ClinVar Miner

Submissions for variant NM_000769.1(CYP2C19):c.681G>A (p.Pro227=) (rs4244285)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000352637 SCV000331333 other not provided 2018-08-07 criteria provided, single submitter clinical testing
GeneDx RCV000610614 SCV000721506 likely benign not specified 2018-03-09 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 RCV000018393 SCV000038675 drug response Mephenytoin, poor metabolism of 2009-06-01 no assertion criteria provided literature only
OMIM RCV000018394 SCV000038676 drug response Proguanil, poor metabolism of 2009-06-01 no assertion criteria provided literature only
OMIM RCV000018395 SCV000038677 drug response Clopidogrel response 2018-05-14 no assertion criteria provided literature only
PharmGKB RCV000211298 SCV000268332 drug response clopidogrel response - Efficacy, Toxicity/ADR 2018-04-06 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.
PharmGKB RCV000211423 SCV000268333 drug response clomipramine response - Efficacy 2016-07-11 reviewed by expert panel curation PharmGKB Level of Evidence 2A: Annotation for a variant-drug combination that qualifies for level 2B where the variant is within a VIP (Very Important Pharmacogene) as defined by PharmGKB. The variants in level 2A are in known pharmacogenes, so functional significance is more likely.
PharmGKB RCV000211209 SCV000268334 drug response amitriptyline response - Efficacy 2015-10-06 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.
PharmGKB RCV000211331 SCV000268335 drug response citalopram response - Efficacy 2016-07-11 reviewed by expert panel curation PharmGKB Level of Evidence 2A: Annotation for a variant-drug combination that qualifies for level 2B where the variant is within a VIP (Very Important Pharmacogene) as defined by PharmGKB. The variants in level 2A are in known pharmacogenes, so functional significance is more likely.

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