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: CA16044155 226441
VCEP: Hearing Loss VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp) | Uncertain Significance | Usher syndrome | 2024-04-01 | 1.2 | 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_206933.4(USH2A):c.9921T>G (p.Cys3307Trp) | Uncertain Significance | Usher syndrome | 2024-03-28 | 1.1 | - | USH2A |
View | NM_206933.3(USH2A):c.9921T>G (p.Cys3307Trp) | Uncertain Significance | Usher syndrome | 2019-10-23 | 1.0 | - | USH2A |
Showing 1 to 3 of 3 rows