Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000382668 | SCV000417701 | uncertain significance | Familial aplasia of the vermis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000288189 | SCV000417702 | uncertain significance | Jeune thoracic dystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002487464 | SCV002793816 | uncertain significance | Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 | 2022-04-05 | criteria provided, single submitter | clinical testing |