ClinVar Miner

Submissions for variant NM_024006.6(VKORC1):c.106G>T (p.Asp36Tyr)

gnomAD frequency: 0.00150  dbSNP: rs61742245
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV003227596 SCV003925521 drug response warfarin response - Dosage 2021-11-18 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 RCV001115529 SCV001273511 likely benign Vitamin K-dependent clotting factors, combined deficiency of, type 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV001521062 SCV001730316 benign not provided 2023-08-19 criteria provided, single submitter clinical testing
Mendelics RCV002247238 SCV002516736 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002280858 SCV002569242 uncertain significance Thrombus criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001521062 SCV004139213 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing VKORC1: PM5, PP3, BS2
OMIM RCV000002296 SCV000022454 pathogenic Warfarin response 2008-02-01 no assertion criteria provided literature only

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