Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000590941 | SCV000700158 | likely pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 2017-01-30 | criteria provided, single submitter | clinical testing | |
Institute for Human Genetics, |
RCV000590941 | SCV002558883 | pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 2022-07-30 | criteria provided, single submitter | clinical testing |