Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000995811 | SCV001150173 | pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2019-06-07 | criteria provided, single submitter | clinical testing |