ClinVar Miner

Submissions for variant NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys) (rs2231142)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioinformatics Institute,Agency for Science, Technology and Research RCV000851365 SCV000993670 drug response Gemcitabine response 2017-01-01 criteria provided, single submitter research
Database of Curated Mutations (DoCM) RCV000419593 SCV000505738 not provided Ovarian Neoplasms 2016-03-10 no assertion provided literature only
OMIM RCV000023341 SCV000044632 association Uric acid concentration, serum, quantitative trait locus 1 2009-11-04 no assertion criteria provided literature only
OMIM RCV000023342 SCV000044633 association Blood group, Junior system 2013-03-18 no assertion criteria provided literature only
PharmGKB RCV000211355 SCV000268258 drug response rosuvastatin response - Efficacy 2017-04-07 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.
PharmGKB RCV000660795 SCV000783034 drug response allopurinol response - Dosage, Efficacy 2018-02-01 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.

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