Submissions for variant NM_000243.3(MEFV):c.1261-28A>G

gnomAD frequency: 0.00015  dbSNP: rs104895140

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001711585	SCV001158607	benign	not provided	2020-02-06	criteria provided, single submitter	clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV001258254	SCV001435168	benign	Central core myopathy		criteria provided, single submitter	research	Ther heterozygous c.1261-28A>G variant in MEFV has been identified in an individual with familial Mediterranian fever (Lohse & Schneidenbach, personal communication to Infevers database, 2005) but has also been identified in >6% of South Asian chromosomes and 46 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for familial Mediterranean fever.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000083690	SCV001723142	benign	Familial Mediterranean fever	2023-09-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001711585	SCV001943838	benign	not provided	2018-06-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27535533)
Genome-Nilou Lab	RCV000083690	SCV003802166	uncertain significance	Familial Mediterranean fever	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003126423	SCV003802168	likely benign	Familial Mediterranean fever, autosomal dominant	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003126424	SCV003802169	likely benign	Acute febrile neutrophilic dermatosis	2023-02-08	criteria provided, single submitter	clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	RCV000083690	SCV000115778	not provided	Familial Mediterranean fever		no assertion provided	not provided