Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001706948 | SCV001934546 | likely pathogenic | Severe myoclonic epilepsy in infancy | 2020-09-23 | criteria provided, single submitter | clinical testing |