Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000874308 | SCV001016466 | likely benign | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001273079 | SCV001455666 | uncertain significance | Leber congenital amaurosis | 2020-03-11 | no assertion criteria provided | clinical testing |