Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000944985 | SCV001090969 | likely benign | Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003432944 | SCV004153105 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | SYNJ1: BP4, BP7 |