Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001253641 | SCV001429474 | uncertain significance | Glycogen storage disease IXa1 | 2018-07-03 | criteria provided, single submitter | clinical testing | This variant was identified as hemizygous |