The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Curation History
Variant: CA012832 42922
VCEP: Cardiomyopathy VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000257.3(MYH7):c.2681A>G (p.Glu894Gly) | Pathogenic | hypertrophic cardiomyopathy | 2018-11-16 | 1.0 | - | MYH7 |
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