The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
Curation History
Variant: CA278647 43196
VCEP: Hearing Loss VCEP
Showing 1 to 2 of 2 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp) | Likely Pathogenic | Usher syndrome type 1B | 2022-08-03 | 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 | MYO7A |
| View | NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp) | Likely Pathogenic | Usher syndrome type 1B | 2022-08-03 | 1.0 | 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 |
Showing 1 to 2 of 2 rows