ClinVar Miner

Submissions for variant NM_000367.4(TPMT):c.719A>G (p.Tyr240Cys) (rs1142345)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000396233 SCV000331334 other not provided 2015-07-21 criteria provided, single submitter clinical testing
GeneDx RCV000396233 SCV000977588 likely benign not provided 2018-03-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
OMIM RCV000013562 SCV000033809 drug response Thiopurine methyltransferase deficiency 2006-02-01 no assertion criteria provided literature only

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