ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.66A>G (p.Ile22Met) (rs1801394)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV000211244 SCV000268240 drug response methotrexate response - Toxicity/ADR 2018-01-30 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.
GeneDx RCV000126873 SCV000170402 benign not specified 2013-08-26 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.
PreventionGenetics,PreventionGenetics RCV000126873 SCV000308884 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264714 SCV000458420 benign Disorders of Intracellular Cobalamin Metabolism 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000007444 SCV000027644 risk factor Neural tube defects, folate-sensitive, susceptibility to 2005-07-01 no assertion criteria provided literature only
OMIM RCV000007445 SCV000027645 risk factor Down syndrome, susceptibility to 2005-07-01 no assertion criteria provided literature only
Department of Pharmacy and Biotechnology,University of Bologna RCV000144926 SCV000187683 uncertain significance Gastrointestinal stroma tumor no assertion criteria provided case-control

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