ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.52C>T (p.Gln18Ter) (rs121918248)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000203362 SCV000792798 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-07-14 criteria provided, single submitter clinical testing
GeneReviews RCV000203362 SCV000258490 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2016-12-01 no assertion criteria provided literature only mut(0) enzymatic subtype when homozygous
OMIM RCV000001954 SCV000022112 pathogenic METHYLMALONIC ACIDURIA, mut(0) TYPE 1987-03-01 no assertion criteria provided literature only

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