ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.1025T>G (p.Met342Arg)

dbSNP: rs869320657
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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 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

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