Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV000625155 | SCV000743911 | likely benign | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2014-10-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001510487 | SCV001717531 | benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000625155 | SCV002808126 | likely benign | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2022-01-07 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV001700415 | SCV001924087 | benign | not specified | no assertion criteria provided | clinical testing | ||
Natera, |
RCV001834977 | SCV002077394 | likely benign | Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency | 2019-10-24 | no assertion criteria provided | clinical testing |