ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1992G>A (p.Ala664=) (rs144146728)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078443 SCV000110296 benign not specified 2013-02-22 criteria provided, single submitter clinical testing
GeneReviews RCV000203396 SCV000258488 benign Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2016-01-07 no assertion criteria provided literature only
Invitae RCV000203396 SCV000641775 benign Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-07-10 criteria provided, single submitter clinical testing
PreventionGenetics RCV000078443 SCV000303175 benign not specified criteria provided, single submitter clinical testing

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