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

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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 deafness2019-07-17
1.0
-COCH
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