Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001456058 | SCV001659833 | likely benign | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2023-10-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002505487 | SCV002805876 | likely benign | Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 | 2021-08-30 | criteria provided, single submitter | clinical testing |