ClinVar Miner

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

gnomAD frequency: 0.31147  dbSNP: 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 2021-03-29 reviewed by expert panel curation PharmGKB Level of Evidence 1B: Level 1B clinical annotations describe variant-drug combinations with a high level of evidence supporting the association but no variant-specific prescribing guidance in an annotated clinical guideline or FDA drug label. Level 1B clinical annotations must be supported by at least two independent publications.
PharmGKB RCV000211275 SCV000268423 drug response acenocoumarol response - Dosage 2021-03-24 reviewed by expert panel curation PharmGKB Level of Evidence 2A: Variants in Level 2A clinical annotations are found in PharmGKB’s Tier 1 Very Important Pharmacogenes (VIPs). These variants are in known pharmacogenes, implying causation of drug phenotype is more likely. These clinical annotations describe variant-drug combinations with a moderate level of evidence supporting the association. For example, the association may be found in multiple cohorts, but there may be a minority of studies that do not support the majority assertion. Level 2A clinical annotations must be supported by at least two independent publications.
PharmGKB RCV001787818 SCV002031260 drug response phenprocoumon response - Dosage 2021-03-24 reviewed by expert panel curation PharmGKB Level of Evidence 2A: Variants in Level 2A clinical annotations are found in PharmGKB’s Tier 1 Very Important Pharmacogenes (VIPs). These variants are in known pharmacogenes, implying causation of drug phenotype is more likely. These clinical annotations describe variant-drug combinations with a moderate level of evidence supporting the association. For example, the association may be found in multiple cohorts, but there may be a minority of studies that do not support the majority assertion. Level 2A clinical annotations must be supported by at least two independent publications.
Illumina Laboratory Services, 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 pathogenic Warfarin response 2008-10-01 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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