Submissions for variant NM_000243.3(MEFV):c.2118G>A (p.Pro706=)

gnomAD frequency: 0.00864  dbSNP: rs2234939

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	RCV000030181	SCV000052843	likely benign	Familial Mediterranean fever	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Likely benign.
PreventionGenetics, part of Exact Sciences	RCV000250856	SCV000303122	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000030181	SCV000629036	benign	Familial Mediterranean fever	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001705606	SCV000884104	benign	not provided	2023-11-06	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000030181	SCV001279829	uncertain significance	Familial Mediterranean fever	2018-02-13	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV001705606	SCV001891320	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	RCV001731318	SCV001984422	benign	Familial Mediterranean fever, autosomal dominant	2020-07-16	criteria provided, single submitter	clinical testing
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	RCV000250856	SCV002073831	benign	not specified		criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262587	SCV002543736	benign	Autoinflammatory syndrome	2022-02-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415434	SCV002726421	likely benign	Inborn genetic diseases	2015-01-28	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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 Diagnostics Laboratory, University Medical Center Utrecht	RCV000250856	SCV001932115	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000250856	SCV001969971	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000030181	SCV002093884	benign	Familial Mediterranean fever	2019-12-09	no assertion criteria provided	clinical testing
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	RCV000030181	SCV004015004	likely benign	Familial Mediterranean fever	2023-04-24	no assertion criteria provided	clinical testing