Showing 1 to 1 of 1 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_004004.5(GJB2):c.516G>C (p.Trp172Cys) | Pathogenic | nonsyndromic genetic deafness | 2019-10-17 | 1.0 | - | GJB2 |
Showing 1 to 1 of 1 rows