Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666245 | SCV000790504 | likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2017-03-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001091102 | SCV001246957 | pathogenic | not provided | 2018-06-01 | criteria provided, single submitter | clinical testing |