n_genes  median_global_af  median_popmax_af  median_popmax_global_ratio  median_condition_entropy  median_gene_disease_validity_score  fraction_ancestry_concentrated  fraction_penetrance_boundary  fraction_sads_label dominant_phenotype_environment
+   disease_model_collision           963 55.632582       13      0.000000e+00      0.000000e+00                    1.314628                       1.0                                1.00                        0.053998                      0.056075             0.321911          provocation_dependent
+unanchored_assertion_state           643 37.146158        7      0.000000e+00      0.000000e+00                         NaN                       0.0                                1.00                        0.000000                      0.000000             0.000000                    ECG_visible
+       canonical_monogenic            87  5.025997        4      0.000000e+00      0.000000e+00                    1.000000                       0.0                                1.00                        0.000000                      0.000000             0.000000                    ECG_visible
+     ancestry_concentrated            29  1.675332        5      1.368245e-06      2.519272e-05                   18.409635                       0.0                                1.00                        1.000000                      1.000000             0.000000                    ECG_visible
+       penetrance_boundary             8  0.462161        4      2.814423e-06      1.024079e-05                    2.252311                       0.0                                1.00                        0.000000                      1.000000             0.000000                    ECG_visible
+   unknown_or_insufficient             1  0.057770        1      6.870029e-07      9.019003e-07                    1.312804                       0.0                                0.25                        0.000000                      0.000000             0.000000          provocation_dependent
+```
+
+## Sensitivity result after condition-label join
+
+- Baseline collision + unanchored: 92.78%
+- Baseline canonical monogenic: 5.03%
+- Minimum collision + unanchored across scenarios: 72.15%
+- Maximum canonical monogenic across scenarios: 25.65%
+
+```text
+                            scenario  collision_plus_unanchored_percent  canonical_monogenic_percent                 top_regime  top_regime_percent
+                            baseline                          92.778741                     5.025997    disease_model_collision           55.632582
+            ancestry_strict_ratio_20                          92.778741                     5.025997    disease_model_collision           55.632582
+            ancestry_lenient_ratio_5                          92.778741                     5.025997    disease_model_collision           55.632582
+            ancestry_min_popmax_1e_5                          92.778741                     5.025997    disease_model_collision           55.632582
+            boundary_narrow_0p5log10                          92.778741                     5.314847    disease_model_collision           55.632582
+              boundary_wide_1p5log10                          92.778741                     3.350664    disease_model_collision           55.632582
+     canonical_lenient_validity_0p25                          92.778741                     5.083767    disease_model_collision           55.632582
+      canonical_strict_validity_0p85                          92.778741                     4.910456    disease_model_collision           55.632582
+       canonical_lenient_anchor_0p45                          72.154824                    25.649913    disease_model_collision           55.632582
+          collision_no_gene_fallback                          90.583478                     6.181398 unanchored_assertion_state           45.811670
+canonical_can_coexist_with_collision                          92.778741                     5.025997    disease_model_collision           55.632582
+```
diff --git a/src/run_cab_condition_label_join.py b/src/run_cab_condition_label_join.py
new file mode 100644
index 0000000..641ca43
--- /dev/null
+++ b/src/run_cab_condition_label_join.py
@@ -0,0 +1,364 @@
+from __future__ import annotations
+
+"""Join ClinVar condition labels into CAB arrhythmia assertion table.
+
+The CAB biological regime map is strongest when disease-model collision is
+measured from assertion-level condition labels rather than gene-level fallback.
+This script joins local ClinVar-derived condition labels to
+`data/processed/arrhythmia_vital_scores.csv` using stable identifiers such as
+variation_id / VariationID / clinvar_id / VCV.
+
+It deliberately does not download ClinVar. Place a local ClinVar-derived file in
+`data/raw/` and rerun. Yes, manual data plumbing, the ancient tax humans pay for
+using public biomedical infrastructure.
+"""
+
+from pathlib import Path
+import argparse
+import gzip
+import re
+from typing import Iterable
+
+import pandas as pd
+
+BASE_DIR = Path(__file__).resolve().parents[1]
+RAW_DIR = BASE_DIR / "data" / "raw"
+PROCESSED_DIR = BASE_DIR / "data" / "processed"
+REPORT_DIR = BASE_DIR / "reports"
+
+DEFAULT_ASSERTIONS = PROCESSED_DIR / "arrhythmia_vital_scores.csv"
+DEFAULT_OUTPUT = PROCESSED_DIR / "arrhythmia_vital_scores_with_conditions.csv"
+LABEL_SUMMARY_OUT = PROCESSED_DIR / "cab_condition_label_join_summary.csv"
+REPORT_OUT = REPORT_DIR / "cab_condition_label_join_report.md"
+TEMPLATE_OUT = RAW_DIR / "clinvar_condition_labels_template.tsv"
+
+CANDIDATE_RAW_FILES = (
+    "clinvar_condition_labels.tsv",
+    "clinvar_current.tsv",
+    "clinvar_variant_summary.txt",
+    "variant_summary.txt",
+    "variant_summary.txt.gz",
+    "clinvar.vcf",
+    "clinvar.vcf.gz",
+    "clinvar_current.vcf",
+    "clinvar_current.vcf.gz",
+)
+
+ASSERTION_ID_COLUMNS = ("variation_id", "VariationID", "clinvar_variation_id", "VariationId")
+ASSERTION_VCV_COLUMNS = ("clinvar_id", "clinvar_vcv", "VCV", "vcv")
+CONDITION_COLUMNS = (
+    "condition_labels",
+    "condition_label",
+    "conditions",
+    "condition",
+    "PhenotypeList",
+    "phenotype_list",
+    "trait_set",
+    "trait",
+    "disease",
+    "disease_label",
+    "Name",
+)
+RAW_ID_COLUMNS = ("variation_id", "VariationID", "VariationID_from_CLNDISDB", "VariationId", "#VariationID")
+RAW_VCV_COLUMNS = ("clinvar_id", "VCV", "vcv", "VariationID", "VariationId")
+
+
+def read_table(path: Path) -> pd.DataFrame:
+    suffixes = "".join(path.suffixes).lower()
+    compression = "gzip" if suffixes.endswith(".gz") else None
+    if path.name.endswith(".csv"):
+        return pd.read_csv(path, compression=compression, low_memory=False)
+    return pd.read_csv(path, sep="\t", compression=compression, low_memory=False)
+
+
+def parse_vcv(value: object) -> str | None:
+    if value is None or pd.isna(value):
+        return None
+    text = str(value).strip()
+    match = re.search(r"VCV0*([0-9]+)", text, flags=re.IGNORECASE)
+    if match:
+        return str(int(match.group(1)))
+    if text.isdigit():
+        return str(int(text))
+    return None
+
+
+def normalize_id(value: object) -> str | None:
+    if value is None or pd.isna(value):
+        return None
+    text = str(value).strip()
+    if not text:
+        return None
+    match = re.search(r"([0-9]+)", text)
+    if not match:
+        return None
+    return str(int(match.group(1)))
+
+
+def first_present(columns: Iterable[str], frame: pd.DataFrame) -> str | None:
+    for column in columns:
+        if column in frame.columns:
+            return column
+    return None
+
+
+def clean_condition_label(value: object) -> str:
+    if value is None or pd.isna(value):
+        return ""
+    text = str(value).strip()
+    text = text.replace("not provided", "")
+    text = text.replace("not specified", "")
+    text = re.sub(r"\s+", " ", text)
+    return text.strip(" ;|")
+
+
+def detect_condition_column(frame: pd.DataFrame) -> str | None:
+    return first_present(CONDITION_COLUMNS, frame)
+
+
+def find_raw_condition_file(explicit: Path | None = None) -> Path | None:
+    if explicit is not None:
+        return explicit if explicit.exists() else None
+    for name in CANDIDATE_RAW_FILES:
+        path = RAW_DIR / name
+        if path.exists():
+            return path
+    return None
+
+
+def load_condition_table(path: Path) -> pd.DataFrame:
+    if path.suffix.lower() in {".vcf"} or "vcf" in path.name.lower():
+        return load_condition_table_from_vcf(path)
+    raw = read_table(path)
+    condition_col = detect_condition_column(raw)
+    if condition_col is None:
+        raise ValueError(
+            f"No recognizable condition label column in {path}. "
+            f"Expected one of: {', '.join(CONDITION_COLUMNS)}"
+        )
+    id_col = first_present(RAW_ID_COLUMNS, raw)
+    vcv_col = first_present(RAW_VCV_COLUMNS, raw)
+    if id_col is None and vcv_col is None:
+        raise ValueError(
+            f"No recognizable VariationID/VCV column in {path}. "
+            f"Expected one of: {', '.join(RAW_ID_COLUMNS + RAW_VCV_COLUMNS)}"
+        )
+    out = pd.DataFrame()
+    if id_col is not None:
+        out["variation_id_key"] = raw[id_col].map(normalize_id)
+    else:
+        out["variation_id_key"] = None
+    if vcv_col is not None:
+        out["vcv_key"] = raw[vcv_col].map(parse_vcv)
+    else:
+        out["vcv_key"] = None
+    out["condition_labels_joined"] = raw[condition_col].map(clean_condition_label)
+    out = out[out["condition_labels_joined"].ne("")].copy()
+    out = collapse_condition_table(out)
+    return out
+
+
+def load_condition_table_from_vcf(path: Path) -> pd.DataFrame:
+    opener = gzip.open if path.name.endswith(".gz") else open
+    rows = []
+    with opener(path, "rt", encoding="utf-8", errors="replace") as handle:
+        for line in handle:
+            if not line or line.startswith("#"):
+                continue
+            parts = line.rstrip("\n").split("\t")
+            if len(parts) < 8:
+                continue
+            info = parts[7]
+            variation_id = None
+            vcv = None
+            condition = ""
+            for field in info.split(";"):
+                if "=" not in field:
+                    continue
+                key, value = field.split("=", 1)
+                if key in {"ALLELEID", "VariationID", "VariationId"}:
+                    variation_id = normalize_id(value)
+                elif key in {"CLNVC", "VCV"}:
+                    vcv = parse_vcv(value)
+                elif key in {"CLNDN", "CLNDNINCL", "CLNDBN"}:
+                    condition = clean_condition_label(value.replace("_", " ").replace("|", ";"))
+            if variation_id or vcv or condition:
+                rows.append({"variation_id_key": variation_id, "vcv_key": vcv, "condition_labels_joined": condition})
+    if not rows:
+        raise ValueError(f"No parsable ClinVar condition labels found in VCF: {path}")
+    return collapse_condition_table(pd.DataFrame(rows))
+
+
+def collapse_condition_table(frame: pd.DataFrame) -> pd.DataFrame:
+    parts = []
+    for key_col in ["variation_id_key", "vcv_key"]:
+        subset = frame.dropna(subset=[key_col]).copy()
+        if subset.empty:
+            continue
+        collapsed = (
+            subset.groupby(key_col)["condition_labels_joined"]
+            .apply(lambda values: "; ".join(sorted({v for v in values if str(v).strip()})))
+            .reset_index()
+        )
+        collapsed["join_key_type"] = key_col
+        collapsed = collapsed.rename(columns={key_col: "join_key"})
+        parts.append(collapsed)
+    if not parts:
+        return pd.DataFrame(columns=["join_key", "condition_labels_joined", "join_key_type"])
+    return pd.concat(parts, ignore_index=True).drop_duplicates()
+
+
+def build_assertion_keys(assertions: pd.DataFrame) -> pd.DataFrame:
+    out = assertions.copy()
+    id_col = first_present(ASSERTION_ID_COLUMNS, out)
+    vcv_col = first_present(ASSERTION_VCV_COLUMNS, out)
+    if id_col is not None:
+        out["variation_id_key"] = out[id_col].map(normalize_id)
+    else:
+        out["variation_id_key"] = None
+    if vcv_col is not None:
+        out["vcv_key"] = out[vcv_col].map(parse_vcv)
+    else:
+        out["vcv_key"] = None
+    return out
+
+
+def join_conditions(assertions: pd.DataFrame, condition_table: pd.DataFrame) -> pd.DataFrame:
+    left = build_assertion_keys(assertions)
+    by_variation = condition_table[condition_table["join_key_type"].eq("variation_id_key")][
+        ["join_key", "condition_labels_joined"]
+    ].rename(columns={"join_key": "variation_id_key", "condition_labels_joined": "condition_from_variation_id"})
+    by_vcv = condition_table[condition_table["join_key_type"].eq("vcv_key")][
+        ["join_key", "condition_labels_joined"]
+    ].rename(columns={"join_key": "vcv_key", "condition_labels_joined": "condition_from_vcv"})
+    out = left.merge(by_variation, on="variation_id_key", how="left")
+    out = out.merge(by_vcv, on="vcv_key", how="left")
+    out["condition_labels"] = out["condition_from_variation_id"].fillna(out["condition_from_vcv"]).fillna("")
+    out["condition_label_join_source"] = "unmatched"
+    out.loc[out["condition_from_vcv"].notna(), "condition_label_join_source"] = "vcv"
+    out.loc[out["condition_from_variation_id"].notna(), "condition_label_join_source"] = "variation_id"
+    return out
+
+
+def write_template() -> None:
+    RAW_DIR.mkdir(parents=True, exist_ok=True)
+    if TEMPLATE_OUT.exists():
+        return
+    pd.DataFrame(
+        [
+            {
+                "variation_id": "440850",
+                "clinvar_id": "VCV000440850",
+                "condition_labels": "Brugada syndrome; Long QT syndrome; Sudden arrhythmic death syndrome",
+            }
+        ]
+    ).to_csv(TEMPLATE_OUT, sep="\t", index=False)
+
+
+def write_missing_report(assertions: pd.DataFrame, path: Path) -> None:
+    REPORT_DIR.mkdir(parents=True, exist_ok=True)
+    write_template()
+    text = f"""# CAB condition-label join report
+
+No local ClinVar condition-label file was found in `data/raw/`.
+
+The current CAB table has {len(assertions):,} assertions. To replace gene-level fallback with assertion-level disease labels, place one of the following files in `data/raw/`:
+
+- `clinvar_condition_labels.tsv`
+- `clinvar_current.tsv`
+- `clinvar_variant_summary.txt`
+- `variant_summary.txt` or `variant_summary.txt.gz`
+- `clinvar.vcf` or `clinvar.vcf.gz`
+
+A minimal template was written to:
+
+```text
+{TEMPLATE_OUT.relative_to(BASE_DIR)}
+```
+
+Required columns for the simplest TSV route:
+
+```text
+variation_id    clinvar_id    condition_labels
+```
+
+Then run:
+
+```bash
+python src/run_cab_condition_label_join.py
+python src/run_cab_biological_regime_map.py --input data/processed/arrhythmia_vital_scores_with_conditions.csv
+python src/run_cab_regime_sensitivity.py --input data/processed/arrhythmia_vital_scores_with_conditions.csv
+```
+"""
+    path.write_text(text, encoding="utf-8")
+
+
+def write_join_report(joined: pd.DataFrame, raw_path: Path, condition_table: pd.DataFrame, path: Path) -> pd.DataFrame:
+    REPORT_DIR.mkdir(parents=True, exist_ok=True)
+    total = len(joined)
+    matched = int(joined["condition_labels"].ne("").sum())
+    source_counts = joined["condition_label_join_source"].value_counts(dropna=False).reset_index()
+    source_counts.columns = ["condition_label_join_source", "n_assertions"]
+    source_counts["percent"] = 100.0 * source_counts["n_assertions"] / total if total else 0.0
+    source_counts.to_csv(LABEL_SUMMARY_OUT, index=False)
+    text = f"""# CAB condition-label join report
+
+## Input
+
+- Assertion table: `{DEFAULT_ASSERTIONS.relative_to(BASE_DIR)}`
+- ClinVar condition source: `{raw_path.relative_to(BASE_DIR)}`
+- Condition lookup rows after collapse: {len(condition_table):,}
+
+## Join result
+
+- Assertions: {total:,}
+- Matched condition labels: {matched:,} ({(100.0 * matched / total if total else 0.0):.2f}%)
+- Unmatched assertions: {total - matched:,}
+
+## Join source counts
+
+```text
+{source_counts.to_string(index=False)}
+```
+
+## Next commands
+
+```bash
+python src/run_cab_biological_regime_map.py --input data/processed/arrhythmia_vital_scores_with_conditions.csv
+python src/run_cab_regime_sensitivity.py --input data/processed/arrhythmia_vital_scores_with_conditions.csv
+```
+"""
+    path.write_text(text, encoding="utf-8")
+    return source_counts
+
+
+def main() -> None:
+    parser = argparse.ArgumentParser(description="Join ClinVar condition labels into CAB assertion table.")
+    parser.add_argument("--assertions", type=Path, default=DEFAULT_ASSERTIONS)
+    parser.add_argument("--clinvar", type=Path, default=None)
+    parser.add_argument("--output", type=Path, default=DEFAULT_OUTPUT)
+    args = parser.parse_args()
+
+    if not args.assertions.exists():
+        raise FileNotFoundError(f"Assertion table not found: {args.assertions}")
+    assertions = pd.read_csv(args.assertions, low_memory=False)
+    raw_path = find_raw_condition_file(args.clinvar)
+    if raw_path is None:
+        write_missing_report(assertions, REPORT_OUT)
+        print(f"No local ClinVar condition-label file found. Wrote {REPORT_OUT.relative_to(BASE_DIR)}")
+        print(f"Template: {TEMPLATE_OUT.relative_to(BASE_DIR)}")
+        return
+
+    condition_table = load_condition_table(raw_path)
+    joined = join_conditions(assertions, condition_table)
+    args.output.parent.mkdir(parents=True, exist_ok=True)
+    joined.to_csv(args.output, index=False)
+    write_join_report(joined, raw_path, condition_table, REPORT_OUT)
+    print(f"wrote {args.output.relative_to(BASE_DIR)}")
+    print(f"wrote {LABEL_SUMMARY_OUT.relative_to(BASE_DIR)}")
+    print(f"wrote {REPORT_OUT.relative_to(BASE_DIR)}")
+    print(joined["condition_label_join_source"].value_counts(dropna=False).to_string())
+
+
+if __name__ == "__main__":
+    main()
diff --git a/src/run_cab_full_condition_analysis.py b/src/run_cab_full_condition_analysis.py
new file mode 100644
index 0000000..663bacd
--- /dev/null
+++ b/src/run_cab_full_condition_analysis.py
@@ -0,0 +1,262 @@
+from __future__ import annotations
+
+"""Full CAB condition-label analysis runner.
+
+This script performs the next manuscript-critical analysis in one command:
+
+1. Use a local ClinVar `variant_summary.txt` or `variant_summary.txt.gz` if present,
+   otherwise download the official gzipped ClinVar summary only when allowed.
+2. Extract condition labels for the arrhythmia assertion `variation_id` values.
+3. Write `data/raw/clinvar_condition_labels.tsv`.
+4. Join labels into `arrhythmia_vital_scores_with_conditions.csv`.
+5. Rerun biological regime mapping using assertion-level labels.
+6. Rerun sensitivity analysis using assertion-level labels.
+
+The goal is to replace gene-level fallback disease-model collision with
+assertion-level condition-label evidence wherever ClinVar provides it.
+"""
+
+from pathlib import Path
+import argparse
+import gzip
+import shutil
+import subprocess
+import sys
+import time
+import urllib.request
+
+import pandas as pd
+
+BASE_DIR = Path(__file__).resolve().parents[1]
+RAW_DIR = BASE_DIR / "data" / "raw"
+PROCESSED_DIR = BASE_DIR / "data" / "processed"
+REPORT_DIR = BASE_DIR / "reports"
+
+ASSERTION_TABLE = PROCESSED_DIR / "arrhythmia_vital_scores.csv"
+VARIANT_SUMMARY_TXT = RAW_DIR / "variant_summary.txt"
+VARIANT_SUMMARY_GZ = RAW_DIR / "variant_summary.txt.gz"
+CONDITION_TSV = RAW_DIR / "clinvar_condition_labels.tsv"
+JOINED_ASSERTION_TABLE = PROCESSED_DIR / "arrhythmia_vital_scores_with_conditions.csv"
+REPORT_OUT = REPORT_DIR / "cab_full_condition_analysis_report.md"
+
+CLINVAR_VARIANT_SUMMARY_URL = "https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/variant_summary.txt.gz"
+
+
+def normalize_id(value: object) -> str | None:
+    if value is None or pd.isna(value):
+        return None
+    text = str(value).strip()
+    if not text:
+        return None
+    try:
+        return str(int(float(text)))
+    except ValueError:
+        import re
+        match = re.search(r"([0-9]+)", text)
+        return str(int(match.group(1))) if match else None
+
+
+def resolve_variant_summary(
+    force_download: bool = False,
+    no_download: bool = False,
+    explicit_path: Path | None = None,
+) -> Path:
+    """Resolve the ClinVar variant summary file.
+
+    Priority:
+    1. --variant-summary explicit path
+    2. data/raw/variant_summary.txt
+    3. data/raw/variant_summary.txt.gz
+    4. download gz only if downloads are allowed
+    """
+    RAW_DIR.mkdir(parents=True, exist_ok=True)
+    candidates: list[Path] = []
+    if explicit_path is not None:
+        candidates.append(explicit_path)
+    candidates.extend([VARIANT_SUMMARY_TXT, VARIANT_SUMMARY_GZ])
+
+    if not force_download:
+        for candidate in candidates:
+            if candidate.exists() and candidate.stat().st_size > 0:
+                print(f"Using existing {candidate.relative_to(BASE_DIR)} ({candidate.stat().st_size / 1e6:.1f} MB)")
+                return candidate
+
+    if no_download:
+        checked = ", ".join(str(p) for p in candidates)
+        raise FileNotFoundError(
+            "No usable local ClinVar variant_summary file found and --no-download was set. "
+            f"Checked: {checked}"
+        )
+
+    download_file(CLINVAR_VARIANT_SUMMARY_URL, VARIANT_SUMMARY_GZ, force=True)
+    return VARIANT_SUMMARY_GZ
+
+
+def open_variant_summary(path: Path):
+    if path.name.endswith(".gz"):
+        return gzip.open(path, "rt", encoding="utf-8", errors="replace")
+    return open(path, "r", encoding="utf-8", errors="replace")
+
+
+def download_file(url: str, output: Path, force: bool = False) -> None:
+    output.parent.mkdir(parents=True, exist_ok=True)
+    if output.exists() and output.stat().st_size > 0 and not force:
+        print(f"Using existing {output.relative_to(BASE_DIR)} ({output.stat().st_size / 1e6:.1f} MB)")
+        return
+    tmp = output.with_suffix(output.suffix + ".tmp")
+    print(f"Downloading {url}")
+    print(f"to {output.relative_to(BASE_DIR)}")
+    started = time.time()
+    with urllib.request.urlopen(url, timeout=120) as response, tmp.open("wb") as handle:
+        shutil.copyfileobj(response, handle)
+    tmp.replace(output)
+    elapsed = time.time() - started
+    size_mb = output.stat().st_size / 1e6
+    print(f"Downloaded {size_mb:.1f} MB in {elapsed:.1f}s")
+    if output.stat().st_size < 1_000_000:
+        raise RuntimeError(f"Downloaded file is unexpectedly small: {output}")
+
+
+def get_target_variation_ids(assertion_table: Path) -> set[str]:
+    assertions = pd.read_csv(assertion_table, usecols=["variation_id"], low_memory=False)
+    ids = {v for v in assertions["variation_id"].map(normalize_id).dropna()}
+    if not ids:
+        raise RuntimeError("No variation_id values found in assertion table.")
+    print(f"Target variation IDs: {len(ids):,}")
+    return ids
+
+
+def extract_condition_labels(variant_summary: Path, target_ids: set[str], output_tsv: Path) -> pd.DataFrame:
+    print("Extracting ClinVar condition labels for target VariationIDs...")
+    rows: list[dict[str, str]] = []
+    chunksize = 200_000
+    usecols = ["VariationID", "Name", "GeneSymbol", "ClinicalSignificance", "PhenotypeList"]
+    with open_variant_summary(variant_summary) as handle:
+        for chunk in pd.read_csv(handle, sep="\t", usecols=lambda c: c in usecols, chunksize=chunksize, low_memory=False):
+            if "VariationID" not in chunk.columns:
+                raise RuntimeError("variant_summary lacks VariationID column.")
+            chunk["variation_id_norm"] = chunk["VariationID"].map(normalize_id)
+            subset = chunk[chunk["variation_id_norm"].isin(target_ids)].copy()
+            if subset.empty:
+                continue
+            for _, row in subset.iterrows():
+                variation_id = normalize_id(row.get("VariationID"))
+                condition = str(row.get("PhenotypeList", "")).strip()
+                condition = condition.replace("not provided", "").replace("not specified", "").strip(" ;|")
+                if not variation_id or not condition:
+                    continue
+                rows.append(
+                    {
+                        "variation_id": variation_id,
+                        "clinvar_id": f"VCV{int(variation_id):09d}",
+                        "condition_labels": condition,
+                        "gene_symbol_from_clinvar": str(row.get("GeneSymbol", "")),
+                        "clinical_significance_from_clinvar": str(row.get("ClinicalSignificance", "")),
+                        "clinvar_name": str(row.get("Name", "")),
+                    }
+                )
+    if not rows:
+        raise RuntimeError("No condition labels matched target variation IDs in ClinVar variant_summary.")
+    labels = pd.DataFrame(rows)
+    collapsed = (
+        labels.groupby(["variation_id", "clinvar_id"], as_index=False)
+        .agg(
+            condition_labels=("condition_labels", lambda x: "; ".join(sorted({v for v in x if str(v).strip()}))),
+            gene_symbol_from_clinvar=("gene_symbol_from_clinvar", lambda x: "; ".join(sorted({v for v in x if str(v).strip()}))),
+            clinical_significance_from_clinvar=("clinical_significance_from_clinvar", lambda x: "; ".join(sorted({v for v in x if str(v).strip()}))),
+            clinvar_name=("clinvar_name", lambda x: "; ".join(sorted({v for v in x if str(v).strip()}))),
+        )
+    )
+    output_tsv.parent.mkdir(parents=True, exist_ok=True)
+    collapsed.to_csv(output_tsv, sep="\t", index=False)
+    print(f"Wrote {output_tsv.relative_to(BASE_DIR)} with {len(collapsed):,} matched VariationIDs")
+    return collapsed
+
+
+def run_command(args: list[str]) -> None:
+    print("\n$ " + " ".join(args))
+    subprocess.run(args, cwd=BASE_DIR, check=True)
+
+
+def read_summary(path: Path) -> pd.DataFrame:
+    if not path.exists():
+        raise FileNotFoundError(path)
+    return pd.read_csv(path)
+
+
+def write_report(condition_labels: pd.DataFrame, variant_summary: Path, force_download: bool) -> None:
+    REPORT_DIR.mkdir(parents=True, exist_ok=True)
+    join_summary = read_summary(PROCESSED_DIR / "cab_condition_label_join_summary.csv")
+    regime_summary = read_summary(PROCESSED_DIR / "cab_biological_regime_summary.csv")
+    sensitivity = read_summary(PROCESSED_DIR / "cab_biological_regime_sensitivity.csv")
+    matched_join = join_summary[join_summary["condition_label_join_source"].ne("unmatched")]["n_assertions"].sum()
+    total_join = join_summary["n_assertions"].sum()
+    baseline = sensitivity[sensitivity["scenario"].eq("baseline")].iloc[0]
+    min_pair = sensitivity["collision_plus_unanchored_percent"].min()
+    max_canonical = sensitivity["canonical_monogenic_percent"].max()
+    text = f"""# CAB full condition-label analysis report
+
+## ClinVar condition extraction
+
+- ClinVar source file: `{variant_summary.relative_to(BASE_DIR)}`
+- Download forced: {force_download}
+- Extracted condition labels for target VariationIDs: {len(condition_labels):,}
+- Output: `{CONDITION_TSV.relative_to(BASE_DIR)}`
+
+## Join result
+
+```text
+{join_summary.to_string(index=False)}
+```
+
+Matched assertions: {int(matched_join):,} / {int(total_join):,} ({(100.0 * matched_join / total_join if total_join else 0.0):.2f}%).
+
+## Regime distribution after condition-label join
+
+```text
+{regime_summary.to_string(index=False)}
+```
+
+## Sensitivity result after condition-label join
+
+- Baseline collision + unanchored: {baseline['collision_plus_unanchored_percent']:.2f}%
+- Baseline canonical monogenic: {baseline['canonical_monogenic_percent']:.2f}%
+- Minimum collision + unanchored across scenarios: {min_pair:.2f}%
+- Maximum canonical monogenic across scenarios: {max_canonical:.2f}%
+
+```text
+{sensitivity[['scenario', 'collision_plus_unanchored_percent', 'canonical_monogenic_percent', 'top_regime', 'top_regime_percent']].to_string(index=False)}
+```
+"""
+    REPORT_OUT.write_text(text, encoding="utf-8")
+    print(f"Wrote {REPORT_OUT.relative_to(BASE_DIR)}")
+
+
+def main() -> None:
+    parser = argparse.ArgumentParser(description="Run full CAB analysis with real ClinVar condition labels.")
+    parser.add_argument("--force-download", action="store_true", help="Re-download ClinVar variant_summary.txt.gz")
+    parser.add_argument("--no-download", action="store_true", help="Fail instead of downloading if no local variant_summary is found")
+    parser.add_argument("--variant-summary", type=Path, default=None, help="Explicit local ClinVar variant_summary.txt or .txt.gz path")
+    args = parser.parse_args()
+
+    if not ASSERTION_TABLE.exists():
+        raise FileNotFoundError(f"Missing assertion table: {ASSERTION_TABLE}")
+
+    target_ids = get_target_variation_ids(ASSERTION_TABLE)
+    variant_summary = resolve_variant_summary(
+        force_download=args.force_download,
+        no_download=args.no_download,
+        explicit_path=args.variant_summary,
+    )
+    condition_labels = extract_condition_labels(variant_summary, target_ids, CONDITION_TSV)
+
+    run_command([sys.executable, "src/run_cab_condition_label_join.py"])
+    run_command([sys.executable, "src/run_cab_biological_regime_map.py", "--input", str(JOINED_ASSERTION_TABLE)])
+    run_command([sys.executable, "src/run_cab_regime_sensitivity.py", "--input", str(JOINED_ASSERTION_TABLE)])
+
+    write_report(condition_labels, variant_summary, args.force_download)
+    print("\nFull condition-label CAB analysis complete.")
+
+
+if __name__ == "__main__":
+    main()