ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.563T>G (p.Val188Gly) (rs869320654)

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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 RCV000210838 SCV000267128 pathogenic Vitamin B12-responsive methylmalonic acidemia type cblB 2014-05-18 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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