Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics, |
RCV003314520 | SCV004013990 | likely pathogenic | Developmental and epileptic encephalopathy, 1 | 2022-12-16 | criteria provided, single submitter | clinical testing | PVS1, PM2 |