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: CA136998 45753
VCEP: Hearing Loss VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_016239.4(MYO15A):c.5929T>C (p.Cys1977Arg) | Benign | nonsyndromic genetic deafness | 2022-05-13 | 1.0 | - | MYO15A |
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