Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001706707 | SCV001934261 | likely pathogenic | Charcot-Marie-Tooth disease X-linked dominant 1 | 2022-11-22 | criteria provided, single submitter | clinical testing | _x000D_ Criteria applied: PM5_STR, PS4_MOD, PM2_SUP, PP3 |
Inherited Neuropathy Consortium | RCV000789217 | SCV000928569 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |