Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
University Children's Hospital, |
RCV000236100 | SCV000262792 | pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | criteria provided, single submitter | clinical testing | ||
Counsyl | RCV000236100 | SCV000791123 | pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2017-04-28 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000236100 | SCV000893723 | pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2018-10-31 | criteria provided, single submitter | clinical testing |