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: CA016422 43085
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.5726G>C (p.Arg1909Pro) | Likely Pathogenic | dilated cardiomyopathy | 2021-10-13 | 1.2 | - | MYH7 |
| View | NM_000257.3(MYH7):c.5726G>C (p.Arg1909Pro) | Likely Pathogenic | dilated cardiomyopathy | 2021-10-13 | 1.1 | - | MYH7 |
| View | NM_000257.3(MYH7):c.5726G>C (p.Arg1909Pro) | Likely Pathogenic | dilated cardiomyopathy | 2021-08-25 | 1.0 | - | MYH7 |
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