Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pathology and Clinical Laboratory Medicine, |
RCV001261627 | SCV001438917 | pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | criteria provided, single submitter | clinical testing |