Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001253126 | SCV001428670 | likely pathogenic | Severe myoclonic epilepsy in infancy | 2019-07-16 | criteria provided, single submitter | clinical testing | This variant was identified as de novo (maternity and paternity confirmed). |