Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001069519 | SCV001234690 | likely benign | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2023-04-23 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001833663 | SCV002094229 | uncertain significance | Leber congenital amaurosis | 2021-02-19 | no assertion criteria provided | clinical testing |