ClinVar Miner

Submissions for variant CYP2C9*5

gnomAD frequency: 0.00342  dbSNP: rs28371686
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000308849 SCV000338708 other not provided 2015-12-28 criteria provided, single submitter clinical testing
Medical Genetics Summaries RCV000787931 SCV000926950 drug response Flurbiprofen response 2019-02-11 criteria provided, single submitter curation The dose of flurbiprofen should be reduced in individuals with 2 decreased function alleles (CYP2C9 poor metabolizers) to avoid abnormally high plasma levels due to reduced metabolic clearance.
Medical Genetics Summaries RCV000788095 SCV000927093 drug response Lesinurad response 2019-02-11 criteria provided, single submitter curation Lesinurad should be used with caution in individuals with 2 decreased function alleles (CYP2C9 poor metabolizers) because of increased exposure and an increased risk of side effects.
Medical Genetics Summaries RCV000788101 SCV000927099 drug response Piroxicam response 2019-02-11 criteria provided, single submitter curation Individuals with 2 decreased function alleles (CYP2C9 poor metabolizers) have reduced clearance of piroxicam. Because the standard recommended dose of piroxicam may cause abnormally high plasma levels, a dose reduction should be considered for these individuals.
Invitae RCV000308849 SCV001724076 benign not provided 2020-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000308849 SCV002005482 likely benign not provided 2018-08-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 11455026, 25087612, 19204079, 23752738)

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