ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.129G>A (p.Trp43Ter)

dbSNP: rs879253825
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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 RCV000235849 SCV000262780 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency criteria provided, single submitter clinical testing
Counsyl RCV000235849 SCV000798411 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-03-09 criteria provided, single submitter clinical testing

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