ClinVar Miner

Submissions for variant NM_001136018.3(EPHX1):c.416A>G (p.His139Arg) (rs2234922)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV000211258 SCV000268260 drug response carbamazepine response - Dosage 2016-01-20 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.
OMIM RCV000018079 SCV000038358 benign EPOXIDE HYDROLASE 1 POLYMORPHISM 2002-09-01 no assertion criteria provided literature only

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