Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000578270 | SCV000680323 | likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency | 2017-12-07 | criteria provided, single submitter | clinical testing |