ClinVar Miner

Submissions for variant NM_024006.6(VKORC1):c.174-136C>T (rs9934438)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV000211147 SCV000268422 drug response warfarin response - Dosage 2018-04-05 reviewed by expert panel curation PharmGKB Level of Evidence 1B: Annotation for a variant-drug combination where the preponderance of evidence shows an association. The association must be replicated in more than one cohort with significant p-values, and preferably will have a strong effect size.
PharmGKB RCV000211275 SCV000268423 drug response acenocoumarol response - Dosage 2015-10-14 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.
PharmGKB RCV000211320 SCV000268424 drug response phenprocoumon response - Dosage 2015-10-14 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.
Illumina Clinical Services Laboratory,Illumina RCV000291997 SCV000396620 benign Vitamin K-Dependent Clotting Factors 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000616307 SCV000730674 likely benign not specified 2018-03-09 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 RCV000054531 SCV000083009 drug response Warfarin response 2013-08-22 no assertion criteria provided literature only
Pharmacogenomics Lab,Chungbuk National University RCV000054531 SCV000889936 drug response Warfarin response 2010-08-31 no assertion criteria provided research

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