ClinVar Miner

Variants in gene MEFV

Minimum submission review status: Collection method:
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
32 14 164 69 41 168 360

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Familial Mediterranean fever 22 10 76 33 26 168 272
not provided 18 5 91 16 10 0 128
not specified 1 0 31 25 33 0 83
Familial Mediterranean fever; Familial mediterranean fever, autosomal dominant 5 2 7 0 0 0 14
Familial mediterranean fever, autosomal dominant 4 1 1 0 0 0 6
Behcet's syndrome 3 0 0 0 0 0 3
Cryptorchidism; Global developmental delay; Seizures; Abnormality of the anterior fontanelle; Macrocephalus; Deep plantar creases; Abnormality of the cerebral white matter; Central hypotonia 1 0 1 0 0 0 2
Inborn genetic diseases 2 0 0 0 0 0 2
Brachydactyly; Autistic behavior; Stereotypy; Abnormal facial shape; Synophrys; Microcephaly; Impaired use of nonverbal behaviors; Generalized hypotonia; Profound global developmental delay 1 0 0 0 0 0 1
Syncope; Abnormality of the dentition; Intermittent diarrhea; Cachexia; Urticaria; Peripheral neuropathy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 150 150
GeneDx 14 2 59 16 11 0 102
Integrated Genetics/Laboratory Corporation of America 13 1 55 8 10 0 87
Invitae 5 4 32 13 18 0 72
Illumina Clinical Services Laboratory,Illumina 6 0 37 18 0 0 61
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 11 0 12 17 19 0 59
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 9 3 9 1 11 0 33
OMIM 17 0 3 0 0 0 20
GeneReviews 15 0 1 0 0 0 16
PreventionGenetics 0 0 0 1 14 0 15
Medical Biology Lab, Gaziantep University 0 0 0 0 0 13 13
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 10 2 0 0 12
Counsyl 4 3 1 1 1 0 10
Fulgent Genetics 4 2 2 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 0 5 0 0 0 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 3 0 1 3 0 0 7
Medical Genetics of Dicle University 0 0 0 0 0 4 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 1 0 0 0 3
Atomic Energy Commission of Syria (AECS) 0 0 0 3 0 0 3
Department of Immunology,Hospital Universitario Virgen del Rocio 3 0 0 0 0 0 3
Ambry Genetics 2 0 0 0 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 1 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Blueprint Genetics, 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Department of Medical Genetics, School of Medicine,Tehran University of Medical Sciences (TUMS) 0 0 1 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 0 1

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