Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000244528 | SCV000302760 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000862150 | SCV001002611 | benign | Dystonia 5; GTP cyclohydrolase I deficiency | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001668413 | SCV001883833 | likely benign | not provided | 2020-08-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001668413 | SCV004134144 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | GCH1: BP4, BP7 |