ClinVar Miner

Submissions for variant NM_000769.1(CYP2C19):c.-806C>T

gnomAD frequency: 0.20441  dbSNP: rs12248560
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Pharmacogenetics Implementation Consortium RCV000782438 SCV000920961 drug response CYP2C19: increased function practice guideline curation
Eurofins Ntd Llc (ga) RCV000326411 SCV000331711 other not provided 2015-07-09 criteria provided, single submitter clinical testing
GeneDx RCV000326411 SCV000976958 benign not provided 2018-03-14 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.
Faculty of Pharmacy, Damascus University RCV004813048 SCV005438653 drug response Clopidogrel response no assertion criteria provided research rs12248560 is a SNP in the CYP2C19 gene and is linked to increased clopidogrel metabolic activation. rs12248560 is associated with increased enzyme activity of CYP2C19 and higher concentration of clopidogrel active metabolite.

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