Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000504027 | SCV000597243 | likely pathogenic | Developmental and epileptic encephalopathy, 5 | 2015-11-18 | criteria provided, single submitter | clinical testing |