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: CA345132 48253
VCEP: Hearing Loss VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_194248.2(OTOF):c.5098G>C | Pathogenic | nonsyndromic genetic deafness | 2024-06-28 | 2.1 | ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for OTOF and MYO15A Version 1 | OTOF |
| View | NM_194248.2(OTOF):c.5098G>C | Pathogenic | nonsyndromic genetic deafness | 2024-06-28 | 2.0 | ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for OTOF and MYO15A Version 1 | N/A |
| View | NM_194248.2(OTOF):c.5098G>C | Uncertain Significance | nonsyndromic genetic deafness | 2022-05-13 | 1.0 | - | N/A |
Showing 1 to 3 of 3 rows