Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002064590 | SCV002415836 | likely benign | Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q | 2021-10-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002258014 | SCV002537948 | likely benign | Xeroderma pigmentosum | 2021-11-06 | criteria provided, single submitter | curation | |
Ce |
RCV003424400 | SCV004141173 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | ERCC4: BP4, BP7 |