Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001253593 | SCV001429391 | likely pathogenic | Developmental and epileptic encephalopathy, 2 | 2019-05-13 | criteria provided, single submitter | clinical testing |