ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter)

dbSNP: rs879253844
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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 RCV000236003 SCV000262806 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency criteria provided, single submitter clinical testing
Counsyl RCV000236003 SCV000790895 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-05-29 criteria provided, single submitter clinical testing

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