Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000473210 | SCV000548327 | likely benign | Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496767 | SCV002792381 | uncertain significance | Xeroderma pigmentosum, group F; XFE progeroid syndrome; Fanconi anemia complementation group Q | 2022-01-24 | criteria provided, single submitter | clinical testing |