ClinVar Miner

Variants in gene MEFV

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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
38 20 306 123 58 168 485

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 27 14 242 68 37 168 383
not provided 19 7 84 39 6 0 143
not specified 9 2 45 44 38 0 120
Familial Mediterranean fever; Familial mediterranean fever, autosomal dominant 5 2 9 0 0 0 16
Familial mediterranean fever, autosomal dominant 6 1 1 0 0 0 7
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 (disease); Peripheral neuropathy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 11 5 78 72 21 0 187
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 150 150
Illumina Clinical Services Laboratory,Illumina 6 0 91 4 16 0 117
GeneDx 14 2 59 25 15 0 115
Mendelics 0 1 97 0 1 0 99
Integrated Genetics/Laboratory Corporation of America 12 1 42 25 10 0 87
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 13 2 24 21 26 0 86
CeGaT Praxis fuer Humangenetik Tuebingen 9 1 18 8 0 0 36
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,PreventionGenetics 0 0 0 1 14 0 15
Counsyl 6 4 3 1 1 0 15
Medical Biology Lab, Gaziantep University 0 0 0 0 0 13 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 0 7 0 0 0 10
Fulgent Genetics,Fulgent Genetics 4 2 2 0 0 0 8
Quest Diagnostics Nichols Institute San Juan Capistrano 4 1 2 0 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 3 0 1 3 0 0 7
Myriad Women's Health, Inc. 4 1 0 0 0 0 5
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 1 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 0 0 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
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
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1

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