Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001843868 | SCV002103059 | likely pathogenic | Wiedemann-Steiner syndrome | 2021-03-23 | criteria provided, single submitter | clinical testing | PVS1, PM2 |