ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.942C>T (p.Arg314=) (rs224213)

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Total submissions: 12
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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 RCV000030188 SCV000052854 benign Familial Mediterranean fever 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
PreventionGenetics,PreventionGenetics RCV000243663 SCV000303129 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030188 SCV000396774 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 RCV001282849 SCV000604159 benign none provided 2020-09-01 criteria provided, single submitter clinical testing
Invitae RCV000030188 SCV001725098 benign Familial Mediterranean fever 2020-12-08 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001533775 SCV001750590 benign Familial mediterranean fever, autosomal dominant 2021-07-01 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000030188 SCV001750591 benign Familial Mediterranean fever 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001356539 SCV001846095 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV000030188 SCV001452083 benign Familial Mediterranean fever 2020-09-16 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001356539 SCV001551739 uncertain significance not provided no assertion criteria provided clinical testing Allele frequency is common in at least one population database (frequency: 75.895% 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000243663 SCV001739607 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000243663 SCV001928165 benign not specified no assertion criteria provided clinical testing

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