Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000880161 | SCV001023239 | likely benign | Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002292592 | SCV002585900 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | SYNJ1: BP4, BP7 |