The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
Curation History
Variant: CA013815 42965
VCEP: Cardiomyopathy VCEP
Showing 1 to 3 of 3 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) | Likely Pathogenic | hypertrophic cardiomyopathy | 2021-12-22 | 2.0 | - | MYH7 |
| View | NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) | Uncertain Significance | hypertrophic cardiomyopathy | 2021-12-17 | 1.1 | - | MYH7 |
| View | NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) | Uncertain Significance | hypertrophic cardiomyopathy | 2021-12-09 | 1.0 | - | MYH7 |
Showing 1 to 3 of 3 rows