Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000995614 | SCV001149891 | likely pathogenic | Phosphoribosylpyrophosphate synthetase superactivity | 2019-08-20 | criteria provided, single submitter | clinical testing |