Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UW Hindbrain Malformation Research Program, |
RCV000201605 | SCV000256395 | pathogenic | Joubert syndrome 5 | 2015-02-23 | criteria provided, single submitter | research | |
Blueprint Genetics | RCV001074504 | SCV001240091 | uncertain significance | Retinal dystrophy | 2017-11-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001471584 | SCV001675694 | likely benign | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2024-01-04 | criteria provided, single submitter | clinical testing |