Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000824907 | SCV000965832 | likely pathogenic | Epileptic encephalopathy | 2014-01-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000415589 | SCV000493933 | pathogenic | Developmental and epileptic encephalopathy, 48 | 2020-11-10 | no assertion criteria provided | literature only |