Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Cavalleri Lab, |
RCV001031003 | SCV001160795 | pathogenic | Developmental and epileptic encephalopathy 94 | 2019-12-11 | criteria provided, single submitter | research | ACMG evidence PVS1, PS2, PM2 |