Total submissions: 4
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 |
RCV000326411 | SCV000331711 | other | not provided | 2015-07-09 | criteria provided, single submitter | clinical testing | |
Gene |
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, |
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. |