ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser) (rs775593146)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000378555 SCV000793376 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-08-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725410 SCV000336766 likely pathogenic not provided 2015-11-25 criteria provided, single submitter clinical testing

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