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: CA278663 43230
VCEP: Hearing Loss VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) | Pathogenic | Usher syndrome | 2024-09-30 | 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 | MYO7A |
| View | NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) | Likely Pathogenic | Usher syndrome | 2020-11-02 | 1.0 | - | MYO7A |
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