Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Greenwood Genetic Center Diagnostic Laboratories, |
RCV003314075 | SCV004013171 | pathogenic | Kleefstra syndrome 2 | 2023-04-04 | criteria provided, single submitter | clinical testing | PVS1, PS2, PM2 |