Submissions for variant NM_000243.3(MEFV):c.1503C>T (p.Arg501=)

gnomAD frequency: 0.00733  dbSNP: rs76464258

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251198	SCV000303119	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001689576	SCV000604168	benign	not provided	2023-10-26	criteria provided, single submitter	clinical testing
Invitae	RCV000030173	SCV000629024	benign	Familial Mediterranean fever	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000030173	SCV001276006	benign	Familial Mediterranean fever	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV001689576	SCV001910113	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32199921)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262581	SCV002543710	benign	Autoinflammatory syndrome	2022-03-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390122	SCV002702387	benign	Inborn genetic diseases	2016-12-07	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.
Genome-Nilou Lab	RCV000030173	SCV003802114	uncertain significance	Familial Mediterranean fever	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003125839	SCV003802115	likely benign	Familial Mediterranean fever, autosomal dominant	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003125840	SCV003802116	likely benign	Acute febrile neutrophilic dermatosis	2023-02-08	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030173	SCV000052833	benign	Familial Mediterranean fever	2011-05-23	no assertion criteria provided	clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	RCV000030173	SCV000115790	not provided	Familial Mediterranean fever		no assertion provided	not provided
Natera, Inc.	RCV000030173	SCV001452071	benign	Familial Mediterranean fever	2020-09-16	no assertion criteria provided	clinical testing