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: CA132738 43565
VCEP: Hearing Loss VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) | Pathogenic | Pendred syndrome | 2025-01-06 | 2.0 | ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDH23, COCH, GJB2, KCNQ4, MYO6, MYO7A, SLC26A4, TECTA and USH2A Version 2 | SLC26A4 |
| View | NM_000441.1(SLC26A4):c.706C>G (p.Leu236Val) | Likely Pathogenic | Pendred syndrome | 2020-09-24 | 1.1 | - | SLC26A4 |
| View | NM_000441.1(SLC26A4):c.706C>G (p.Leu236Val) | Likely Pathogenic | Pendred syndrome | 2019-07-17 | 1.0 | - | SLC26A4 |
Showing 1 to 3 of 3 rows