ClinVar Miner

Submissions for variant NM_021642.4(FCGR2A):c.497A>G (p.His166Arg) (rs1801274)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV000211160 SCV000268239 drug response trastuzumab response - Efficacy 2014-11-25 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000454909 SCV000539158 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Variant reported as a risk factor for lupus nephritis, severe malaria, p. aeurginosa infection, and reduced risk for ulcerative colitis - questionable and unrelated to patient disease.
OMIM RCV000015946 SCV000036213 risk factor Lupus nephritis, susceptibility to 2010-07-01 no assertion criteria provided literature only
OMIM RCV000015947 SCV000036214 risk factor Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis 2010-07-01 no assertion criteria provided literature only
OMIM RCV000054529 SCV000083007 risk factor Malaria, severe, susceptibility to 2010-07-01 no assertion criteria provided literature only

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