Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000703313 | SCV000832210 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2021-08-28 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000986888 | SCV001136038 | pathogenic | Severe myoclonic epilepsy in infancy | 2019-05-28 | criteria provided, single submitter | clinical testing |