ClinVar Miner

Submissions for variant NM_000373.4(UMPS):c.638G>C (p.Gly213Ala) (rs1801019)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV000211228 SCV000268231 drug response capecitabine response - Toxicity/ADR 2016-07-11 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 RCV000211351 SCV000268232 drug response fluorouracil response - Toxicity/ADR 2016-07-11 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 RCV000211405 SCV000268233 drug response leucovorin response - Toxicity/ADR 2016-07-11 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 RCV000211224 SCV000268234 drug response tegafur response - Toxicity/ADR 2016-07-11 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.
PreventionGenetics,PreventionGenetics RCV000247148 SCV000303894 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306897 SCV000440393 benign Orotic aciduria 2016-06-14 criteria provided, single submitter clinical testing
Diasio Lab, Mayo Clinic RCV000086510 SCV000118714 not provided not provided no assertion provided not provided

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