Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001253365 | SCV001429041 | likely pathogenic | Developmental and epileptic encephalopathy, 7 | 2018-11-26 | criteria provided, single submitter | clinical testing |