ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1677_1747dup (p.Val583Aspfs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University Children's Hospital, University of Zurich RCV000235291 SCV000262808 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency criteria provided, single submitter clinical testing

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