ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.2T>C (p.Met1Thr) (rs879253820)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University Children's Hospital, University of Zurich RCV000236350 SCV000262775 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714689 SCV000845411 pathogenic METHYLMALONIC ACIDURIA, mut(0) TYPE 2018-08-07 criteria provided, single submitter clinical testing

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