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: CA179513 166435
VCEP: Hearing Loss VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_206933.2(USH2A):c.12505A>G (p.Thr4169Ala) | Likely Benign | Usher syndrome | 2019-10-18 | 2.0 | - | USH2A |
| View | NM_206933.2(USH2A):c.12505A>G (p.Thr4169Ala) | Likely Benign | Usher syndrome type 2 | 2019-07-17 | 1.0 | - | USH2A |
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