Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001200043 | SCV001190593 | uncertain significance | Charcot-Marie-Tooth disease dominant intermediate D | 2020-03-27 | criteria provided, single submitter | clinical testing | ACMG-Criteria PM2, PM5, PP3. |