Showing 1 to 1 of 1 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_001110792.2(MECP2):c.334C>G (p.Leu112Val) | Pathogenic | Rett syndrome | 2022-06-28 | 1.0 | - | MECP2 |
Showing 1 to 1 of 1 rows