Submissions for variant NM_000243.3(MEFV):c.1245C>T (p.Val415=)

gnomAD frequency: 0.00017  dbSNP: rs104895195

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000590208	SCV000696043	likely benign	not specified	2020-11-24	criteria provided, single submitter	clinical testing
Invitae	RCV000083686	SCV001020138	likely benign	Familial Mediterranean fever	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000877404	SCV001150752	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	MEFV: BP4, BP7
Illumina Laboratory Services, Illumina	RCV000083686	SCV001277730	uncertain significance	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV000877404	SCV001939667	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262631	SCV002543695	uncertain significance	Autoinflammatory syndrome	2020-11-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390249	SCV002672652	likely benign	Inborn genetic diseases	2022-03-25	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	RCV000083686	SCV000115773	not provided	Familial Mediterranean fever		no assertion provided	not provided
Natera, Inc.	RCV000083686	SCV001462418	likely benign	Familial Mediterranean fever	2020-06-03	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000590208	SCV001927704	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000877404	SCV001973859	likely benign	not provided		no assertion criteria provided	clinical testing