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: CA143472 48509
VCEP: Hearing Loss VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) | Benign | Usher syndrome | 2024-04-01 | 2.1 | 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 | USH2A |
| View | NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) | Benign | Usher syndrome | 2019-10-18 | 2.0 | - | USH2A |
| View | NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) | Benign | Usher syndrome type 2 | 2019-07-17 | 1.0 | - | USH2A |
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