ClinVar Miner

Submissions for variant NM_000769.1(CYP2C19):c.1A>G (p.Met1Val)

gnomAD frequency: 0.00156  dbSNP: rs28399504
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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 RCV000782432 SCV000920955 drug response CYP2C19: no function practice guideline curation
Eurofins Ntd Llc (ga) 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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