Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Bioinformatics, |
RCV000180946 | SCV000221928 | pathogenic | Severe myoclonic epilepsy in infancy | 2014-12-20 | criteria provided, single submitter | research | |
Invitae | RCV001219498 | SCV001391441 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2021-08-13 | criteria provided, single submitter | clinical testing |