Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001437611 | SCV001640469 | likely benign | Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q | 2023-03-20 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001820131 | SCV002070129 | likely benign | not specified | 2020-02-14 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002258256 | SCV002537959 | uncertain significance | Xeroderma pigmentosum | 2021-08-25 | criteria provided, single submitter | curation |