Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Precision Medicine Center, |
RCV004577612 | SCV004218478 | pathogenic | Nephronophthisis 12 | 2023-12-01 | criteria provided, single submitter | clinical testing | PVS1, PM2_p,PM3 |