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: CA252233 2356
VCEP: Hearing Loss VCEP
Showing 1 to 1 of 1 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_206933.2(USH2A):c.2276G>T (p.Cys759Phe) | Pathogenic | Usher syndrome | 2019-08-16 | 1.0 | - | USH2A |
Showing 1 to 1 of 1 rows