ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.653A>G (p.Gln218Arg) (rs869320653)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital RCV000210845 SCV000267126 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2014-07-28 no assertion criteria provided research Mutation was checked in 100 normal control and was found pathogenic by polyphen2, panther, sift, mutation taster

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