Submissions for variant NM_000243.3(MEFV):c.306T>C (p.Asp102=)

gnomAD frequency: 0.48544  dbSNP: rs224225

Total submissions: 18

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, part of Exact Sciences	RCV000242621	SCV000303123	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000242621	SCV000331351	benign	not specified	2015-12-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, 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	RCV001355595	SCV000604164	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000030182	SCV001717597	benign	Familial Mediterranean fever	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533779	SCV001750598	benign	Familial Mediterranean fever, autosomal dominant	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000030182	SCV001750599	benign	Familial Mediterranean fever	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001355595	SCV001890283	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262588	SCV002543752	benign	Autoinflammatory syndrome	2016-12-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002444447	SCV002753038	benign	Inborn genetic diseases	2016-10-08	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	RCV000242621	SCV004102607	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 88% of patients studied by a panel of primary immunodeficiencies. Number of patients: 84. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001355595	SCV005293874	benign	not provided		criteria provided, single submitter	not provided
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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000242621	SCV001743944	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000242621	SCV001932466	benign	not specified		no assertion criteria provided	clinical testing
GenomeConnect, ClinGen	RCV001355595	SCV002074701	not provided	not provided		no assertion provided	phenotyping only	Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.