Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000625839 | SCV000746405 | likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2020-05-03 | criteria provided, single submitter | clinical testing |