Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Greenwood Genetic Center Diagnostic Laboratories, |
RCV001814757 | SCV002061561 | likely pathogenic | Kleefstra syndrome 2 | 2021-09-23 | criteria provided, single submitter | clinical testing | PVS1, PM2 |