Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Neurology, |
RCV001843376 | SCV001842676 | likely pathogenic | Mitochondrial pyruvate carrier deficiency | 2021-09-02 | criteria provided, single submitter | clinical testing |