Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics, |
RCV001730026 | SCV001976776 | likely pathogenic | Stickler syndrome type 1 | 2021-08-10 | criteria provided, single submitter | clinical testing | PVS1, PM2, PP3 |