Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Genomics, |
RCV000210840 | SCV000267131 | pathogenic | Methylmalonic aciduria, cblA type | 2015-05-18 | no assertion criteria provided | research | Mutation was checked in 100 normal control and was found pathogenic by polyphen2, panther, sift, mutation taster |