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: CA253889 6611
VCEP: Hearing Loss VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_004086.2(COCH):c.151C>T (p.Pro51Ser) | Pathogenic | nonsyndromic genetic deafness | 2019-07-17 | 1.0 | - | COCH |
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