Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187830 | SCV000241428 | benign | not specified | 2014-02-14 | criteria provided, single submitter | clinical testing | The variant is found in EPILEPSY panel(s). |
Invitae | RCV002054207 | SCV002438315 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2022-07-12 | criteria provided, single submitter | clinical testing |