Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000995586 | SCV001149851 | pathogenic | Congenital disorder of deglycosylation | 2018-05-22 | criteria provided, single submitter | clinical testing |