Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Precision Medicine Center, |
RCV001353102 | SCV001548238 | pathogenic | Waardenburg syndrome type 2A | criteria provided, single submitter | research | PVS1+PS2+PM2+PP3 |