Submissions for variant NM_000243.3(MEFV):c.1428A>G (p.Gln476=)

gnomAD frequency: 0.58038  dbSNP: rs224207

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244842	SCV000303118	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000399975	SCV000396768	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	RCV001706293	SCV000604157	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000399975	SCV001725097	benign	Familial Mediterranean fever	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533717	SCV001750504	benign	Familial Mediterranean fever, autosomal dominant	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000399975	SCV001750505	benign	Familial Mediterranean fever	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001706293	SCV001840220	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002392758	SCV002701017	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	RCV000244842	SCV004102577	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.
Breakthrough Genomics, Breakthrough Genomics	RCV001706293	SCV005293864	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000399975	SCV001452074	benign	Familial Mediterranean fever	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000244842	SCV001743825	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000244842	SCV001926784	benign	not specified		no assertion criteria provided	clinical testing