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

gnomAD frequency: 0.31147  dbSNP: rs9934438

Total submissions: 8

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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV005089325	SCV005836519	benign	not provided	2024-03-25	criteria provided, single submitter	clinical testing
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