Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001253738 | SCV001429596 | likely pathogenic | Congenital disorder of glycosylation type 1t | 2019-02-16 | criteria provided, single submitter | clinical testing |