Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000861402 | SCV001001702 | likely benign | Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002258003 | SCV002537960 | likely benign | Xeroderma pigmentosum | 2021-08-19 | criteria provided, single submitter | curation | |
Ce |
RCV003413672 | SCV004141166 | likely benign | not provided | 2024-04-01 | criteria provided, single submitter | clinical testing | ERCC4: BP4, BP7 |