Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000234335 | SCV000288839 | benign | Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000120817 | SCV002065117 | likely benign | not specified | 2021-11-19 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002257431 | SCV002537946 | benign | Xeroderma pigmentosum | 2021-11-27 | criteria provided, single submitter | curation | |
KCCC/NGS Laboratory, |
RCV003315751 | SCV004017495 | likely benign | Xeroderma pigmentosum, group F | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003415912 | SCV004141165 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | ERCC4: BP4 |
ITMI | RCV000120817 | SCV000084982 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |