Submissions for variant NM_000243.3(MEFV):c.1422G>A (p.Glu474=)

gnomAD frequency: 0.57768  dbSNP: rs224208

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030172	SCV000052832	benign	Familial Mediterranean fever	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Benign.
PreventionGenetics, part of Exact Sciences	RCV000253062	SCV000303117	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000030172	SCV000396769	benign	Familial Mediterranean fever	2018-01-13	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	RCV001705604	SCV000604158	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV000030172	SCV001717594	benign	Familial Mediterranean fever	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533718	SCV001750506	benign	Familial Mediterranean fever, autosomal dominant	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000030172	SCV001750507	benign	Familial Mediterranean fever	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001705604	SCV001863538	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262580	SCV002543704	benign	Autoinflammatory syndrome	2016-12-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390121	SCV002699793	benign	Inborn genetic diseases	2016-07-12	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000253062	SCV004102588	benign	not specified	2023-11-12	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 89% of patients studied by a panel of primary immunodeficiencies. Number of patients: 85. Only high quality variants are reported.
Natera, Inc.	RCV000030172	SCV001452075	benign	Familial Mediterranean fever	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000253062	SCV001741874	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000253062	SCV001931185	benign	not specified		no assertion criteria provided	clinical testing