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: CA132675 43521
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.1708G>A (p.Val570Ile) | Likely Pathogenic | Pendred syndrome | 2023-01-23 | 1.1 | 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_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) | Likely Pathogenic | Pendred syndrome | 2019-10-29 | 1.0 | - | SLC26A4 |
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