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: CA142888 48235
VCEP: Hearing Loss VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val) | Uncertain Significance | nonsyndromic genetic deafness | 2025-03-28 | 1.1 | ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for OTOF and MYO15A Version 1 | OTOF |
| View | NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val) | Uncertain Significance | nonsyndromic genetic deafness | 2022-05-13 | 1.0 | - | OTOF |
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