ClinVar Miner

Submissions for variant CYP2C19*4A (rs28399504)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Pharmacogenetics Implementation Consortium RCV000782432 SCV000920955 drug response CYP2C19: no function practice guideline curation
PharmGKB RCV000211166 SCV000268285 drug response clopidogrel response - Efficacy 2015-10-28 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000383294 SCV000331712 other not provided 2015-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000383294 SCV000971805 likely benign not provided 2018-03-26 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 RCV000018399 SCV000038681 drug response Mephenytoin, poor metabolism of 1998-01-01 no assertion criteria provided literature only

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