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: CA016328 14121
VCEP: Cardiomyopathy VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000257.4(MYH7):c.5647G>A (p.Glu1883Lys) | Uncertain Significance | hypertrophic cardiomyopathy | 2021-07-26 | 1.0 | - | MYH7 |
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