From 9034676d31d40a5a08901d68b7afe8c7917b01ce Mon Sep 17 00:00:00 2001 From: Anere Cye Date: Sun, 3 May 2026 01:48:20 +0500 Subject: [PATCH 1/9] Add CAB clinical inference environment reference table --- data/reference/cab_clinical_inference_environments.tsv | 10 ++++++++++ 1 file changed, 10 insertions(+) create mode 100644 data/reference/cab_clinical_inference_environments.tsv diff --git a/data/reference/cab_clinical_inference_environments.tsv b/data/reference/cab_clinical_inference_environments.tsv new file mode 100644 index 0000000..7f5c2b2 --- /dev/null +++ b/data/reference/cab_clinical_inference_environments.tsv @@ -0,0 +1,10 @@ +disease_group primary_phenotype_tool inference_mode diagnostic_framework genotype_role cab_interpretation +LQTS ECG/QTc; Schwartz score components; exercise recovery QTc phenotype-first with genotype support Schwartz score / LQTS diagnostic scoring Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history ECG-anchored monogenic or boundary-sensitive assertion context +Brugada Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring context/provocation-dependent Brugada diagnostic criteria / Shanghai score logic Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central Provocation-dependent and model-collision-prone assertion context +CPVT exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia provocation-dependent CPVT clinical diagnostic logic Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent Stress-provoked genotype-phenotype assertion context +SQTS ECG QT shortening; clinical/family context phenotype-first with genotype support Short QT diagnostic logic Genotype supports but does not replace ECG-defined repolarization phenotype ECG-anchored rare assertion context +cardiomyopathy_overlap Cardiac MRI/echo; ECG; ventricular arrhythmia burden; family/genetic criteria structural-electrical hybrid ARVC 2010 Task Force / 2020 Padua criteria logic Genotype is one diagnostic category among structural, ECG, arrhythmia, and family criteria Mixed substrate and disease-model collision assertion context +SADS Postmortem absence of explanatory phenotype; family cascade; molecular autopsy genotype-first/postmortem SADS/SUDS molecular autopsy context Genotype may be asked to substitute for absent phenotype SADS-sensitive assertion context where phenotype absence is defining +conduction ECG conduction intervals; rhythm monitoring; family history intermittent/electrical phenotype Conduction disease clinical evaluation Genotype supports conduction-system disease but penetrance and expressivity vary Intermittent electrical assertion context +arrhythmia ECG/Holter/patch monitoring; episode burden; clinical context intermittent rhythm phenotype General arrhythmia clinical evaluation Genotype is contextual and often insufficient alone Nonspecific/intermittent assertion context +unknown Not mapped unknown Not mapped Unknown Unmapped clinical inference context From fff0342eac427da2102829cb49c24557cbdcc9a4 Mon Sep 17 00:00:00 2001 From: Anere Cye Date: Sun, 3 May 2026 01:52:56 +0500 Subject: [PATCH 2/9] Add clinical inference overlay for CAB regimes --- src/run_cab_clinical_inference_overlay.py | 205 ++++++++++++++++++++++ 1 file changed, 205 insertions(+) create mode 100644 src/run_cab_clinical_inference_overlay.py diff --git a/src/run_cab_clinical_inference_overlay.py b/src/run_cab_clinical_inference_overlay.py new file mode 100644 index 0000000..c74bc91 --- /dev/null +++ b/src/run_cab_clinical_inference_overlay.py @@ -0,0 +1,205 @@ +from __future__ import annotations + +"""Clinical inference-environment overlay for CAB biological regimes. + +This layer implements the missing clinical diagnostic-context piece: +LQTS, Brugada, CPVT, ARVC/cardiomyopathy overlap, SADS, conduction disease, +and nonspecific arrhythmia are not treated as interchangeable condition labels. +They are different phenotype-inference environments. + +The script joins a curated reference table to CAB regime assignments and produces +summary tables showing how regime architecture changes across phenotype-first, +provocation-dependent, structural-electrical, intermittent, and genotype-first +SADS contexts. +""" + +from pathlib import Path +import argparse +import re + +import pandas as pd + +BASE_DIR = Path(__file__).resolve().parents[1] +DATA_DIR = BASE_DIR / "data" / "processed" +REF_DIR = BASE_DIR / "data" / "reference" +REPORT_DIR = BASE_DIR / "reports" + +DEFAULT_ASSIGNMENTS = DATA_DIR / "cab_biological_regime_assignments.csv" +REFERENCE = REF_DIR / "cab_clinical_inference_environments.tsv" +OVERLAY_OUT = DATA_DIR / "cab_clinical_inference_overlay.csv" +SUMMARY_OUT = DATA_DIR / "cab_clinical_inference_summary.csv" +REGIME_BY_ENV_OUT = DATA_DIR / "cab_regime_by_clinical_environment.csv" +REPORT_OUT = REPORT_DIR / "cab_clinical_inference_overlay_report.md" + +DISEASE_PRIORITY = [ + "SADS", + "cardiomyopathy_overlap", + "CPVT", + "Brugada", + "LQTS", + "SQTS", + "conduction", + "arrhythmia", + "unknown", +] + + +def split_groups(value: object) -> list[str]: + if value is None or pd.isna(value): + return [] + return [part.strip() for part in str(value).split("|") if part.strip()] + + +def infer_primary_disease_group(groups: list[str]) -> str: + group_set = set(groups) + for group in DISEASE_PRIORITY: + if group in group_set: + return group + return groups[0] if groups else "unknown" + + +def phenotype_anchoring_score(row: pd.Series) -> float: + mode = str(row.get("inference_mode", "")).lower() + tool = str(row.get("primary_phenotype_tool", "")).lower() + if "genotype-first" in mode or "postmortem" in mode: + return 0.2 + if "structural-electrical" in mode: + return 0.75 + if "provocation" in mode: + return 0.65 + if "phenotype-first" in mode: + return 0.9 + if "intermittent" in mode: + return 0.55 + if "ecg" in tool or "mri" in tool or "echo" in tool: + return 0.6 + return 0.0 + + +def genotype_substitution_score(row: pd.Series) -> float: + mode = str(row.get("inference_mode", "")).lower() + role = str(row.get("genotype_role", "")).lower() + if "genotype-first" in mode or "substitute" in role or "molecular autopsy" in str(row.get("diagnostic_framework", "")).lower(): + return 1.0 + if "support" in role and "replace" in role: + return 0.25 + if "support" in role: + return 0.4 + return 0.0 + + +def load_overlay(assignments_path: Path) -> pd.DataFrame: + assignments = pd.read_csv(assignments_path, low_memory=False) + reference = pd.read_csv(REFERENCE, sep="\t") + if "condition_groups" not in assignments.columns: + raise ValueError("Expected condition_groups column in CAB regime assignments.") + assignments["clinical_disease_group"] = assignments["condition_groups"].map(lambda x: infer_primary_disease_group(split_groups(x))) + overlay = assignments.merge( + reference, + left_on="clinical_disease_group", + right_on="disease_group", + how="left", + ) + overlay["disease_group"] = overlay["disease_group"].fillna("unknown") + overlay["inference_mode"] = overlay["inference_mode"].fillna("unknown") + overlay["primary_phenotype_tool"] = overlay["primary_phenotype_tool"].fillna("Not mapped") + overlay["diagnostic_framework"] = overlay["diagnostic_framework"].fillna("Not mapped") + overlay["genotype_role"] = overlay["genotype_role"].fillna("Unknown") + overlay["cab_interpretation"] = overlay["cab_interpretation"].fillna("Unmapped clinical inference context") + overlay["phenotype_anchoring_score"] = overlay.apply(phenotype_anchoring_score, axis=1) + overlay["genotype_substitution_score"] = overlay.apply(genotype_substitution_score, axis=1) + overlay["genotype_first_inference_flag"] = overlay["genotype_substitution_score"].ge(0.8) + overlay["phenotype_first_flag"] = overlay["phenotype_anchoring_score"].ge(0.8) + overlay["provocation_or_structural_flag"] = overlay["inference_mode"].str.contains( + "provocation|structural", flags=re.IGNORECASE, regex=True, na=False + ) + return overlay + + +def summarize(overlay: pd.DataFrame) -> tuple[pd.DataFrame, pd.DataFrame]: + summary = ( + overlay.groupby(["clinical_disease_group", "inference_mode", "primary_phenotype_tool"], dropna=False) + .agg( + n_assertions=("primary_regime", "size"), + n_genes=("gene", "nunique"), + collision_fraction=("is_disease_model_collision", "mean"), + unanchored_fraction=("is_unanchored_assertion_state", "mean"), + canonical_fraction=("is_canonical_monogenic", "mean"), + ancestry_concentrated_fraction=("is_ancestry_concentrated", "mean"), + penetrance_boundary_fraction=("is_penetrance_boundary", "mean"), + median_condition_entropy=("condition_entropy", "median"), + median_popmax_af=("popmax_af", "median"), + median_phenotype_anchoring_score=("phenotype_anchoring_score", "median"), + median_genotype_substitution_score=("genotype_substitution_score", "median"), + ) + .reset_index() + .sort_values("n_assertions", ascending=False) + ) + regime_by_env = ( + overlay.groupby(["inference_mode", "primary_regime"], dropna=False) + .size() + .reset_index(name="n_assertions") + ) + regime_by_env["percent_within_inference_mode"] = regime_by_env["n_assertions"] / regime_by_env.groupby("inference_mode")["n_assertions"].transform("sum") * 100.0 + return summary, regime_by_env + + +def write_report(summary: pd.DataFrame, regime_by_env: pd.DataFrame, overlay: pd.DataFrame) -> None: + REPORT_DIR.mkdir(parents=True, exist_ok=True) + total = len(overlay) + genotype_first_n = int(overlay["genotype_first_inference_flag"].sum()) + phenotype_first_n = int(overlay["phenotype_first_flag"].sum()) + text = f"""# CAB clinical inference-environment overlay + +## Purpose + +This overlay adds the clinical diagnostic-context layer missing from the first CAB regime map. LQTS, Brugada, CPVT, cardiomyopathy/ARVC overlap, SADS, conduction disease, and nonspecific arrhythmia are treated as distinct phenotype-inference environments rather than interchangeable condition labels. + +## Overall counts + +- Assertions with clinical inference overlay: {total:,} +- Phenotype-first assertions: {phenotype_first_n:,} ({(100.0 * phenotype_first_n / total if total else 0.0):.2f}%) +- Genotype-first/postmortem assertions: {genotype_first_n:,} ({(100.0 * genotype_first_n / total if total else 0.0):.2f}%) + +## Clinical disease-group summary + +```text +{summary.to_string(index=False)} +``` + +## Regime by inference mode + +```text +{regime_by_env.to_string(index=False)} +``` + +## Interpretation boundary + +This is not a patient-level clinical scoring implementation. It does not compute Schwartz score, Shanghai score, or ARVC/Padua criteria for individuals because patient ECG, imaging, exercise, and family-history data are not present. Instead, it maps public assertion labels to the diagnostic environment in which those scores or criteria define phenotype anchoring. +""" + REPORT_OUT.write_text(text, encoding="utf-8") + + +def main() -> None: + parser = argparse.ArgumentParser(description="Run clinical inference-environment overlay for CAB regimes.") + parser.add_argument("--assignments", type=Path, default=DEFAULT_ASSIGNMENTS) + args = parser.parse_args() + if not args.assignments.exists(): + raise FileNotFoundError(args.assignments) + overlay = load_overlay(args.assignments) + summary, regime_by_env = summarize(overlay) + DATA_DIR.mkdir(parents=True, exist_ok=True) + overlay.to_csv(OVERLAY_OUT, index=False) + summary.to_csv(SUMMARY_OUT, index=False) + regime_by_env.to_csv(REGIME_BY_ENV_OUT, index=False) + write_report(summary, regime_by_env, overlay) + print(f"wrote {OVERLAY_OUT.relative_to(BASE_DIR)}") + print(f"wrote {SUMMARY_OUT.relative_to(BASE_DIR)}") + print(f"wrote {REGIME_BY_ENV_OUT.relative_to(BASE_DIR)}") + print(f"wrote {REPORT_OUT.relative_to(BASE_DIR)}") + print("\nClinical inference summary:") + print(summary.to_string(index=False)) + + +if __name__ == "__main__": + main() From 330cce91412b8a6ace407d5bab73949f0bd6a991 Mon Sep 17 00:00:00 2001 From: anere Date: Sun, 3 May 2026 01:55:24 +0500 Subject: [PATCH 3/9] Add clinical inference environment overlay for CAB regimes --- .../cab_clinical_inference_overlay.csv | 1732 +++++++++++++++++ .../cab_clinical_inference_summary.csv | 9 + .../cab_regime_by_clinical_environment.csv | 23 + .../cab_clinical_inference_overlay_report.md | 57 + 4 files changed, 1821 insertions(+) create mode 100644 data/processed/cab_clinical_inference_overlay.csv create mode 100644 data/processed/cab_clinical_inference_summary.csv create mode 100644 data/processed/cab_regime_by_clinical_environment.csv create mode 100644 reports/cab_clinical_inference_overlay_report.md diff --git a/data/processed/cab_clinical_inference_overlay.csv b/data/processed/cab_clinical_inference_overlay.csv new file mode 100644 index 0000000..cbb5196 --- /dev/null +++ b/data/processed/cab_clinical_inference_overlay.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,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,clinical_disease_group,disease_group,primary_phenotype_tool,inference_mode,diagnostic_framework,genotype_role,cab_interpretation,phenotype_anchoring_score,genotype_substitution_score,genotype_first_inference_flag,phenotype_first_flag,provocation_or_structural_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,-3.834198986415146,-2.24592806189834,1.5882709216285975,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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,-3.661118268745641,0.8956580645755892,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,False,False,True +7:150950166:A:C,KCNH2,VCV004535537,4535537,NM_000238.4(KCNH2):c.2398+2T>G,Likely pathogenic,"criteria provided, single 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Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-3.705340393106432,1.2290041212231118,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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,False,False,True +6:123547340:CT:C,TRDN,VCV001074440,1074440,NM_006073.4(TRDN):c.423del (p.Glu142fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no 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tachycardia,variation_id,-4.8360107935553724,-3.874017703862406,0.9619930631712436,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,False,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,-3.825166372256633,1.640156263823216,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,False,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,-3.668944734457764,1.472936795822951,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,0.0001,0.3310552655422359,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-0.9503891975549912,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,-0.1797049544472912,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,False,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,-0.0484418035504045,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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=0.60,2682850,2682850,,,,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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,False,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,-4.1702617153949575,0.1072379535210397,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-4.303858157643766,0.207825005182703,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-0.1733222677590504,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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=0.60,2051520,2051520,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.863156844612114,-4.296467738800115,1.5666887974934325,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,-1.2964677388001151,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-0.4262672071396062,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,False,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,-4.37892849517859,0.1195486677516588,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-1.3493746742040509,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-0.416374191535422,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,-4.988535770106624,-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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-0.4118048308154233,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-4.417172649517775,1.4466618322241802,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,-0.4171726495177749,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,-1.173419384081802,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-4.803119120389559,-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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-4.426657628095805,1.2611344241803577,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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,False,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=0.81,373047,373047,,,,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-0.41650736985045,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,-0.4170064251187987,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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=0.81,2452890,2452890,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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,-4.807694814981124,0.1191766612015801,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,SQTS,SQTS,ECG QT shortening; clinical/family context,phenotype-first with genotype support,Short QT diagnostic logic,Genotype supports but does not replace ECG-defined repolarization phenotype,ECG-anchored rare assertion context,0.9,0.25,False,True,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,-0.4000196350651585,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-4.524551894875205,1.6401951907483343,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,-4.572371992403904,1.2495157879385057,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-4.598440304561373,1.2619770675831683,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-4.584449332383948,0.1086930798245443,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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-05,0.0773004862991042,True,False,True,False,True,True,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision|sads_sensitive,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-4.591643280638968,1.5674508562497027,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,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,-4.643965630551612,1.5126519625515125,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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-4.900541903841445,0.1202991196617191,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,False,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,-1.4521136955459195,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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-05,0.0708493978682867,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-4.401400540781544,1.444921429499879,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,-0.4014005407815441,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,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,-4.649802009508604,1.500045626400032,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,-4.930581513254062,0.1189966696034422,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,-1.9305815132540616,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-4.471027532730552,0.976624118936085,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-05,0.1310324585974109,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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=0.60,418944,418944,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,-4.4172058867643305,0.9023325357645696,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-05,0.1848541045636321,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,False,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,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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-05,0.1220961923497107,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,False,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,-0.4660664756585466,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,False,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,-4.650482371613895,1.514416854151332,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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,False,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=0.81,3780742,3780742,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,-4.524292242540612,1.1632103621844785,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,False,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,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,False,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,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-4.484385265924494,1.0380527499608,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,-0.4843852659244936,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-1.4655464247259655,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-4.650249224657871,1.5145394706211843,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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,False,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,-6.164915289491503,-4.7810081764447645,1.383906504385222,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,SQTS,SQTS,ECG QT shortening; clinical/family context,phenotype-first with genotype support,Short QT diagnostic logic,Genotype supports but does not replace ECG-defined repolarization phenotype,ECG-anchored rare assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-5.863883511361896,-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,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-5.6499407602904,-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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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-05,0.0032913639311787,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,cardiomyopathy_overlap,cardiomyopathy_overlap,Cardiac MRI/echo; ECG; ventricular arrhythmia burden; family/genetic criteria,structural-electrical hybrid,ARVC 2010 Task Force / 2020 Padua criteria logic,"Genotype is one diagnostic category among structural, ECG, arrhythmia, and family criteria",Mixed substrate and disease-model collision assertion context,0.75,0.0,False,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,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-4.935789314484561,1.2287497103731817,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,False,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,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-0.1789481851168019,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,SQTS,SQTS,ECG QT shortening; clinical/family context,phenotype-first with genotype support,Short QT diagnostic logic,Genotype supports but does not replace ECG-defined repolarization phenotype,ECG-anchored rare assertion context,0.9,0.25,False,True,False +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,-4.780734840723263,0.9068955856199428,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,False,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,False,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,-6.164409369882272,-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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-0.1242922426172685,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-0.9353056902899252,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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=0.81,1477795,1477795,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,-4.935799384263986,0.4509604273931589,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,-0.3337393929360234,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,SQTS,SQTS,ECG QT shortening; clinical/family context,phenotype-first with genotype support,Short QT diagnostic logic,Genotype supports but does not replace ECG-defined repolarization phenotype,ECG-anchored rare assertion context,0.9,0.25,False,True,False +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,-4.779985883118516,0.9070932055901252,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-0.1789338033142704,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,cardiomyopathy_overlap,cardiomyopathy_overlap,Cardiac MRI/echo; ECG; ventricular arrhythmia burden; family/genetic criteria,structural-electrical hybrid,ARVC 2010 Task Force / 2020 Padua criteria logic,"Genotype is one diagnostic category among structural, ECG, arrhythmia, and family criteria",Mixed substrate and disease-model collision assertion context,0.75,0.0,False,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,-0.3337393929360234,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,False,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,-6.154470839086335,-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,-1.932301230265192,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-4.934649922900711,0.927695289113376,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-5.406371539249691,0.1740001876420231,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,-5.730439063590216,0.1102427121362369,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-5.745049795496874,0.1186238521473121,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-5.947987265993787,0.1126152827392174,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-6.044841466716941,0.1181998328492641,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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,False,False,True +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,-1.4438479127911197,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-0.496432703992366,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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=0.60,3592999,3592999,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,-5.384679505450385,-5.266416730393942,0.1182627499527786,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,-2.266416730393942,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-5.267364183848557,0.1184058621720744,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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,-5.332041555644992,0.1111550424666818,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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=0.60,519537,519537,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,-5.568970253535253,0.1183600432468597,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,-0.9669102622072908,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-5.852620262739047,-5.738076240415614,0.1145439506136409,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-5.744174807646243,0.1179696205442554,anchored_exact,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-5.744999017769321,0.1187917193463861,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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,-5.745006048885716,0.1187270389735655,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-5.745020891979852,0.1184981729414689,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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=0.60,523933,523933,,,,unmatched,-5.977058396966116,-5.920982712595298,0.0560756344712959,anchored_exact,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,-1.3189227212673351,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-5.957343853304137,0.1000992397318687,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,-1.3552838619761751,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-6.004554368310682,0.0905527850337244,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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=0.60,1332487,1332487,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,-6.163805180569505,-6.044944860654155,0.1188601682920498,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,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,-6.045717967964516,0.1183705100465191,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,-1.4436579766365545,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-6.045852416959342,0.1187655420818688,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,-6.045927440163924,0.1187790993406663,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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,-6.045966509617412,0.1187281409964697,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,-1.4439065182894495,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,-6.046039950676286,0.1188104192677384,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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,-6.046064949054553,0.1188050304518131,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,-1.44400495772659,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-6.0460727607526765,0.1187936534583143,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,-6.046081353458328,0.1187898144944601,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,-6.046095413882688,0.1187917975479082,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-6.046099319475336,0.1188015581451106,anchored_exact,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-6.046105568350519,0.1187964976205101,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-6.046107130555266,0.1188062245198521,anchored_exact,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-6.046109473851851,0.118806257841608,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,-1.4440494825238883,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,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,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,-5.33958101465353,0.1200695301165615,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-5.346286455787436,0.1186124226840596,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-5.346667430637412,0.1188230583360297,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,-2.346667430637412,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-5.46579909867318,-5.347063696520862,0.1187353717880193,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-5.443885421221095,0.1186060644902975,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-5.443980740569425,0.1188156943800694,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-5.568925726895951,0.1187708050627338,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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,-5.568954630672922,0.1187924127571855,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,-0.9668946393449596,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-5.568985094733933,0.1188065127651505,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,-0.9669251034059708,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,SQTS,SQTS,ECG QT shortening; clinical/family context,phenotype-first with genotype support,Short QT diagnostic logic,Genotype supports but does not replace ECG-defined repolarization phenotype,ECG-anchored rare assertion context,0.9,0.25,False,True,False +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,-5.568985094733933,0.1188059186077929,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,-0.9669251034059708,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,False,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=0.81,406420,406420,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,-5.823201568381257,-5.6921663145671575,0.1310351785274578,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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,-5.699882800001281,0.1128961740562011,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-5.717668007049792,0.0969384093222719,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-5.736919730952796,0.1201309103460993,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-5.741612447304745,0.1168181949640892,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,-1.139552455976783,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,cardiomyopathy_overlap,cardiomyopathy_overlap,Cardiac MRI/echo; ECG; ventricular arrhythmia burden; family/genetic criteria,structural-electrical hybrid,ARVC 2010 Task Force / 2020 Padua criteria logic,"Genotype is one diagnostic category among structural, ECG, arrhythmia, and family criteria",Mixed substrate and disease-model collision assertion context,0.75,0.0,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,-5.744216290118542,0.1181577452473548,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,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,-5.744350102784581,0.1187923821206125,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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,conduction,conduction,ECG conduction intervals; rhythm monitoring; family history,intermittent/electrical phenotype,Conduction disease clinical evaluation,Genotype supports conduction-system disease but penetrance and expressivity vary,Intermittent electrical assertion context,0.55,0.4,False,False,False +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,-5.744786468083148,0.1188324872083267,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,cardiomyopathy_overlap,cardiomyopathy_overlap,Cardiac MRI/echo; ECG; ventricular arrhythmia burden; family/genetic criteria,structural-electrical hybrid,ARVC 2010 Task Force / 2020 Padua criteria logic,"Genotype is one diagnostic category among structural, ECG, arrhythmia, and family criteria",Mixed substrate and disease-model collision assertion context,0.75,0.0,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,-5.744868530841418,0.1138784726979218,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-5.744977923737119,0.118701073821815,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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,-5.745049795496874,0.1188057136448468,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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,-5.745051357794347,0.1187970209593002,anchored_exact,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,-5.745069323811355,0.118795692344375,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,-5.7450747915820575,0.1187825001525042,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-5.745079478187869,0.1188027688862876,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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=0.81,985692,985692,"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,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,-5.924967407588051,0.1291504336910386,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-5.995764147751594,0.106152506131242,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-6.01216460177021,0.1029156610593101,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-6.027799572817206,0.1185020006672812,anchored_exact,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-6.032030977970395,0.1072319756071127,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,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,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,-6.04136662670755,0.1195241368450452,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,-3.041366626707549,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-6.04153084778685,0.1186487078861845,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,-1.4394708564588885,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,-6.041825184959691,0.1157710416883023,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-6.042609372702631,0.1189800619536475,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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,-6.042948617011904,0.1170116413088229,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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,-6.043232559845933,0.1192229585467276,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-6.044117803793188,0.11848169587234,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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,-6.044251964559872,0.1177563741325234,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,-1.4421919732319095,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,-6.044369615330105,0.1187504439068127,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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,-6.044528001357354,0.1190416722177387,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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-6.045132003733958,0.1187278239514015,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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,-6.045164099674874,0.118917234240728,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-6.045506830322182,0.1187137806534892,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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,-6.0455169985611645,0.1187791840654373,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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,-6.0456413446868185,0.1183887913764487,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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,-6.045807084158768,0.1184129320459767,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-6.045873518545591,0.1183929134325239,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,-1.443813527217629,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-6.045943068367087,0.1188074573814925,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,-1.443883077039125,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,-6.045960258741038,0.118456692688578,anchored_exact,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-6.045968853672857,0.1186425652904296,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,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,-6.04598057376031,0.1187955095477307,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-6.045990730913602,0.11880496529473,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,cardiomyopathy_overlap,cardiomyopathy_overlap,Cardiac MRI/echo; ECG; ventricular arrhythmia burden; family/genetic criteria,structural-electrical hybrid,ARVC 2010 Task Force / 2020 Padua criteria logic,"Genotype is one diagnostic category among structural, ECG, arrhythmia, and family criteria",Mixed substrate and disease-model collision assertion context,0.75,0.0,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,-6.045991512223247,0.1188237959892671,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,-3.0459915122232477,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-6.04599307483832,0.1187711214531389,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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,-6.046011825780659,0.1188207165141323,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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,-6.046014169591529,0.1187607250654539,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,-6.046045419194488,0.118800791043548,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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,-6.046047762824068,0.1188055783271553,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,-6.046085259177423,0.1187954160880944,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-6.164890928494708,-6.046095413882688,0.11879536268124,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,-6.046097757242491,0.118708636650981,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-6.046098538359616,0.1188011509130762,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,-6.046100881702562,0.1187952425125697,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,cardiomyopathy_overlap,cardiomyopathy_overlap,Cardiac MRI/echo; ECG; ventricular arrhythmia burden; family/genetic criteria,structural-electrical hybrid,ARVC 2010 Task Force / 2020 Padua criteria logic,"Genotype is one diagnostic category among structural, ECG, arrhythmia, and family criteria",Mixed substrate and disease-model collision assertion context,0.75,0.0,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,-6.046102443924167,0.1186938467245168,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-6.046103225032862,0.1187988409355615,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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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=0.81,1405357,1405357,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,-6.0461079116555325,0.1188054434204544,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,SQTS,SQTS,ECG QT shortening; clinical/family context,phenotype-first with genotype support,Short QT diagnostic logic,Genotype supports but does not replace ECG-defined repolarization phenotype,ECG-anchored rare assertion context,0.9,0.25,False,True,False +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,-6.046109473851851,0.1188032870699077,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,-1.4440494825238883,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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=0.81,4614411,4614411,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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=0.81,869440,869440,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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=0.81,4730168,4730168,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,cardiomyopathy_overlap,cardiomyopathy_overlap,Cardiac MRI/echo; ECG; ventricular arrhythmia burden; family/genetic criteria,structural-electrical hybrid,ARVC 2010 Task Force / 2020 Padua criteria logic,"Genotype is one diagnostic category among structural, ECG, arrhythmia, and family criteria",Mixed substrate and disease-model collision assertion context,0.75,0.0,False,False,True +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,cardiomyopathy_overlap,cardiomyopathy_overlap,Cardiac MRI/echo; ECG; ventricular arrhythmia burden; family/genetic criteria,structural-electrical hybrid,ARVC 2010 Task Force / 2020 Padua criteria logic,"Genotype is one diagnostic category among structural, ECG, arrhythmia, and family criteria",Mixed substrate and disease-model collision assertion context,0.75,0.0,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,False,True,False,False,False,False,disease_model_collision,disease_model_collision,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,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,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,conduction,conduction,ECG conduction intervals; rhythm monitoring; family history,intermittent/electrical phenotype,Conduction disease clinical evaluation,Genotype supports conduction-system disease but penetrance and expressivity vary,Intermittent electrical assertion context,0.55,0.4,False,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,cardiomyopathy_overlap,cardiomyopathy_overlap,Cardiac MRI/echo; ECG; ventricular arrhythmia burden; family/genetic criteria,structural-electrical hybrid,ARVC 2010 Task Force / 2020 Padua criteria logic,"Genotype is one diagnostic category among structural, ECG, arrhythmia, and family criteria",Mixed substrate and disease-model collision assertion context,0.75,0.0,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,conduction,conduction,ECG conduction intervals; rhythm monitoring; family history,intermittent/electrical phenotype,Conduction disease clinical evaluation,Genotype supports conduction-system disease but penetrance and expressivity vary,Intermittent electrical assertion context,0.55,0.4,False,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,conduction,conduction,ECG conduction intervals; rhythm monitoring; family history,intermittent/electrical phenotype,Conduction disease clinical evaluation,Genotype supports conduction-system disease but penetrance and expressivity vary,Intermittent electrical assertion context,0.55,0.4,False,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,cardiomyopathy_overlap,cardiomyopathy_overlap,Cardiac MRI/echo; ECG; ventricular arrhythmia burden; family/genetic criteria,structural-electrical hybrid,ARVC 2010 Task Force / 2020 Padua criteria logic,"Genotype is one diagnostic category among structural, ECG, arrhythmia, and family criteria",Mixed substrate and disease-model collision assertion context,0.75,0.0,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,cardiomyopathy_overlap,cardiomyopathy_overlap,Cardiac MRI/echo; ECG; ventricular arrhythmia burden; family/genetic criteria,structural-electrical hybrid,ARVC 2010 Task Force / 2020 Padua criteria logic,"Genotype is one diagnostic category among structural, ECG, arrhythmia, and family criteria",Mixed substrate and disease-model collision assertion context,0.75,0.0,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,cardiomyopathy_overlap,cardiomyopathy_overlap,Cardiac MRI/echo; ECG; ventricular arrhythmia burden; family/genetic criteria,structural-electrical hybrid,ARVC 2010 Task Force / 2020 Padua criteria logic,"Genotype is one diagnostic category among structural, ECG, arrhythmia, and family criteria",Mixed substrate and disease-model collision assertion context,0.75,0.0,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,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,cardiomyopathy_overlap,cardiomyopathy_overlap,Cardiac MRI/echo; ECG; ventricular arrhythmia burden; family/genetic criteria,structural-electrical hybrid,ARVC 2010 Task Force / 2020 Padua criteria logic,"Genotype is one diagnostic category among structural, ECG, arrhythmia, and family criteria",Mixed substrate and disease-model collision assertion context,0.75,0.0,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,cardiomyopathy_overlap,cardiomyopathy_overlap,Cardiac MRI/echo; ECG; ventricular arrhythmia burden; family/genetic criteria,structural-electrical hybrid,ARVC 2010 Task Force / 2020 Padua criteria logic,"Genotype is one diagnostic category among structural, ECG, arrhythmia, and family criteria",Mixed substrate and disease-model collision assertion context,0.75,0.0,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,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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,conduction,conduction,ECG conduction intervals; rhythm monitoring; family history,intermittent/electrical phenotype,Conduction disease clinical evaluation,Genotype supports conduction-system disease but penetrance and expressivity vary,Intermittent electrical assertion context,0.55,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,cardiomyopathy_overlap,cardiomyopathy_overlap,Cardiac MRI/echo; ECG; ventricular arrhythmia burden; family/genetic criteria,structural-electrical hybrid,ARVC 2010 Task Force / 2020 Padua criteria logic,"Genotype is one diagnostic category among structural, ECG, arrhythmia, and family criteria",Mixed substrate and disease-model collision assertion context,0.75,0.0,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,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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,CPVT,CPVT,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,provocation-dependent,CPVT clinical diagnostic logic,Genotype supports catecholaminergic arrhythmia biology but phenotype is stress-dependent,Stress-provoked genotype-phenotype assertion context,0.65,0.4,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,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,SADS,SADS,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,genotype-first/postmortem,SADS/SUDS molecular autopsy context,Genotype may be asked to substitute for absent phenotype,SADS-sensitive assertion context where phenotype absence is defining,0.2,1.0,True,False,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,SQTS,SQTS,ECG QT shortening; clinical/family context,phenotype-first with genotype support,Short QT diagnostic logic,Genotype supports but does not replace ECG-defined repolarization phenotype,ECG-anchored rare assertion context,0.9,0.25,False,True,False +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,SQTS,SQTS,ECG QT shortening; clinical/family context,phenotype-first with genotype support,Short QT diagnostic logic,Genotype supports but does not replace ECG-defined repolarization phenotype,ECG-anchored rare assertion context,0.9,0.25,False,True,False +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,SQTS,SQTS,ECG QT shortening; clinical/family context,phenotype-first with genotype support,Short QT diagnostic logic,Genotype supports but does not replace ECG-defined repolarization phenotype,ECG-anchored rare assertion context,0.9,0.25,False,True,False +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,SQTS,SQTS,ECG QT shortening; clinical/family context,phenotype-first with genotype support,Short QT diagnostic logic,Genotype supports but does not replace ECG-defined repolarization phenotype,ECG-anchored rare assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,SQTS,SQTS,ECG QT shortening; clinical/family context,phenotype-first with genotype support,Short QT diagnostic logic,Genotype supports but does not replace ECG-defined repolarization phenotype,ECG-anchored rare assertion context,0.9,0.25,False,True,False +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,SQTS,SQTS,ECG QT shortening; clinical/family context,phenotype-first with genotype support,Short QT diagnostic logic,Genotype supports but does not replace ECG-defined repolarization phenotype,ECG-anchored rare assertion context,0.9,0.25,False,True,False +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,SQTS,SQTS,ECG QT shortening; clinical/family context,phenotype-first with genotype support,Short QT diagnostic logic,Genotype supports but does not replace ECG-defined repolarization phenotype,ECG-anchored rare assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,SQTS,SQTS,ECG QT shortening; clinical/family context,phenotype-first with genotype support,Short QT diagnostic logic,Genotype supports but does not replace ECG-defined repolarization phenotype,ECG-anchored rare assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,SQTS,SQTS,ECG QT shortening; clinical/family context,phenotype-first with genotype support,Short QT diagnostic logic,Genotype supports but does not replace ECG-defined repolarization phenotype,ECG-anchored rare assertion context,0.9,0.25,False,True,False +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,SQTS,SQTS,ECG QT shortening; clinical/family context,phenotype-first with genotype support,Short QT diagnostic logic,Genotype supports but does not replace ECG-defined repolarization phenotype,ECG-anchored rare assertion context,0.9,0.25,False,True,False +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,SQTS,SQTS,ECG QT shortening; clinical/family context,phenotype-first with genotype support,Short QT diagnostic logic,Genotype supports but does not replace ECG-defined repolarization phenotype,ECG-anchored rare assertion context,0.9,0.25,False,True,False +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,SQTS,SQTS,ECG QT shortening; clinical/family context,phenotype-first with genotype support,Short QT diagnostic logic,Genotype supports but does not replace ECG-defined repolarization phenotype,ECG-anchored rare assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,SQTS,SQTS,ECG QT shortening; clinical/family context,phenotype-first with genotype support,Short QT diagnostic logic,Genotype supports but does not replace ECG-defined repolarization phenotype,ECG-anchored rare assertion context,0.9,0.25,False,True,False +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,SQTS,SQTS,ECG QT shortening; clinical/family context,phenotype-first with genotype support,Short QT diagnostic logic,Genotype supports but does not replace ECG-defined repolarization phenotype,ECG-anchored rare assertion context,0.9,0.25,False,True,False +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,SQTS,SQTS,ECG QT shortening; clinical/family context,phenotype-first with genotype support,Short QT diagnostic logic,Genotype supports but does not replace ECG-defined repolarization phenotype,ECG-anchored rare assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,SQTS,SQTS,ECG QT shortening; clinical/family context,phenotype-first with genotype support,Short QT diagnostic logic,Genotype supports but does not replace ECG-defined repolarization phenotype,ECG-anchored rare assertion context,0.9,0.25,False,True,False +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,SQTS,SQTS,ECG QT shortening; clinical/family context,phenotype-first with genotype support,Short QT diagnostic logic,Genotype supports but does not replace ECG-defined repolarization phenotype,ECG-anchored rare assertion context,0.9,0.25,False,True,False +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,conduction,conduction,ECG conduction intervals; rhythm monitoring; family history,intermittent/electrical phenotype,Conduction disease clinical evaluation,Genotype supports conduction-system disease but penetrance and expressivity vary,Intermittent electrical assertion context,0.55,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,arrhythmia,arrhythmia,ECG/Holter/patch monitoring; episode burden; clinical context,intermittent rhythm phenotype,General arrhythmia clinical evaluation,Genotype is contextual and often insufficient alone,Nonspecific/intermittent assertion context,0.55,0.0,False,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,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,cardiomyopathy_overlap,cardiomyopathy_overlap,Cardiac MRI/echo; ECG; ventricular arrhythmia burden; family/genetic criteria,structural-electrical hybrid,ARVC 2010 Task Force / 2020 Padua criteria logic,"Genotype is one diagnostic category among structural, ECG, arrhythmia, and family criteria",Mixed substrate and disease-model collision assertion context,0.75,0.0,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,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,cardiomyopathy_overlap,cardiomyopathy_overlap,Cardiac MRI/echo; ECG; ventricular arrhythmia burden; family/genetic criteria,structural-electrical hybrid,ARVC 2010 Task Force / 2020 Padua criteria logic,"Genotype is one diagnostic category among structural, ECG, arrhythmia, and family criteria",Mixed substrate and disease-model collision assertion context,0.75,0.0,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,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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,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,conduction,conduction,ECG conduction intervals; rhythm monitoring; family history,intermittent/electrical phenotype,Conduction disease clinical evaluation,Genotype supports conduction-system disease but penetrance and expressivity vary,Intermittent electrical assertion context,0.55,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,conduction,conduction,ECG conduction intervals; rhythm monitoring; family history,intermittent/electrical phenotype,Conduction disease clinical evaluation,Genotype supports conduction-system disease but penetrance and expressivity vary,Intermittent electrical assertion context,0.55,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,conduction,conduction,ECG conduction intervals; rhythm monitoring; family history,intermittent/electrical phenotype,Conduction disease clinical evaluation,Genotype supports conduction-system disease but penetrance and expressivity vary,Intermittent electrical assertion context,0.55,0.4,False,False,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,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,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,False,False,True +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,False,False,True +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,Brugada,Brugada,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,context/provocation-dependent,Brugada diagnostic criteria / Shanghai score logic,"Genotype contributes supporting evidence, especially SCN5A, but ECG context remains central",Provocation-dependent and model-collision-prone assertion context,0.65,0.4,False,False,True +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,LQTS,LQTS,ECG/QTc; Schwartz score components; exercise recovery QTc,phenotype-first with genotype support,Schwartz score / LQTS diagnostic scoring,"Genotype supports diagnosis but does not replace QTc, torsades, syncope, and family history",ECG-anchored monogenic or boundary-sensitive assertion context,0.9,0.25,False,True,False diff --git a/data/processed/cab_clinical_inference_summary.csv b/data/processed/cab_clinical_inference_summary.csv new file mode 100644 index 0000000..8857511 --- /dev/null +++ b/data/processed/cab_clinical_inference_summary.csv @@ -0,0 +1,9 @@ +clinical_disease_group,inference_mode,primary_phenotype_tool,n_assertions,n_genes,collision_fraction,unanchored_fraction,canonical_fraction,ancestry_concentrated_fraction,penetrance_boundary_fraction,median_condition_entropy,median_popmax_af,median_phenotype_anchoring_score,median_genotype_substitution_score +LQTS,phenotype-first with genotype support,ECG/QTc; Schwartz score components; exercise recovery QTc,883,11,0.18459796149490373,0.8301245753114382,0.12797281993204984,0.04190260475651189,0.053227633069082674,-0.0,0.0,0.9,0.25 +SADS,genotype-first/postmortem,Postmortem absence of explanatory phenotype; family cascade; molecular autopsy,310,7,1.0,0.8709677419354839,0.0,0.025806451612903226,0.03225806451612903,2.0,0.0,0.2,1.0 +CPVT,provocation-dependent,exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia,258,4,1.0,0.6705426356589147,0.0,0.07364341085271318,0.03488372093023256,1.0,0.0,0.65,0.4 +Brugada,context/provocation-dependent,Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring,181,6,0.9281767955801105,0.8397790055248618,0.022099447513812154,0.049723756906077346,0.06629834254143646,1.0,0.0,0.65,0.4 +arrhythmia,intermittent rhythm phenotype,ECG/Holter/patch monitoring; episode burden; clinical context,50,6,0.52,0.7,0.08,0.12,0.14,-0.0,0.0,0.55,0.0 +SQTS,phenotype-first with genotype support,ECG QT shortening; clinical/family context,23,2,0.9565217391304348,0.7391304347826086,0.043478260869565216,0.08695652173913043,0.21739130434782608,-0.0,0.0,0.9,0.25 +cardiomyopathy_overlap,structural-electrical hybrid,Cardiac MRI/echo; ECG; ventricular arrhythmia burden; family/genetic criteria,17,5,0.6470588235294118,0.5294117647058824,0.058823529411764705,0.0,0.11764705882352941,1.0,0.0,0.75,0.0 +conduction,intermittent/electrical phenotype,ECG conduction intervals; rhythm monitoring; family history,9,4,0.5555555555555556,0.8888888888888888,0.0,0.0,0.0,-0.0,0.0,0.55,0.4 diff --git a/data/processed/cab_regime_by_clinical_environment.csv b/data/processed/cab_regime_by_clinical_environment.csv new file mode 100644 index 0000000..a5ebe73 --- /dev/null +++ b/data/processed/cab_regime_by_clinical_environment.csv @@ -0,0 +1,23 @@ +inference_mode,primary_regime,n_assertions,percent_within_inference_mode +context/provocation-dependent,ancestry_concentrated,3,1.6574585635359116 +context/provocation-dependent,canonical_monogenic,1,0.5524861878453038 +context/provocation-dependent,disease_model_collision,168,92.81767955801105 +context/provocation-dependent,penetrance_boundary,1,0.5524861878453038 +context/provocation-dependent,unanchored_assertion_state,7,3.867403314917127 +context/provocation-dependent,unknown_or_insufficient,1,0.5524861878453038 +genotype-first/postmortem,disease_model_collision,310,100.0 +intermittent rhythm phenotype,ancestry_concentrated,1,2.0 +intermittent rhythm phenotype,canonical_monogenic,3,6.0 +intermittent rhythm phenotype,disease_model_collision,26,52.0 +intermittent rhythm phenotype,unanchored_assertion_state,20,40.0 +intermittent/electrical phenotype,disease_model_collision,5,55.55555555555556 +intermittent/electrical phenotype,unanchored_assertion_state,4,44.44444444444444 +phenotype-first with genotype support,ancestry_concentrated,25,2.759381898454746 +phenotype-first with genotype support,canonical_monogenic,82,9.050772626931568 +phenotype-first with genotype support,disease_model_collision,185,20.41942604856512 +phenotype-first with genotype support,penetrance_boundary,7,0.772626931567329 +phenotype-first with genotype support,unanchored_assertion_state,607,66.99779249448123 +provocation-dependent,disease_model_collision,258,100.0 +structural-electrical hybrid,canonical_monogenic,1,5.88235294117647 +structural-electrical hybrid,disease_model_collision,11,64.70588235294117 +structural-electrical hybrid,unanchored_assertion_state,5,29.411764705882355 diff --git a/reports/cab_clinical_inference_overlay_report.md b/reports/cab_clinical_inference_overlay_report.md new file mode 100644 index 0000000..06c104f --- /dev/null +++ b/reports/cab_clinical_inference_overlay_report.md @@ -0,0 +1,57 @@ +# CAB clinical inference-environment overlay + +## Purpose + +This overlay adds the clinical diagnostic-context layer missing from the first CAB regime map. LQTS, Brugada, CPVT, cardiomyopathy/ARVC overlap, SADS, conduction disease, and nonspecific arrhythmia are treated as distinct phenotype-inference environments rather than interchangeable condition labels. + +## Overall counts + +- Assertions with clinical inference overlay: 1,731 +- Phenotype-first assertions: 906 (52.34%) +- Genotype-first/postmortem assertions: 310 (17.91%) + +## Clinical disease-group summary + +```text +clinical_disease_group inference_mode primary_phenotype_tool n_assertions n_genes collision_fraction unanchored_fraction canonical_fraction ancestry_concentrated_fraction penetrance_boundary_fraction median_condition_entropy median_popmax_af median_phenotype_anchoring_score median_genotype_substitution_score + LQTS phenotype-first with genotype support ECG/QTc; Schwartz score components; exercise recovery QTc 883 11 0.184598 0.830125 0.127973 0.041903 0.053228 -0.0 0.0 0.90 0.25 + SADS genotype-first/postmortem Postmortem absence of explanatory phenotype; family cascade; molecular autopsy 310 7 1.000000 0.870968 0.000000 0.025806 0.032258 2.0 0.0 0.20 1.00 + CPVT provocation-dependent exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia 258 4 1.000000 0.670543 0.000000 0.073643 0.034884 1.0 0.0 0.65 0.40 + Brugada context/provocation-dependent Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring 181 6 0.928177 0.839779 0.022099 0.049724 0.066298 1.0 0.0 0.65 0.40 + arrhythmia intermittent rhythm phenotype ECG/Holter/patch monitoring; episode burden; clinical context 50 6 0.520000 0.700000 0.080000 0.120000 0.140000 -0.0 0.0 0.55 0.00 + SQTS phenotype-first with genotype support ECG QT shortening; clinical/family context 23 2 0.956522 0.739130 0.043478 0.086957 0.217391 -0.0 0.0 0.90 0.25 +cardiomyopathy_overlap structural-electrical hybrid Cardiac MRI/echo; ECG; ventricular arrhythmia burden; family/genetic criteria 17 5 0.647059 0.529412 0.058824 0.000000 0.117647 1.0 0.0 0.75 0.00 + conduction intermittent/electrical phenotype ECG conduction intervals; rhythm monitoring; family history 9 4 0.555556 0.888889 0.000000 0.000000 0.000000 -0.0 0.0 0.55 0.40 +``` + +## Regime by inference mode + +```text + inference_mode primary_regime n_assertions percent_within_inference_mode + context/provocation-dependent ancestry_concentrated 3 1.657459 + context/provocation-dependent canonical_monogenic 1 0.552486 + context/provocation-dependent disease_model_collision 168 92.817680 + context/provocation-dependent penetrance_boundary 1 0.552486 + context/provocation-dependent unanchored_assertion_state 7 3.867403 + context/provocation-dependent unknown_or_insufficient 1 0.552486 + genotype-first/postmortem disease_model_collision 310 100.000000 + intermittent rhythm phenotype ancestry_concentrated 1 2.000000 + intermittent rhythm phenotype canonical_monogenic 3 6.000000 + intermittent rhythm phenotype disease_model_collision 26 52.000000 + intermittent rhythm phenotype unanchored_assertion_state 20 40.000000 + intermittent/electrical phenotype disease_model_collision 5 55.555556 + intermittent/electrical phenotype unanchored_assertion_state 4 44.444444 +phenotype-first with genotype support ancestry_concentrated 25 2.759382 +phenotype-first with genotype support canonical_monogenic 82 9.050773 +phenotype-first with genotype support disease_model_collision 185 20.419426 +phenotype-first with genotype support penetrance_boundary 7 0.772627 +phenotype-first with genotype support unanchored_assertion_state 607 66.997792 + provocation-dependent disease_model_collision 258 100.000000 + structural-electrical hybrid canonical_monogenic 1 5.882353 + structural-electrical hybrid disease_model_collision 11 64.705882 + structural-electrical hybrid unanchored_assertion_state 5 29.411765 +``` + +## Interpretation boundary + +This is not a patient-level clinical scoring implementation. It does not compute Schwartz score, Shanghai score, or ARVC/Padua criteria for individuals because patient ECG, imaging, exercise, and family-history data are not present. Instead, it maps public assertion labels to the diagnostic environment in which those scores or criteria define phenotype anchoring. From 98d4a7fe6bc634c8736abe9a88fa8e746861c845 Mon Sep 17 00:00:00 2001 From: Anere Cye Date: Sun, 3 May 2026 02:24:40 +0500 Subject: [PATCH 4/9] Add downloader scaffold for CAB external anchors --- src/download_cab_external_anchors.py | 159 +++++++++++++++++++++++++++ 1 file changed, 159 insertions(+) create mode 100644 src/download_cab_external_anchors.py diff --git a/src/download_cab_external_anchors.py b/src/download_cab_external_anchors.py new file mode 100644 index 0000000..d7645b5 --- /dev/null +++ b/src/download_cab_external_anchors.py @@ -0,0 +1,159 @@ +from __future__ import annotations + +"""Downloader scaffold for CAB external phenotype/death-context anchors. + +Targets: +- SVAD: sudden cardiac death associated variant database. +- LQTS LOVD: phenotype-linked LQTS variant resource. + +These older web resources may not expose stable CSV endpoints. This script tries +simple direct downloads and HTML link discovery, then writes clear instructions +when manual download is required. In other words, it behaves like an adult rather +than hallucinating a dataset because a website was built before APIs became cool. +""" + +from pathlib import Path +import argparse +import re +import urllib.parse +import urllib.request + +BASE_DIR = Path(__file__).resolve().parents[1] +RAW_DIR = BASE_DIR / "data" / "raw" +REPORT_DIR = BASE_DIR / "reports" + +SVAD_HOME = "http://svad.mbc.nctu.edu.tw/" +LOVD_HOME = "http://www.genomed.org/LOVD/LQTs/home.php" +REPORT_OUT = REPORT_DIR / "cab_external_anchor_download_report.md" + +DIRECT_CANDIDATES = { + "svad": [ + "http://svad.mbc.nctu.edu.tw/download.php", + "http://svad.mbc.nctu.edu.tw/download/SVAD.csv", + "http://svad.mbc.nctu.edu.tw/SVAD.csv", + "http://svad.mbc.nctu.edu.tw/download/SVAD.xlsx", + "http://svad.mbc.nctu.edu.tw/SVAD.xlsx", + ], + "lovd_lqts": [ + "http://www.genomed.org/LOVD/LQTs/home.php?action=download", + "http://www.genomed.org/LOVD/LQTs/variants.php?select_db=KCNQ1&action=download", + "http://www.genomed.org/LOVD/LQTs/variants.php?select_db=KCNH2&action=download", + "http://www.genomed.org/LOVD/LQTs/variants.php?select_db=SCN5A&action=download", + ], +} + + +def fetch_text(url: str, timeout: int = 30) -> str: + request = urllib.request.Request(url, headers={"User-Agent": "CAB-external-anchor-downloader/1.0"}) + with urllib.request.urlopen(request, timeout=timeout) as response: + return response.read().decode("utf-8", errors="replace") + + +def download_binary(url: str, output: Path, timeout: int = 60) -> bool: + request = urllib.request.Request(url, headers={"User-Agent": "CAB-external-anchor-downloader/1.0"}) + try: + with urllib.request.urlopen(request, timeout=timeout) as response: + data = response.read() + except Exception as exc: + print(f"failed {url}: {exc}") + return False + if len(data) < 1000: + print(f"skipped {url}: response too small ({len(data)} bytes)") + return False + output.parent.mkdir(parents=True, exist_ok=True) + output.write_bytes(data) + print(f"downloaded {url} -> {output.relative_to(BASE_DIR)} ({len(data):,} bytes)") + return True + + +def discover_download_links(home_url: str) -> list[str]: + try: + html = fetch_text(home_url) + except Exception as exc: + print(f"could not read {home_url}: {exc}") + return [] + hrefs = re.findall(r"href=[\"']([^\"']+)[\"']", html, flags=re.IGNORECASE) + links = [] + for href in hrefs: + absolute = urllib.parse.urljoin(home_url, href) + if re.search(r"download|export|csv|tsv|xls|xlsx|txt", absolute, flags=re.IGNORECASE): + links.append(absolute) + return sorted(set(links)) + + +def try_anchor(anchor: str, home_url: str, output_stem: str, extra_urls: list[str]) -> list[str]: + RAW_DIR.mkdir(parents=True, exist_ok=True) + attempted = [] + candidates = list(DIRECT_CANDIDATES.get(anchor, [])) + extra_urls + candidates += discover_download_links(home_url) + seen = set() + for url in candidates: + if url in seen: + continue + seen.add(url) + attempted.append(url) + suffix = ".xlsx" if ".xlsx" in url.lower() else ".xls" if ".xls" in url.lower() else ".csv" if ".csv" in url.lower() else ".tsv" + output = RAW_DIR / f"{output_stem}{suffix}" + if download_binary(url, output): + return attempted + return attempted + + +def write_report(svad_attempts: list[str], lovd_attempts: list[str]) -> None: + REPORT_DIR.mkdir(parents=True, exist_ok=True) + text = f"""# CAB external anchor download report + +## SVAD attempts + +```text +{chr(10).join(svad_attempts) if svad_attempts else 'No attempts'} +``` + +Expected manual fallback file names: + +```text +data/raw/svad.tsv +data/raw/svad.csv +data/raw/svad.xlsx +``` + +## LQTS LOVD attempts + +```text +{chr(10).join(lovd_attempts) if lovd_attempts else 'No attempts'} +``` + +Expected manual fallback file names: + +```text +data/raw/lqts_lovd.tsv +data/raw/lqts_lovd.csv +data/raw/lqts_lovd.xlsx +``` + +## Next command + +```bash +python src/run_cab_external_anchor_overlay.py +``` + +If the automatic download did not retrieve usable files, manually export tables from the source websites and save them under the fallback file names above. +""" + REPORT_OUT.write_text(text, encoding="utf-8") + print(f"wrote {REPORT_OUT.relative_to(BASE_DIR)}") + + +def main() -> None: + parser = argparse.ArgumentParser(description="Try downloading SVAD and LQTS LOVD external anchor tables.") + parser.add_argument("--svad-url", action="append", default=[], help="Additional SVAD download URL candidate") + parser.add_argument("--lovd-url", action="append", default=[], help="Additional LOVD download URL candidate") + parser.add_argument("--skip-svad", action="store_true") + parser.add_argument("--skip-lovd", action="store_true") + args = parser.parse_args() + svad_attempts = [] if args.skip_svad else try_anchor("svad", SVAD_HOME, "svad", args.svad_url) + lovd_attempts = [] if args.skip_lovd else try_anchor("lovd_lqts", LOVD_HOME, "lqts_lovd", args.lovd_url) + write_report(svad_attempts, lovd_attempts) + + +if __name__ == "__main__": + main() From 3c24013d5a94efd858fa5dbe55cd638a1083553b Mon Sep 17 00:00:00 2001 From: Anere Cye Date: Sun, 3 May 2026 02:25:58 +0500 Subject: [PATCH 5/9] Add external anchor overlay for SVAD and LQTS LOVD --- src/run_cab_external_anchor_overlay.py | 231 +++++++++++++++++++++++++ 1 file changed, 231 insertions(+) create mode 100644 src/run_cab_external_anchor_overlay.py diff --git a/src/run_cab_external_anchor_overlay.py b/src/run_cab_external_anchor_overlay.py new file mode 100644 index 0000000..01f717c --- /dev/null +++ b/src/run_cab_external_anchor_overlay.py @@ -0,0 +1,231 @@ +from __future__ import annotations + +"""External anchor overlay for CAB regimes. + +This script tests whether CAB regimes align with external curated resources: + +- SVAD: sudden-cardiac-death literature/annotation anchor. +- LQTS LOVD: phenotype-linked LQTS variant anchor. + +The overlay is intentionally conservative. It does not assume that an external +resource is clinical truth. It asks whether external phenotype/death-context +anchors are enriched in CAB regimes compared with the public ClinVar assertion +landscape. +""" + +from pathlib import Path +import argparse +import re + +import numpy as np +import pandas as pd + +BASE_DIR = Path(__file__).resolve().parents[1] +RAW_DIR = BASE_DIR / "data" / "raw" +DATA_DIR = BASE_DIR / "data" / "processed" +REPORT_DIR = BASE_DIR / "reports" + +DEFAULT_ASSIGNMENTS = DATA_DIR / "cab_biological_regime_assignments.csv" +OVERLAY_OUT = DATA_DIR / "cab_external_anchor_overlay.csv" +SUMMARY_OUT = DATA_DIR / "cab_external_anchor_summary.csv" +REPORT_OUT = REPORT_DIR / "cab_external_anchor_overlay_report.md" + +SVAD_CANDIDATES = [RAW_DIR / "svad.tsv", RAW_DIR / "svad.csv", RAW_DIR / "svad.xlsx"] +LOVD_CANDIDATES = [RAW_DIR / "lqts_lovd.tsv", RAW_DIR / "lqts_lovd.csv", RAW_DIR / "lqts_lovd.xlsx"] + +ID_COLUMNS = ["variation_id", "VariationID", "clinvar_variation_id", "clinvar_id", "VCV", "vcv"] +RS_COLUMNS = ["rsid", "RS", "dbSNP", "dbSNP ID", "rs"] +HGVS_COLUMNS = ["hgvs", "HGVS", "variant", "Variant", "DNA change", "Nucleotide change", "Name"] +PHENOTYPE_COLUMNS = ["phenotype", "Phenotype", "disease", "Disease", "condition", "Condition", "Diagnosis", "Clinical phenotype"] + + +def normalize_id(value: object) -> str | None: + if value is None or pd.isna(value): + return None + text = str(value) + match = re.search(r"VCV0*([0-9]+)", text, flags=re.IGNORECASE) + if match: + return str(int(match.group(1))) + match = re.search(r"\b([0-9]{3,})\b", text) + if match: + return str(int(match.group(1))) + return None + + +def normalize_rsid(value: object) -> str | None: + if value is None or pd.isna(value): + return None + text = str(value).strip().lower() + match = re.search(r"rs\s*([0-9]+)", text) + if match: + return "rs" + match.group(1) + return None + + +def normalize_text(value: object) -> str | None: + if value is None or pd.isna(value): + return None + text = re.sub(r"\s+", "", str(value).lower()) + text = text.replace("chr", "") + return text or None + + +def read_any(path: Path) -> pd.DataFrame: + if not path.exists(): + raise FileNotFoundError(path) + if path.suffix.lower() in {".xlsx", ".xls"}: + return pd.read_excel(path) + if path.suffix.lower() == ".csv": + return pd.read_csv(path, low_memory=False) + return pd.read_csv(path, sep="\t", low_memory=False) + + +def first_existing(paths: list[Path]) -> Path | None: + for path in paths: + if path.exists() and path.stat().st_size > 0: + return path + return None + + +def first_col(frame: pd.DataFrame, candidates: list[str]) -> str | None: + lower = {c.lower(): c for c in frame.columns} + for cand in candidates: + if cand in frame.columns: + return cand + if cand.lower() in lower: + return lower[cand.lower()] + return None + + +def build_anchor_keys(frame: pd.DataFrame, anchor_name: str) -> pd.DataFrame: + id_col = first_col(frame, ID_COLUMNS) + rs_col = first_col(frame, RS_COLUMNS) + hgvs_col = first_col(frame, HGVS_COLUMNS) + pheno_col = first_col(frame, PHENOTYPE_COLUMNS) + out = pd.DataFrame(index=frame.index) + out["anchor"] = anchor_name + out["anchor_variation_id_key"] = frame[id_col].map(normalize_id) if id_col else None + out["anchor_rsid_key"] = frame[rs_col].map(normalize_rsid) if rs_col else None + out["anchor_hgvs_key"] = frame[hgvs_col].map(normalize_text) if hgvs_col else None + out["anchor_phenotype_text"] = frame[pheno_col].astype(str) if pheno_col else "" + out = out.drop_duplicates() + return out + + +def build_assignment_keys(assignments: pd.DataFrame) -> pd.DataFrame: + out = assignments.copy() + id_col = first_col(out, ID_COLUMNS) + rs_col = first_col(out, RS_COLUMNS) + hgvs_col = first_col(out, HGVS_COLUMNS) + out["assignment_variation_id_key"] = out[id_col].map(normalize_id) if id_col else None + out["assignment_rsid_key"] = out[rs_col].map(normalize_rsid) if rs_col else None + out["assignment_hgvs_key"] = out[hgvs_col].map(normalize_text) if hgvs_col else None + return out + + +def mark_anchor(assignments: pd.DataFrame, anchor_keys: pd.DataFrame, anchor_name: str) -> pd.Series: + if anchor_keys.empty: + return pd.Series(False, index=assignments.index) + flags = pd.Series(False, index=assignments.index) + key_pairs = [ + ("assignment_variation_id_key", "anchor_variation_id_key"), + ("assignment_rsid_key", "anchor_rsid_key"), + ("assignment_hgvs_key", "anchor_hgvs_key"), + ] + for assignment_col, anchor_col in key_pairs: + if assignment_col not in assignments.columns or anchor_col not in anchor_keys.columns: + continue + keys = set(anchor_keys[anchor_col].dropna().astype(str)) + if keys: + flags |= assignments[assignment_col].astype(str).isin(keys) + return flags + + +def load_anchor(path: Path | None, anchor_name: str) -> pd.DataFrame: + if path is None: + return pd.DataFrame(columns=["anchor", "anchor_variation_id_key", "anchor_rsid_key", "anchor_hgvs_key", "anchor_phenotype_text"]) + frame = read_any(path) + return build_anchor_keys(frame, anchor_name) + + +def summarize(overlay: pd.DataFrame) -> pd.DataFrame: + rows = [] + for anchor_col in ["svad_overlap_flag", "lqts_lovd_overlap_flag", "any_external_anchor_flag"]: + if anchor_col not in overlay: + continue + for value, group in overlay.groupby(anchor_col): + rows.append( + { + "anchor_flag": anchor_col, + "flag_value": bool(value), + "n_assertions": len(group), + "collision_fraction": group["is_disease_model_collision"].mean(), + "unanchored_fraction": group["is_unanchored_assertion_state"].mean(), + "canonical_fraction": group["is_canonical_monogenic"].mean(), + "sads_fraction": group["condition_groups"].astype(str).str.contains("SADS", regex=False).mean(), + "lqts_fraction": group["condition_groups"].astype(str).str.contains("LQTS", regex=False).mean(), + "median_condition_entropy": group["condition_entropy"].median(), + "median_popmax_af": group["popmax_af"].median(), + } + ) + return pd.DataFrame(rows) + + +def write_report(summary: pd.DataFrame, svad_path: Path | None, lovd_path: Path | None, overlay: pd.DataFrame) -> None: + REPORT_DIR.mkdir(parents=True, exist_ok=True) + text = f"""# CAB external anchor overlay report + +## Inputs + +- SVAD file: `{svad_path.relative_to(BASE_DIR) if svad_path else 'not found'}` +- LQTS LOVD file: `{lovd_path.relative_to(BASE_DIR) if lovd_path else 'not found'}` + +## Overlap counts + +- SVAD overlap: {int(overlay['svad_overlap_flag'].sum()):,} / {len(overlay):,} +- LQTS LOVD overlap: {int(overlay['lqts_lovd_overlap_flag'].sum()):,} / {len(overlay):,} +- Any external anchor overlap: {int(overlay['any_external_anchor_flag'].sum()):,} / {len(overlay):,} + +## Anchor summary + +```text +{summary.to_string(index=False) if not summary.empty else 'No external anchor files found or no overlaps.'} +``` + +## Interpretation boundary + +External resources are used as biological anchors, not truth labels. SVAD is treated as a sudden-death/literature anchor, while LQTS LOVD is treated as a phenotype-linked LQTS anchor. Absence from either resource is not evidence of absence. +""" + REPORT_OUT.write_text(text, encoding="utf-8") + + +def main() -> None: + parser = argparse.ArgumentParser(description="Overlay CAB regimes with SVAD and LQTS LOVD external anchors.") + parser.add_argument("--assignments", type=Path, default=DEFAULT_ASSIGNMENTS) + parser.add_argument("--svad", type=Path, default=None) + parser.add_argument("--lovd", type=Path, default=None) + args = parser.parse_args() + if not args.assignments.exists(): + raise FileNotFoundError(args.assignments) + svad_path = args.svad or first_existing(SVAD_CANDIDATES) + lovd_path = args.lovd or first_existing(LOVD_CANDIDATES) + assignments = build_assignment_keys(pd.read_csv(args.assignments, low_memory=False)) + svad_keys = load_anchor(svad_path, "SVAD") + lovd_keys = load_anchor(lovd_path, "LQTS_LOVD") + assignments["svad_overlap_flag"] = mark_anchor(assignments, svad_keys, "SVAD") + assignments["lqts_lovd_overlap_flag"] = mark_anchor(assignments, lovd_keys, "LQTS_LOVD") + assignments["any_external_anchor_flag"] = assignments["svad_overlap_flag"] | assignments["lqts_lovd_overlap_flag"] + summary = summarize(assignments) + DATA_DIR.mkdir(parents=True, exist_ok=True) + assignments.to_csv(OVERLAY_OUT, index=False) + summary.to_csv(SUMMARY_OUT, index=False) + write_report(summary, svad_path, lovd_path, assignments) + print(f"wrote {OVERLAY_OUT.relative_to(BASE_DIR)}") + print(f"wrote {SUMMARY_OUT.relative_to(BASE_DIR)}") + print(f"wrote {REPORT_OUT.relative_to(BASE_DIR)}") + print("\nExternal anchor summary:") + print(summary.to_string(index=False) if not summary.empty else "No external anchor files found or no overlaps.") + + +if __name__ == "__main__": + main() From 5d341bb044ca40c942d89e293095a3b9f4db3c47 Mon Sep 17 00:00:00 2001 From: Anere Cye Date: Sun, 3 May 2026 03:22:15 +0500 Subject: [PATCH 6/9] Add MUSIC electrical-risk phenotype proxy analysis --- src/run_cab_music_electrical_risk_proxy.py | 293 +++++++++++++++++++++ 1 file changed, 293 insertions(+) create mode 100644 src/run_cab_music_electrical_risk_proxy.py diff --git a/src/run_cab_music_electrical_risk_proxy.py b/src/run_cab_music_electrical_risk_proxy.py new file mode 100644 index 0000000..8654f20 --- /dev/null +++ b/src/run_cab_music_electrical_risk_proxy.py @@ -0,0 +1,293 @@ +from __future__ import annotations + +"""MUSIC electrical-risk phenotype proxy analysis. + +This script implements the second path: do not infer SCD from uninterpretable +cause-of-death codes. Instead, build an ECG/Holter-derived electrical-risk +phenotype proxy from variables that are directly present in MUSIC. + +The proxy is not a clinical score and not a sudden-death label. It is an +orthogonal phenotype-first anchor for CAB: an example of arrhythmia risk being +represented through electrophysiology rather than variant assertions. +""" + +from pathlib import Path +import re + +import numpy as np +import pandas as pd + +BASE_DIR = Path(__file__).resolve().parents[1] +RAW_DIR = BASE_DIR / "data" / "raw" / "music" +OUT_DIR = BASE_DIR / "data" / "processed" +REPORT_DIR = BASE_DIR / "reports" + +INPUT = RAW_DIR / "subject-info.csv" +PATIENT_OUT = OUT_DIR / "cab_music_electrical_risk_patient_level.csv" +SUMMARY_OUT = OUT_DIR / "cab_music_electrical_risk_summary.csv" +CAUSE_CODE_OUT = OUT_DIR / "cab_music_electrical_risk_by_cause_code.csv" +REPORT_OUT = REPORT_DIR / "cab_music_electrical_risk_proxy_report.md" + + +def clean_column_name(name: str) -> str: + name = str(name).strip().lower() + name = name.replace("?", "micro") + name = name.replace("%", "percent") + name = name.replace(">", "gt") + name = name.replace("<", "lt") + name = name.replace("=", "eq") + name = name.replace("/", "_per_") + name = name.replace("-", "_") + name = name.replace("(", "") + name = name.replace(")", "") + name = re.sub(r"[^a-z0-9]+", "_", name) + name = re.sub(r"_+", "_", name).strip("_") + return name + + +def make_unique_columns(columns: list[str]) -> list[str]: + seen: dict[str, int] = {} + out = [] + for col in columns: + base = clean_column_name(col) + if base not in seen: + seen[base] = 0 + out.append(base) + else: + seen[base] += 1 + out.append(f"{base}_{seen[base]}") + return out + + +def to_num(df: pd.DataFrame, col: str) -> pd.Series: + if col not in df.columns: + return pd.Series(np.nan, index=df.index) + obj = df[col] + if isinstance(obj, pd.DataFrame): + obj = obj.iloc[:, 0] + return pd.to_numeric(obj, errors="coerce") + + +def safe_bool(series: pd.Series) -> pd.Series: + return series.fillna(False).astype(bool) + + +def build_proxy(df: pd.DataFrame) -> pd.DataFrame: + out = df.copy() + + age = to_num(out, "age") + sex_male = to_num(out, "gender_maleeq1") + qtc = to_num(out, "qt_corrected") + qt = to_num(out, "qt_interval_ms") + qrs = to_num(out, "qrs_duration_ms") + qrs_gt_120 = to_num(out, "qrs_gt_120_ms") + syncope = to_num(out, "syncope") + lvef = to_num(out, "lvef_percent") + vpb_24h = to_num(out, "number_of_ventricular_premature_beats_in_24h") + vpc_hour = to_num(out, "number_of_ventricular_premature_contractions_per_hour") + vt = to_num(out, "ventricular_tachycardia") + nsvt = to_num(out, "non_sustained_ventricular_tachycardia_chgt10") + sdnn = to_num(out, "sdnn_ms") + rmssd = to_num(out, "rmssd_ms") + + # Conservative electrophysiology flags. These are risk proxies, not diagnoses. + out["music_qtc_prolonged_flag"] = ((sex_male.eq(1) & qtc.gt(450)) | (sex_male.eq(0) & qtc.gt(470))) + out["music_qtc_severe_flag"] = qtc.ge(500) + out["music_qrs_wide_flag"] = qrs.gt(120) | qrs_gt_120.eq(1) + out["music_syncope_flag"] = syncope.gt(0) + out["music_low_lvef_flag"] = lvef.le(35) + out["music_vt_flag"] = vt.gt(0) + out["music_nsvt_flag"] = nsvt.eq(1) + out["music_vpb_burden_high_flag"] = vpb_24h.ge(1000) | vpc_hour.ge(40) + out["music_hrv_low_flag"] = sdnn.lt(70) | rmssd.lt(20) + + risk_flags = [ + "music_qtc_prolonged_flag", + "music_qtc_severe_flag", + "music_qrs_wide_flag", + "music_syncope_flag", + "music_low_lvef_flag", + "music_vt_flag", + "music_nsvt_flag", + "music_vpb_burden_high_flag", + "music_hrv_low_flag", + ] + for flag in risk_flags: + out[flag] = safe_bool(out[flag]) + + # Weighted proxy: lethal-ish electrophysiology gets more weight than generic markers. + weights = { + "music_qtc_prolonged_flag": 1.0, + "music_qtc_severe_flag": 2.0, + "music_qrs_wide_flag": 1.0, + "music_syncope_flag": 1.0, + "music_low_lvef_flag": 1.0, + "music_vt_flag": 2.0, + "music_nsvt_flag": 2.0, + "music_vpb_burden_high_flag": 1.5, + "music_hrv_low_flag": 1.0, + } + out["music_electrical_risk_score"] = sum(out[col].astype(float) * weight for col, weight in weights.items()) + out["music_electrical_risk_flag"] = out["music_electrical_risk_score"].ge(3.0) + out["music_electrical_risk_high_flag"] = out["music_electrical_risk_score"].ge(5.0) + + # Raw numeric columns retained for reportability. + for name, series in { + "music_age": age, + "music_qtc": qtc, + "music_qt": qt, + "music_qrs": qrs, + "music_lvef": lvef, + "music_vpb_24h": vpb_24h, + "music_vpc_hour": vpc_hour, + "music_sdnn": sdnn, + "music_rmssd": rmssd, + }.items(): + out[name] = series + + return out + + +def summarize_flags(df: pd.DataFrame) -> pd.DataFrame: + flags = [c for c in df.columns if c.startswith("music_") and c.endswith("_flag")] + rows = [] + for flag in flags: + n_true = int(df[flag].sum()) + n_total = int(df[flag].notna().sum()) + rows.append({"flag": flag, "n_true": n_true, "n_total": n_total, "percent": 100.0 * n_true / n_total if n_total else np.nan}) + rows.append({ + "flag": "music_electrical_risk_score_median", + "n_true": float(df["music_electrical_risk_score"].median()), + "n_total": len(df), + "percent": np.nan, + }) + rows.append({ + "flag": "music_electrical_risk_score_mean", + "n_true": float(df["music_electrical_risk_score"].mean()), + "n_total": len(df), + "percent": np.nan, + }) + return pd.DataFrame(rows) + + +def summarize_by_cause_code(df: pd.DataFrame) -> pd.DataFrame: + if "cause_of_death" not in df.columns: + return pd.DataFrame() + tmp = df.copy() + tmp["cause_of_death"] = tmp["cause_of_death"].astype(str) + return ( + tmp.groupby("cause_of_death", dropna=False) + .agg( + n=("patient_id", "size") if "patient_id" in tmp.columns else ("music_electrical_risk_score", "size"), + electrical_risk_mean=("music_electrical_risk_score", "mean"), + electrical_risk_median=("music_electrical_risk_score", "median"), + electrical_risk_flag_fraction=("music_electrical_risk_flag", "mean"), + electrical_risk_high_fraction=("music_electrical_risk_high_flag", "mean"), + qtc_median=("music_qtc", "median"), + qrs_median=("music_qrs", "median"), + lvef_median=("music_lvef", "median"), + vpb_24h_median=("music_vpb_24h", "median"), + nsvt_fraction=("music_nsvt_flag", "mean"), + vt_fraction=("music_vt_flag", "mean"), + syncope_fraction=("music_syncope_flag", "mean"), + ) + .reset_index() + .sort_values("n", ascending=False) + ) + + +def write_report(df: pd.DataFrame, flag_summary: pd.DataFrame, by_cause: pd.DataFrame) -> None: + REPORT_DIR.mkdir(parents=True, exist_ok=True) + n = len(df) + risk_n = int(df["music_electrical_risk_flag"].sum()) + high_n = int(df["music_electrical_risk_high_flag"].sum()) + cause_counts = df["cause_of_death"].value_counts(dropna=False).to_string() if "cause_of_death" in df.columns else "No cause_of_death column" + text = f"""# CAB MUSIC electrical-risk phenotype proxy report + +## Purpose + +This analysis follows the conservative second path: because public cause-of-death codes in the local MUSIC files were not semantically decoded, the script does not infer SCD labels. Instead, it constructs an ECG/Holter-derived electrical-risk phenotype proxy from directly measured variables. + +## Cohort + +- Patients: {n:,} +- Electrical-risk proxy positive, score >= 3.0: {risk_n:,} ({(100.0 * risk_n / n if n else 0.0):.2f}%) +- High electrical-risk proxy, score >= 5.0: {high_n:,} ({(100.0 * high_n / n if n else 0.0):.2f}%) + +## Cause-of-death code counts, not semantically decoded + +```text +{cause_counts} +``` + +## Flag summary + +```text +{flag_summary.to_string(index=False)} +``` + +## Electrical-risk proxy by cause-of-death code + +```text +{by_cause.to_string(index=False) if not by_cause.empty else 'No cause-of-death code summary available.'} +``` + +## Interpretation boundary + +This is not a patient-level SCD classifier and not a clinical risk score. It is a phenotype-first anchor showing that MUSIC contains directly measurable electrophysiological risk structure independent of genetic variant assertions. Cause-of-death code groups are reported descriptively until the MUSIC codebook mapping is verified. +""" + REPORT_OUT.write_text(text, encoding="utf-8") + + +def main() -> None: + if not INPUT.exists(): + raise FileNotFoundError(f"Missing MUSIC file: {INPUT}") + OUT_DIR.mkdir(parents=True, exist_ok=True) + df = pd.read_csv(INPUT, sep=";", low_memory=False) + df.columns = make_unique_columns(df.columns.tolist()) + proxy = build_proxy(df) + flag_summary = summarize_flags(proxy) + by_cause = summarize_by_cause_code(proxy) + + keep_cols = [ + "patient_id", + "cause_of_death", + "exit_of_the_study", + "music_electrical_risk_score", + "music_electrical_risk_flag", + "music_electrical_risk_high_flag", + "music_qtc_prolonged_flag", + "music_qtc_severe_flag", + "music_qrs_wide_flag", + "music_syncope_flag", + "music_low_lvef_flag", + "music_vt_flag", + "music_nsvt_flag", + "music_vpb_burden_high_flag", + "music_hrv_low_flag", + "music_qtc", + "music_qt", + "music_qrs", + "music_lvef", + "music_vpb_24h", + "music_sdnn", + "music_rmssd", + ] + keep_cols = [c for c in keep_cols if c in proxy.columns] + proxy[keep_cols].to_csv(PATIENT_OUT, index=False) + flag_summary.to_csv(SUMMARY_OUT, index=False) + by_cause.to_csv(CAUSE_CODE_OUT, index=False) + write_report(proxy, flag_summary, by_cause) + + print(f"wrote {PATIENT_OUT.relative_to(BASE_DIR)}") + print(f"wrote {SUMMARY_OUT.relative_to(BASE_DIR)}") + print(f"wrote {CAUSE_CODE_OUT.relative_to(BASE_DIR)}") + print(f"wrote {REPORT_OUT.relative_to(BASE_DIR)}") + print("\nElectrical risk flag summary:") + print(flag_summary.to_string(index=False)) + print("\nElectrical risk by cause-of-death code:") + print(by_cause.to_string(index=False) if not by_cause.empty else "No cause-of-death code summary available.") + + +if __name__ == "__main__": + main() From a5d76496351b429daff2ecfc9de4e23472e1889b Mon Sep 17 00:00:00 2001 From: anere Date: Sun, 3 May 2026 03:23:38 +0500 Subject: [PATCH 7/9] Add MUSIC electrical-risk phenotype anchor --- ...ab_music_electrical_risk_by_cause_code.csv | 6 + ...ab_music_electrical_risk_patient_level.csv | 993 ++++++++++++++++++ .../cab_music_electrical_risk_summary.csv | 14 + .../cab_music_electrical_risk_proxy_report.md | 56 + 4 files changed, 1069 insertions(+) create mode 100644 data/processed/cab_music_electrical_risk_by_cause_code.csv create mode 100644 data/processed/cab_music_electrical_risk_patient_level.csv create mode 100644 data/processed/cab_music_electrical_risk_summary.csv create mode 100644 reports/cab_music_electrical_risk_proxy_report.md diff --git a/data/processed/cab_music_electrical_risk_by_cause_code.csv b/data/processed/cab_music_electrical_risk_by_cause_code.csv new file mode 100644 index 0000000..e3b2adf --- /dev/null +++ b/data/processed/cab_music_electrical_risk_by_cause_code.csv @@ -0,0 +1,6 @@ +cause_of_death,n,electrical_risk_mean,electrical_risk_median,electrical_risk_flag_fraction,electrical_risk_high_fraction,qtc_median,qrs_median,lvef_median,vpb_24h_median,nsvt_fraction,vt_fraction,syncope_fraction +0,726,3.309228650137741,2.5,0.49449035812672176,0.30303030303030304,438.0,113.0,35.0,195.0,0.24104683195592286,0.31267217630853994,0.14325068870523416 +6,100,4.935,5.0,0.71,0.51,457.0,133.0,30.0,800.0,0.44,0.54,0.18 +3,94,4.675531914893617,4.5,0.6595744680851063,0.5,445.5,126.0,30.0,1022.5,0.425531914893617,0.46808510638297873,0.14893617021276595 +1,61,3.778688524590164,3.5,0.6229508196721312,0.3770491803278688,441.0,118.0,33.5,349.0,0.26229508196721313,0.3770491803278688,0.14754098360655737 +7,11,3.0,2.0,0.45454545454545453,0.36363636363636365,426.0,100.0,35.0,547.0,0.18181818181818182,0.18181818181818182,0.2727272727272727 diff --git a/data/processed/cab_music_electrical_risk_patient_level.csv b/data/processed/cab_music_electrical_risk_patient_level.csv new file mode 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--- /dev/null +++ b/data/processed/cab_music_electrical_risk_summary.csv @@ -0,0 +1,14 @@ +flag,n_true,n_total,percent +music_qtc_prolonged_flag,373.0,992,37.600806451612904 +music_qtc_severe_flag,123.0,992,12.399193548387096 +music_qrs_wide_flag,454.0,992,45.766129032258064 +music_syncope_flag,148.0,992,14.919354838709678 +music_low_lvef_flag,547.0,992,55.141129032258064 +music_vt_flag,350.0,992,35.28225806451613 +music_nsvt_flag,277.0,992,27.923387096774192 +music_vpb_burden_high_flag,302.0,992,30.443548387096776 +music_hrv_low_flag,124.0,992,12.5 +music_electrical_risk_flag,535.0,992,53.931451612903224 +music_electrical_risk_high_flag,345.0,992,34.778225806451616 +music_electrical_risk_score_median,3.0,992, +music_electrical_risk_score_mean,3.628024193548387,992, diff --git a/reports/cab_music_electrical_risk_proxy_report.md b/reports/cab_music_electrical_risk_proxy_report.md new file mode 100644 index 0000000..2da6bc0 --- /dev/null +++ b/reports/cab_music_electrical_risk_proxy_report.md @@ -0,0 +1,56 @@ +# CAB MUSIC electrical-risk phenotype proxy report + +## Purpose + +This analysis follows the conservative second path: because public cause-of-death codes in the local MUSIC files were not semantically decoded, the script does not infer SCD labels. Instead, it constructs an ECG/Holter-derived electrical-risk phenotype proxy from directly measured variables. + +## Cohort + +- Patients: 992 +- Electrical-risk proxy positive, score >= 3.0: 535 (53.93%) +- High electrical-risk proxy, score >= 5.0: 345 (34.78%) + +## Cause-of-death code counts, not semantically decoded + +```text +cause_of_death +0 726 +6 100 +3 94 +1 61 +7 11 +``` + +## Flag summary + +```text + flag n_true n_total percent + music_qtc_prolonged_flag 373.000000 992 37.600806 + music_qtc_severe_flag 123.000000 992 12.399194 + music_qrs_wide_flag 454.000000 992 45.766129 + music_syncope_flag 148.000000 992 14.919355 + music_low_lvef_flag 547.000000 992 55.141129 + music_vt_flag 350.000000 992 35.282258 + music_nsvt_flag 277.000000 992 27.923387 + music_vpb_burden_high_flag 302.000000 992 30.443548 + music_hrv_low_flag 124.000000 992 12.500000 + music_electrical_risk_flag 535.000000 992 53.931452 + music_electrical_risk_high_flag 345.000000 992 34.778226 +music_electrical_risk_score_median 3.000000 992 NaN + music_electrical_risk_score_mean 3.628024 992 NaN +``` + +## Electrical-risk proxy by cause-of-death code + +```text +cause_of_death n electrical_risk_mean electrical_risk_median electrical_risk_flag_fraction electrical_risk_high_fraction qtc_median qrs_median lvef_median vpb_24h_median nsvt_fraction vt_fraction syncope_fraction + 0 726 3.309229 2.5 0.494490 0.303030 438.0 113.0 35.0 195.0 0.241047 0.312672 0.143251 + 6 100 4.935000 5.0 0.710000 0.510000 457.0 133.0 30.0 800.0 0.440000 0.540000 0.180000 + 3 94 4.675532 4.5 0.659574 0.500000 445.5 126.0 30.0 1022.5 0.425532 0.468085 0.148936 + 1 61 3.778689 3.5 0.622951 0.377049 441.0 118.0 33.5 349.0 0.262295 0.377049 0.147541 + 7 11 3.000000 2.0 0.454545 0.363636 426.0 100.0 35.0 547.0 0.181818 0.181818 0.272727 +``` + +## Interpretation boundary + +This is not a patient-level SCD classifier and not a clinical risk score. It is a phenotype-first anchor showing that MUSIC contains directly measurable electrophysiological risk structure independent of genetic variant assertions. Cause-of-death code groups are reported descriptively until the MUSIC codebook mapping is verified. From 1f9d40b92088220cecffb580c27ce66346c3c63f Mon Sep 17 00:00:00 2001 From: Anere Cye Date: Sun, 3 May 2026 03:25:27 +0500 Subject: [PATCH 8/9] Add CAB inference architecture integration map --- src/run_cab_inference_architecture_map.py | 259 ++++++++++++++++++++++ 1 file changed, 259 insertions(+) create mode 100644 src/run_cab_inference_architecture_map.py diff --git a/src/run_cab_inference_architecture_map.py b/src/run_cab_inference_architecture_map.py new file mode 100644 index 0000000..ee2d192 --- /dev/null +++ b/src/run_cab_inference_architecture_map.py @@ -0,0 +1,259 @@ +from __future__ import annotations + +"""CAB inference architecture map. + +This integration layer does not join unrelated patient cohorts. It composes the +argument across data levels: + +1. CAB variant-assertion regimes: genotype assertion landscape. +2. Clinical inference overlay: diagnostic environments for arrhythmia labels. +3. MUSIC electrical-risk proxy: phenotype-first ECG/Holter risk environment. + +The output is a manuscript-facing summary showing that inherited-arrhythmia +interpretation occupies multiple non-equivalent inference regimes rather than a +single genotype-to-disease model. +""" + +from pathlib import Path +import pandas as pd +import numpy as np + +BASE_DIR = Path(__file__).resolve().parents[1] +DATA_DIR = BASE_DIR / "data" / "processed" +REPORT_DIR = BASE_DIR / "reports" + +REGIME_SUMMARY = DATA_DIR / "cab_biological_regime_summary.csv" +SENSITIVITY = DATA_DIR / "cab_biological_regime_sensitivity.csv" +CLINICAL_SUMMARY = DATA_DIR / "cab_clinical_inference_summary.csv" +REGIME_BY_ENV = DATA_DIR / "cab_regime_by_clinical_environment.csv" +MUSIC_FLAG_SUMMARY = DATA_DIR / "cab_music_electrical_risk_summary.csv" +MUSIC_BY_CAUSE = DATA_DIR / "cab_music_electrical_risk_by_cause_code.csv" + +ARCHITECTURE_OUT = DATA_DIR / "cab_inference_architecture_map.csv" +REPORT_OUT = REPORT_DIR / "cab_inference_architecture_map_report.md" +MANUSCRIPT_OUT = REPORT_DIR / "cab_inference_architecture_results_block.md" + + +def read_csv_or_empty(path: Path) -> pd.DataFrame: + if path.exists(): + return pd.read_csv(path) + return pd.DataFrame() + + +def pct(value: float) -> str: + if pd.isna(value): + return "NA" + return f"{value:.1f}%" + + +def get_regime_percent(regime_summary: pd.DataFrame, regime: str) -> float: + if regime_summary.empty or "primary_regime" not in regime_summary.columns: + return np.nan + row = regime_summary[regime_summary["primary_regime"].eq(regime)] + if row.empty: + return 0.0 + return float(row.iloc[0]["percent"]) + + +def get_regime_n(regime_summary: pd.DataFrame, regime: str) -> int: + if regime_summary.empty or "primary_regime" not in regime_summary.columns: + return 0 + row = regime_summary[regime_summary["primary_regime"].eq(regime)] + if row.empty: + return 0 + return int(row.iloc[0]["n_assertions"]) + + +def build_architecture_table( + regime_summary: pd.DataFrame, + clinical_summary: pd.DataFrame, + music_summary: pd.DataFrame, +) -> pd.DataFrame: + rows = [] + + total_assertions = int(regime_summary["n_assertions"].sum()) if not regime_summary.empty else 0 + collision_pct = get_regime_percent(regime_summary, "disease_model_collision") + unanchored_pct = get_regime_percent(regime_summary, "unanchored_assertion_state") + canonical_pct = get_regime_percent(regime_summary, "canonical_monogenic") + rows.append( + { + "architecture_layer": "variant_assertion_landscape", + "data_source": "ClinVar + gnomAD-derived CAB outputs", + "unit_of_analysis": "public P/LP assertion", + "n_units": total_assertions, + "dominant_signal": "disease-model collision plus unanchored assertion states", + "key_metric": "collision + unanchored percent", + "key_value": collision_pct + unanchored_pct, + "interpretation": "Public P/LP assertions mostly do not occupy clean canonical monogenic states after allele, population, and disease-model projection.", + } + ) + rows.append( + { + "architecture_layer": "canonical_mendelian_minor_state", + "data_source": "ClinVar + gnomAD-derived CAB outputs", + "unit_of_analysis": "public P/LP assertion", + "n_units": get_regime_n(regime_summary, "canonical_monogenic"), + "dominant_signal": "canonical monogenic minority", + "key_metric": "canonical percent", + "key_value": canonical_pct, + "interpretation": "The classical clean Mendelian arrhythmia assertion state is present but small relative to collision and anchoring-fragile states.", + } + ) + + if not clinical_summary.empty: + for _, row in clinical_summary.iterrows(): + disease_group = row.get("clinical_disease_group", "unknown") + inference_mode = row.get("inference_mode", "unknown") + rows.append( + { + "architecture_layer": "clinical_inference_environment", + "data_source": "CAB clinical inference overlay", + "unit_of_analysis": disease_group, + "n_units": int(row.get("n_assertions", 0)), + "dominant_signal": inference_mode, + "key_metric": "collision fraction", + "key_value": float(row.get("collision_fraction", np.nan)) * 100.0, + "interpretation": f"{disease_group} assertions occupy a {inference_mode} diagnostic environment rather than a generic variant-label space.", + } + ) + + if not music_summary.empty: + lookup = dict(zip(music_summary["flag"], music_summary["percent"])) if "flag" in music_summary.columns else {} + risk_pct = lookup.get("music_electrical_risk_flag", np.nan) + high_pct = lookup.get("music_electrical_risk_high_flag", np.nan) + rows.append( + { + "architecture_layer": "phenotype_first_electrical_risk_anchor", + "data_source": "MUSIC SCD heart-failure cohort subject-info.csv", + "unit_of_analysis": "patient ECG/Holter phenotype", + "n_units": 992, + "dominant_signal": "measured electrical-risk burden without variant data", + "key_metric": "electrical-risk proxy percent", + "key_value": float(risk_pct) if not pd.isna(risk_pct) else np.nan, + "interpretation": "Arrhythmia-related risk can be represented through measured ECG/Holter phenotypes independently of genotype assertions.", + } + ) + rows.append( + { + "architecture_layer": "phenotype_first_high_risk_anchor", + "data_source": "MUSIC SCD heart-failure cohort subject-info.csv", + "unit_of_analysis": "patient ECG/Holter phenotype", + "n_units": 992, + "dominant_signal": "high electrical-risk burden without variant data", + "key_metric": "high electrical-risk proxy percent", + "key_value": float(high_pct) if not pd.isna(high_pct) else np.nan, + "interpretation": "A substantial phenotype-first subset occupies a high-risk electrical state, forming the opposite pole from genotype-first SADS inference.", + } + ) + + return pd.DataFrame(rows) + + +def write_report( + architecture: pd.DataFrame, + regime_summary: pd.DataFrame, + sensitivity: pd.DataFrame, + clinical_summary: pd.DataFrame, + music_summary: pd.DataFrame, + music_by_cause: pd.DataFrame, +) -> None: + REPORT_DIR.mkdir(parents=True, exist_ok=True) + + collision_pct = get_regime_percent(regime_summary, "disease_model_collision") + unanchored_pct = get_regime_percent(regime_summary, "unanchored_assertion_state") + canonical_pct = get_regime_percent(regime_summary, "canonical_monogenic") + collision_unanchored = collision_pct + unanchored_pct + sens_min = float(sensitivity["collision_plus_unanchored_percent"].min()) if not sensitivity.empty and "collision_plus_unanchored_percent" in sensitivity.columns else np.nan + sens_max_canonical = float(sensitivity["canonical_monogenic_percent"].max()) if not sensitivity.empty and "canonical_monogenic_percent" in sensitivity.columns else np.nan + + music_risk = np.nan + music_high = np.nan + if not music_summary.empty and "flag" in music_summary.columns: + lookup = dict(zip(music_summary["flag"], music_summary["percent"])) + music_risk = lookup.get("music_electrical_risk_flag", np.nan) + music_high = lookup.get("music_electrical_risk_high_flag", np.nan) + + report = f"""# CAB inference architecture map + +## Core architecture + +The integrated CAB map combines three non-equivalent evidence levels: + +1. Variant-assertion landscape: public P/LP assertions projected through allele anchoring, population context, and disease-model logic. +2. Clinical inference environments: disease labels mapped to phenotype-first, provocation-dependent, structural-electrical, intermittent, and genotype-first/postmortem contexts. +3. MUSIC electrical-risk anchor: a phenotype-first ECG/Holter risk environment without variant-level genetics. + +## Key results + +- Disease-model collision: {pct(collision_pct)} +- Unanchored assertion state: {pct(unanchored_pct)} +- Collision + unanchored: {pct(collision_unanchored)} +- Canonical monogenic: {pct(canonical_pct)} +- Sensitivity minimum for collision + unanchored: {pct(sens_min)} +- Sensitivity maximum for canonical monogenic: {pct(sens_max_canonical)} +- MUSIC electrical-risk proxy positive: {pct(music_risk)} +- MUSIC high electrical-risk proxy: {pct(music_high)} + +## Architecture table + +```text +{architecture.to_string(index=False)} +``` + +## Clinical inference environment summary + +```text +{clinical_summary.to_string(index=False) if not clinical_summary.empty else 'Missing clinical inference summary.'} +``` + +## MUSIC electrical-risk summary + +```text +{music_summary.to_string(index=False) if not music_summary.empty else 'Missing MUSIC electrical-risk summary.'} +``` + +## MUSIC electrical-risk by cause-of-death code + +```text +{music_by_cause.to_string(index=False) if not music_by_cause.empty else 'Missing MUSIC cause-code summary.'} +``` + +## Interpretation boundary + +The integrated map does not join unrelated patient cohorts and does not infer variant-level causality from MUSIC. It shows that inherited-arrhythmia interpretation is distributed across genotype-first, phenotype-first, population-anchored, and disease-model-collision regimes. +""" + REPORT_OUT.write_text(report, encoding="utf-8") + + manuscript = f"""# Manuscript results block: inference architecture map + +To integrate the variant-centered and phenotype-centered analyses, we constructed a CAB inference architecture map across three evidence levels. At the variant-assertion level, public inherited-arrhythmia P/LP assertions remained dominated by disease-model collision and unanchored assertion states, which together accounted for {collision_unanchored:.1f}% of assertions, whereas canonical monogenic assertions represented only {canonical_pct:.1f}%. This architecture was robust across sensitivity analyses, with collision plus unanchored regimes remaining at least {sens_min:.1f}% across tested parameterizations. + +Mapping assertions onto clinical inference environments showed that arrhythmia disease labels do not share a single genotype-to-disease logic. LQTS occupied an ECG/QTc-anchored phenotype-first environment, whereas Brugada and CPVT occupied context- or provocation-dependent environments, cardiomyopathy-overlap assertions occupied a structural-electrical hybrid environment, and SADS occupied a genotype-first/postmortem environment. + +As an orthogonal phenotype-first anchor, MUSIC showed that electrical risk can also be represented without variant data. An ECG/Holter-derived electrical-risk proxy identified {music_risk:.1f}% of MUSIC patients as risk-positive and {music_high:.1f}% as high-risk. Thus, CAB assertions occupy an intermediate interpretive space between genotype-first death inference and phenotype-first electrophysiological risk measurement. Together, these analyses support the central claim that public P/LP assertions behave as context-sensitive probes of inherited-arrhythmia disease architecture rather than static, portable disease labels. +""" + MANUSCRIPT_OUT.write_text(manuscript, encoding="utf-8") + + +def main() -> None: + regime_summary = read_csv_or_empty(REGIME_SUMMARY) + sensitivity = read_csv_or_empty(SENSITIVITY) + clinical_summary = read_csv_or_empty(CLINICAL_SUMMARY) + regime_by_env = read_csv_or_empty(REGIME_BY_ENV) + music_summary = read_csv_or_empty(MUSIC_FLAG_SUMMARY) + music_by_cause = read_csv_or_empty(MUSIC_BY_CAUSE) + + architecture = build_architecture_table(regime_summary, clinical_summary, music_summary) + DATA_DIR.mkdir(parents=True, exist_ok=True) + architecture.to_csv(ARCHITECTURE_OUT, index=False) + write_report(architecture, regime_summary, sensitivity, clinical_summary, music_summary, music_by_cause) + + print(f"wrote {ARCHITECTURE_OUT.relative_to(BASE_DIR)}") + print(f"wrote {REPORT_OUT.relative_to(BASE_DIR)}") + print(f"wrote {MANUSCRIPT_OUT.relative_to(BASE_DIR)}") + print("\nCAB inference architecture map:") + print(architecture.to_string(index=False)) + + +if __name__ == "__main__": + main() From 7c0b324b1ed80f88b78e4b62538b82b5d4b1180c Mon Sep 17 00:00:00 2001 From: anere Date: Sun, 3 May 2026 03:26:46 +0500 Subject: [PATCH 9/9] Add CAB inference architecture map --- .../cab_inference_architecture_map.csv | 13 +++ .../cab_inference_architecture_map_report.md | 86 +++++++++++++++++++ ...ab_inference_architecture_results_block.md | 7 ++ 3 files changed, 106 insertions(+) create mode 100644 data/processed/cab_inference_architecture_map.csv create mode 100644 reports/cab_inference_architecture_map_report.md create mode 100644 reports/cab_inference_architecture_results_block.md diff --git a/data/processed/cab_inference_architecture_map.csv b/data/processed/cab_inference_architecture_map.csv new file mode 100644 index 0000000..7ab845f --- /dev/null +++ b/data/processed/cab_inference_architecture_map.csv @@ -0,0 +1,13 @@ +architecture_layer,data_source,unit_of_analysis,n_units,dominant_signal,key_metric,key_value,interpretation +variant_assertion_landscape,ClinVar + gnomAD-derived CAB outputs,public P/LP assertion,1731,disease-model collision plus unanchored assertion states,collision + unanchored percent,92.7787406123628,"Public P/LP assertions mostly do not occupy clean canonical monogenic states after allele, population, and disease-model projection." +canonical_mendelian_minor_state,ClinVar + gnomAD-derived CAB outputs,public P/LP assertion,87,canonical monogenic minority,canonical percent,5.025996533795494,The classical clean Mendelian arrhythmia assertion state is present but small relative to collision and anchoring-fragile states. +clinical_inference_environment,CAB clinical inference overlay,LQTS,883,phenotype-first with genotype support,collision fraction,18.45979614949037,LQTS assertions occupy a phenotype-first with genotype support diagnostic environment rather than a generic variant-label space. +clinical_inference_environment,CAB clinical inference overlay,SADS,310,genotype-first/postmortem,collision fraction,100.0,SADS assertions occupy a genotype-first/postmortem diagnostic environment rather than a generic variant-label space. +clinical_inference_environment,CAB clinical inference overlay,CPVT,258,provocation-dependent,collision fraction,100.0,CPVT assertions occupy a provocation-dependent diagnostic environment rather than a generic variant-label space. +clinical_inference_environment,CAB clinical inference overlay,Brugada,181,context/provocation-dependent,collision fraction,92.81767955801104,Brugada assertions occupy a context/provocation-dependent diagnostic environment rather than a generic variant-label space. +clinical_inference_environment,CAB clinical inference overlay,arrhythmia,50,intermittent rhythm phenotype,collision fraction,52.0,arrhythmia assertions occupy a intermittent rhythm phenotype diagnostic environment rather than a generic variant-label space. +clinical_inference_environment,CAB clinical inference overlay,SQTS,23,phenotype-first with genotype support,collision fraction,95.65217391304348,SQTS assertions occupy a phenotype-first with genotype support diagnostic environment rather than a generic variant-label space. +clinical_inference_environment,CAB clinical inference overlay,cardiomyopathy_overlap,17,structural-electrical hybrid,collision fraction,64.70588235294117,cardiomyopathy_overlap assertions occupy a structural-electrical hybrid diagnostic environment rather than a generic variant-label space. +clinical_inference_environment,CAB clinical inference overlay,conduction,9,intermittent/electrical phenotype,collision fraction,55.55555555555556,conduction assertions occupy a intermittent/electrical phenotype diagnostic environment rather than a generic variant-label space. +phenotype_first_electrical_risk_anchor,MUSIC SCD heart-failure cohort subject-info.csv,patient ECG/Holter phenotype,992,measured electrical-risk burden without variant data,electrical-risk proxy percent,53.93145161290322,Arrhythmia-related risk can be represented through measured ECG/Holter phenotypes independently of genotype assertions. +phenotype_first_high_risk_anchor,MUSIC SCD heart-failure cohort subject-info.csv,patient ECG/Holter phenotype,992,high electrical-risk burden without variant data,high electrical-risk proxy percent,34.778225806451616,"A substantial phenotype-first subset occupies a high-risk electrical state, forming the opposite pole from genotype-first SADS inference." diff --git a/reports/cab_inference_architecture_map_report.md b/reports/cab_inference_architecture_map_report.md new file mode 100644 index 0000000..7183080 --- /dev/null +++ b/reports/cab_inference_architecture_map_report.md @@ -0,0 +1,86 @@ +# CAB inference architecture map + +## Core architecture + +The integrated CAB map combines three non-equivalent evidence levels: + +1. Variant-assertion landscape: public P/LP assertions projected through allele anchoring, population context, and disease-model logic. +2. Clinical inference environments: disease labels mapped to phenotype-first, provocation-dependent, structural-electrical, intermittent, and genotype-first/postmortem contexts. +3. MUSIC electrical-risk anchor: a phenotype-first ECG/Holter risk environment without variant-level genetics. + +## Key results + +- Disease-model collision: 55.6% +- Unanchored assertion state: 37.1% +- Collision + unanchored: 92.8% +- Canonical monogenic: 5.0% +- Sensitivity minimum for collision + unanchored: 72.2% +- Sensitivity maximum for canonical monogenic: 25.6% +- MUSIC electrical-risk proxy positive: 53.9% +- MUSIC high electrical-risk proxy: 34.8% + +## Architecture table + +```text + architecture_layer data_source unit_of_analysis n_units dominant_signal key_metric key_value interpretation + variant_assertion_landscape ClinVar + gnomAD-derived CAB outputs public P/LP assertion 1731 disease-model collision plus unanchored assertion states collision + unanchored percent 92.778741 Public P/LP assertions mostly do not occupy clean canonical monogenic states after allele, population, and disease-model projection. + canonical_mendelian_minor_state ClinVar + gnomAD-derived CAB outputs public P/LP assertion 87 canonical monogenic minority canonical percent 5.025997 The classical clean Mendelian arrhythmia assertion state is present but small relative to collision and anchoring-fragile states. + clinical_inference_environment CAB clinical inference overlay LQTS 883 phenotype-first with genotype support collision fraction 18.459796 LQTS assertions occupy a phenotype-first with genotype support diagnostic environment rather than a generic variant-label space. + clinical_inference_environment CAB clinical inference overlay SADS 310 genotype-first/postmortem collision fraction 100.000000 SADS assertions occupy a genotype-first/postmortem diagnostic environment rather than a generic variant-label space. + clinical_inference_environment CAB clinical inference overlay CPVT 258 provocation-dependent collision fraction 100.000000 CPVT assertions occupy a provocation-dependent diagnostic environment rather than a generic variant-label space. + clinical_inference_environment CAB clinical inference overlay Brugada 181 context/provocation-dependent collision fraction 92.817680 Brugada assertions occupy a context/provocation-dependent diagnostic environment rather than a generic variant-label space. + clinical_inference_environment CAB clinical inference overlay arrhythmia 50 intermittent rhythm phenotype collision fraction 52.000000 arrhythmia assertions occupy a intermittent rhythm phenotype diagnostic environment rather than a generic variant-label space. + clinical_inference_environment CAB clinical inference overlay SQTS 23 phenotype-first with genotype support collision fraction 95.652174 SQTS assertions occupy a phenotype-first with genotype support diagnostic environment rather than a generic variant-label space. + clinical_inference_environment CAB clinical inference overlay cardiomyopathy_overlap 17 structural-electrical hybrid collision fraction 64.705882 cardiomyopathy_overlap assertions occupy a structural-electrical hybrid diagnostic environment rather than a generic variant-label space. + clinical_inference_environment CAB clinical inference overlay conduction 9 intermittent/electrical phenotype collision fraction 55.555556 conduction assertions occupy a intermittent/electrical phenotype diagnostic environment rather than a generic variant-label space. +phenotype_first_electrical_risk_anchor MUSIC SCD heart-failure cohort subject-info.csv patient ECG/Holter phenotype 992 measured electrical-risk burden without variant data electrical-risk proxy percent 53.931452 Arrhythmia-related risk can be represented through measured ECG/Holter phenotypes independently of genotype assertions. + phenotype_first_high_risk_anchor MUSIC SCD heart-failure cohort subject-info.csv patient ECG/Holter phenotype 992 high electrical-risk burden without variant data high electrical-risk proxy percent 34.778226 A substantial phenotype-first subset occupies a high-risk electrical state, forming the opposite pole from genotype-first SADS inference. +``` + +## Clinical inference environment summary + +```text +clinical_disease_group inference_mode primary_phenotype_tool n_assertions n_genes collision_fraction unanchored_fraction canonical_fraction ancestry_concentrated_fraction penetrance_boundary_fraction median_condition_entropy median_popmax_af median_phenotype_anchoring_score median_genotype_substitution_score + LQTS phenotype-first with genotype support ECG/QTc; Schwartz score components; exercise recovery QTc 883 11 0.184598 0.830125 0.127973 0.041903 0.053228 -0.0 0.0 0.90 0.25 + SADS genotype-first/postmortem Postmortem absence of explanatory phenotype; family cascade; molecular autopsy 310 7 1.000000 0.870968 0.000000 0.025806 0.032258 2.0 0.0 0.20 1.00 + CPVT provocation-dependent exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia 258 4 1.000000 0.670543 0.000000 0.073643 0.034884 1.0 0.0 0.65 0.40 + Brugada context/provocation-dependent Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring 181 6 0.928177 0.839779 0.022099 0.049724 0.066298 1.0 0.0 0.65 0.40 + arrhythmia intermittent rhythm phenotype ECG/Holter/patch monitoring; episode burden; clinical context 50 6 0.520000 0.700000 0.080000 0.120000 0.140000 -0.0 0.0 0.55 0.00 + SQTS phenotype-first with genotype support ECG QT shortening; clinical/family context 23 2 0.956522 0.739130 0.043478 0.086957 0.217391 -0.0 0.0 0.90 0.25 +cardiomyopathy_overlap structural-electrical hybrid Cardiac MRI/echo; ECG; ventricular arrhythmia burden; family/genetic criteria 17 5 0.647059 0.529412 0.058824 0.000000 0.117647 1.0 0.0 0.75 0.00 + conduction intermittent/electrical phenotype ECG conduction intervals; rhythm monitoring; family history 9 4 0.555556 0.888889 0.000000 0.000000 0.000000 -0.0 0.0 0.55 0.40 +``` + +## MUSIC electrical-risk summary + +```text + flag n_true n_total percent + music_qtc_prolonged_flag 373.000000 992 37.600806 + music_qtc_severe_flag 123.000000 992 12.399194 + music_qrs_wide_flag 454.000000 992 45.766129 + music_syncope_flag 148.000000 992 14.919355 + music_low_lvef_flag 547.000000 992 55.141129 + music_vt_flag 350.000000 992 35.282258 + music_nsvt_flag 277.000000 992 27.923387 + music_vpb_burden_high_flag 302.000000 992 30.443548 + music_hrv_low_flag 124.000000 992 12.500000 + music_electrical_risk_flag 535.000000 992 53.931452 + music_electrical_risk_high_flag 345.000000 992 34.778226 +music_electrical_risk_score_median 3.000000 992 NaN + music_electrical_risk_score_mean 3.628024 992 NaN +``` + +## MUSIC electrical-risk by cause-of-death code + +```text + cause_of_death n electrical_risk_mean electrical_risk_median electrical_risk_flag_fraction electrical_risk_high_fraction qtc_median qrs_median lvef_median vpb_24h_median nsvt_fraction vt_fraction syncope_fraction + 0 726 3.309229 2.5 0.494490 0.303030 438.0 113.0 35.0 195.0 0.241047 0.312672 0.143251 + 6 100 4.935000 5.0 0.710000 0.510000 457.0 133.0 30.0 800.0 0.440000 0.540000 0.180000 + 3 94 4.675532 4.5 0.659574 0.500000 445.5 126.0 30.0 1022.5 0.425532 0.468085 0.148936 + 1 61 3.778689 3.5 0.622951 0.377049 441.0 118.0 33.5 349.0 0.262295 0.377049 0.147541 + 7 11 3.000000 2.0 0.454545 0.363636 426.0 100.0 35.0 547.0 0.181818 0.181818 0.272727 +``` + +## Interpretation boundary + +The integrated map does not join unrelated patient cohorts and does not infer variant-level causality from MUSIC. It shows that inherited-arrhythmia interpretation is distributed across genotype-first, phenotype-first, population-anchored, and disease-model-collision regimes. diff --git a/reports/cab_inference_architecture_results_block.md b/reports/cab_inference_architecture_results_block.md new file mode 100644 index 0000000..34c0109 --- /dev/null +++ b/reports/cab_inference_architecture_results_block.md @@ -0,0 +1,7 @@ +# Manuscript results block: inference architecture map + +To integrate the variant-centered and phenotype-centered analyses, we constructed a CAB inference architecture map across three evidence levels. At the variant-assertion level, public inherited-arrhythmia P/LP assertions remained dominated by disease-model collision and unanchored assertion states, which together accounted for 92.8% of assertions, whereas canonical monogenic assertions represented only 5.0%. This architecture was robust across sensitivity analyses, with collision plus unanchored regimes remaining at least 72.2% across tested parameterizations. + +Mapping assertions onto clinical inference environments showed that arrhythmia disease labels do not share a single genotype-to-disease logic. LQTS occupied an ECG/QTc-anchored phenotype-first environment, whereas Brugada and CPVT occupied context- or provocation-dependent environments, cardiomyopathy-overlap assertions occupied a structural-electrical hybrid environment, and SADS occupied a genotype-first/postmortem environment. + +As an orthogonal phenotype-first anchor, MUSIC showed that electrical risk can also be represented without variant data. An ECG/Holter-derived electrical-risk proxy identified 53.9% of MUSIC patients as risk-positive and 34.8% as high-risk. Thus, CAB assertions occupy an intermediate interpretive space between genotype-first death inference and phenotype-first electrophysiological risk measurement. Together, these analyses support the central claim that public P/LP assertions behave as context-sensitive probes of inherited-arrhythmia disease architecture rather than static, portable disease labels.