ClinVar Miner

Submissions for variant CYP2C19*3 (rs4986893)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Pharmacogenetics Implementation Consortium RCV000783656 SCV000922179 drug response CYP2C19: no function practice guideline curation
PharmGKB RCV000211151 SCV000268362 drug response clopidogrel response - Efficacy, Toxicity/ADR 2017-01-12 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 RCV000291495 SCV000331713 other not provided 2015-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000291495 SCV001904711 benign not provided 2018-08-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22865819, 20549256, 21855977, 22344438, 25087612, 25525159, 23874401, 7969038, 24906606)
OMIM RCV000018397 SCV000038679 drug response Mephenytoin, poor metabolism of 2009-06-01 no assertion criteria provided literature only
OMIM RCV000018398 SCV000038680 drug response Proguanil, poor metabolism of 2009-06-01 no assertion criteria provided literature only

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