Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics and Prenatal Diagnosis Center, |
RCV001257405 | SCV001433961 | likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2020-01-01 | no assertion criteria provided | clinical testing |