Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Greenwood Genetic Center Diagnostic Laboratories, |
RCV002291362 | SCV002583631 | pathogenic | Coffin-Siris syndrome 1 | 2022-08-17 | criteria provided, single submitter | clinical testing | PVS1, PM2, PM6 |