Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001253745 | SCV001429605 | pathogenic | Pyruvate dehydrogenase E1-alpha deficiency | 2019-09-16 | criteria provided, single submitter | clinical testing | This variant was identified as de novo (maternity and paternity confirmed). |