Submissions for variant NM_000243.3(MEFV):c.1518C>T (p.Ile506=)

gnomAD frequency: 0.00015  dbSNP: rs104895099

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126736	SCV000170248	benign	not specified	2012-08-30	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000126736	SCV000696050	likely benign	not specified	2020-08-02	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001532317	SCV000884106	likely benign	not provided	2023-11-10	criteria provided, single submitter	clinical testing
Invitae	RCV000030174	SCV001091493	likely benign	Familial Mediterranean fever	2024-01-31	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	RCV000030174	SCV001571571	likely benign	Familial Mediterranean fever	2020-10-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001532317	SCV001747824	likely benign	not provided	2021-03-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262582	SCV002543412	uncertain significance	Autoinflammatory syndrome	2020-07-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390123	SCV002704801	likely benign	Inborn genetic diseases	2017-09-18	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.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	RCV000030174	SCV000115792	not provided	Familial Mediterranean fever		no assertion provided	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001532317	SCV001932264	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001532317	SCV001965262	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000030174	SCV002087398	likely benign	Familial Mediterranean fever	2020-02-17	no assertion criteria provided	clinical testing