ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.654A>C (p.Gln218His) (rs1446389693)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666245 SCV000790504 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-03-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091102 SCV001246957 pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing

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