Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Unidad de Genómica Garrahan, |
RCV001731221 | SCV001981631 | pathogenic | Severe myoclonic epilepsy in infancy | 2021-10-07 | no assertion criteria provided | clinical testing |