ClinVar Miner

Submissions for variant NM_000041.2(APOE):c.526C>T (p.Arg176Cys) (rs7412)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV000211178 SCV000268391 drug response atorvastatin response - Efficacy 2016-02-26 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000346955 SCV000333416 other not provided 2016-02-11 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000346955 SCV000987597 risk factor not provided criteria provided, single submitter clinical testing
OMIM RCV000019428 SCV000039717 pathogenic Familial type 3 hyperlipoproteinemia 2005-10-01 no assertion criteria provided literature only
Pharmacogenomics Lab,Chungbuk National University RCV000845582 SCV000889947 drug response Warfarin response 2010-08-31 no assertion criteria provided research

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