Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000415544 | SCV000493932 | pathogenic | Developmental and epileptic encephalopathy, 48 | 2020-11-19 | no assertion criteria provided | literature only | |
Equipe Genetique des Anomalies du Developpement, |
RCV000824906 | SCV000965831 | likely pathogenic | Epileptic encephalopathy | no assertion criteria provided | clinical testing |