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: CA387460990 590799
VCEP: Hearing Loss VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_004004.5(GJB2):c.516G>C (p.Trp172Cys) | Pathogenic | nonsyndromic genetic deafness | 2019-10-17 | 1.0 | - | GJB2 |
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