Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics, |
RCV001730043 | SCV001976802 | pathogenic | Koolen-de Vries syndrome | 2021-10-05 | criteria provided, single submitter | clinical testing | PVS1, PM2, PP3 |