ClinVar Miner

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

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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 RCV000346955 SCV000333416 other not provided 2016-02-11 criteria provided, single submitter clinical testing
OMIM RCV000019428 SCV000039717 pathogenic Familial type 3 hyperlipoproteinemia 2005-10-01 no assertion criteria provided literature only
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.

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