ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.605G>A (p.Arg202Gln) (rs224222)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000175564 SCV000170254 benign not specified 2011-12-09 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000175564 SCV000227073 benign not specified 2015-05-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000175564 SCV000303127 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030185 SCV000396776 benign Familial Mediterranean fever 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282851 SCV000604165 benign none provided 2020-09-01 criteria provided, single submitter clinical testing
Invitae RCV000030185 SCV001720801 benign Familial Mediterranean fever 2020-12-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030185 SCV000052851 benign Familial Mediterranean fever 2011-11-15 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001355268 SCV001550100 uncertain significance not provided no assertion criteria provided clinical testing Allele frequency is common in at least one population database (frequency: 41.265% in ExAC) based on the frequency threshold of 1.904% for this gene. Variant was observed in a homozygous state in population databases more than expected for disease.

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