Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001253422 | SCV001429125 | likely pathogenic | Severe myoclonic epilepsy in infancy | 2017-11-17 | criteria provided, single submitter | clinical testing |