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: CA253893 6613
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.355G>A (p.Ala119Thr) | Uncertain Significance | nonsyndromic genetic deafness | 2023-02-06 | 1.2 | ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDH23, COCH, GJB2, KCNQ4, MYO6, MYO7A, SLC26A4, TECTA and USH2A Version 2 | COCH |
| View | NM_004086.2(COCH):c.355G>A (p.Ala119Thr) | Uncertain Significance | nonsyndromic genetic deafness | 2022-09-26 | 1.1 | ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDH23, COCH, GJB2, KCNQ4, MYO6, MYO7A, SLC26A4, TECTA and USH2A Version 2 | COCH |
| View | NM_004086.2(COCH):c.355G>A (p.Ala119Thr) | Uncertain Significance | nonsyndromic genetic deafness | 2019-07-17 | 1.0 | - | COCH |
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