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: CA143409 48468
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.15562A>G (p.Ser5188Gly) | Benign | Usher syndrome | 2019-07-17 | 1.0 | - | USH2A |
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