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VA-Spec Documentation Updates#691

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bencap merged 3 commits into
release-2026.2.4from
docs/bencap/va-spec-type-identification
Jun 23, 2026
Merged

VA-Spec Documentation Updates#691
bencap merged 3 commits into
release-2026.2.4from
docs/bencap/va-spec-type-identification

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@bencap bencap commented Jun 16, 2026

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Documentation updates to support and clarify changes in VariantEffect/mavedb-api#728

bencap added 3 commits June 15, 2026 16:49
Both statement layers serialize with type "Statement"; document
distinguishing them via proposition.type and correct the pathogenicity
example to use the GA4GH schema values. Add a warning that the
pathogenicity classification reflects MaveDB functional evidence only,
not a complete clinical determination.
Add a heuristic table mapping a variant's state (mapped, scored,
calibrated) to the highest VA-Spec layer it qualifies for, consolidating
the per-variant availability rules previously only described in prose.

Also document that a score falling outside every calibration range is
annotated at the layer above as Indeterminate/Uncertain Significance with
a Neutral direction, rather than demoted to a lower layer.
Align classification, direction, strength, and evidenceOutcome code
values in the examples, prose, and tables with the lowercase form MaveDB
actually emits (e.g. `pathogenic`, `abnormal`, `supports`), and note the
convention so consumers do not match on the wrong casing. ACMG criterion
codes such as `PS3` and `BS3_supporting` keep their conventional casing.
@bencap bencap marked this pull request as ready for review June 16, 2026 22:43
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coverage: 2.596%. remained the same — docs/bencap/va-spec-type-identification into release-2026.2.4

@bencap bencap merged commit bfecbe4 into release-2026.2.4 Jun 23, 2026
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@bencap bencap deleted the docs/bencap/va-spec-type-identification branch June 23, 2026 16:53
@bencap bencap mentioned this pull request Jun 23, 2026
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2 participants