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: CA184505 179479
VCEP: Hearing Loss VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000260.3(MYO7A):c.3503G>A (p.Arg1168Gln) | Pathogenic | Usher syndrome | 2019-09-16 | 1.0 | - | MYO7A |
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