Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001262564 | SCV001440485 | uncertain significance | Congenital disorder of deglycosylation | 2019-01-01 | criteria provided, single submitter | clinical testing | This variant was identified as compound heterozygous. |