ClinVar Miner

Submissions for variant NM_000927.4(ABCB1):c.2677T>G (p.Ser893Ala) (rs2032582)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152717 SCV000202103 benign not specified 2014-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000835733 SCV000977540 benign not provided 2018-03-13 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 RCV000014698 SCV000034953 risk factor Inflammatory bowel disease 13 2003-12-01 no assertion criteria provided literature only
PharmGKB RCV000211425 SCV000268250 drug response simvastatin response - Efficacy 2016-07-11 reviewed by expert panel curation PharmGKB Level of Evidence 2A: Annotation for a variant-drug combination that qualifies for level 2B where the variant is within a VIP (Very Important Pharmacogene) as defined by PharmGKB. The variants in level 2A are in known pharmacogenes, so functional significance is more likely.
PharmGKB RCV000211207 SCV000268251 drug response ondansetron response - Efficacy 2015-09-14 reviewed by expert panel curation PharmGKB Level of Evidence 2A: Annotation for a variant-drug combination that qualifies for level 2B where the variant is within a VIP (Very Important Pharmacogene) as defined by PharmGKB. The variants in level 2A are in known pharmacogenes, so functional significance is more likely.

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