ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.306T>C (p.Asp102=) (rs224225)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030182 SCV000052846 benign Familial Mediterranean fever 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
PreventionGenetics,PreventionGenetics RCV000242621 SCV000303123 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000242621 SCV000331351 benign not specified 2015-12-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030182 SCV000396784 benign Familial Mediterranean fever 2018-01-12 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 RCV001283341 SCV000604164 benign none provided 2020-09-01 criteria provided, single submitter clinical testing
Invitae RCV000030182 SCV001717597 benign Familial Mediterranean fever 2020-12-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000030182 SCV001457159 benign Familial Mediterranean fever 2020-09-16 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001355595 SCV001550522 uncertain significance not provided no assertion criteria provided clinical testing Allele frequency is common in at least one population database (frequency: 61.662% 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. A synonymous variant not located in a splice region.

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