Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000265090 | SCV000406598 | benign | Junctional epidermolysis bullosa with pyloric atresia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000283824 | SCV000483667 | benign | Deficiency of galactokinase | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001711937 | SCV001946504 | benign | not provided | 2018-07-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001711937 | SCV002486372 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing |