Showing 1 to 1 of 1 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_004004.6(GJB2):c.584T>C (p.Met195Thr) | Likely Pathogenic | nonsyndromic genetic deafness | 2024-07-02 | 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 | GJB2 |
Showing 1 to 1 of 1 rows