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
40 23 415 167 63 169 613

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Familial Mediterranean fever 27 12 338 116 38 169 505
not provided 20 13 93 39 5 0 152
not specified 3 2 60 50 34 0 131
none provided 8 0 16 8 22 0 54
Familial Mediterranean fever; Familial mediterranean fever, autosomal dominant 6 3 15 0 0 0 24
Familial mediterranean fever, autosomal dominant 9 1 5 0 4 0 17
Acute febrile neutrophilic dermatosis 4 0 1 0 0 0 5
Behcet disease 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
Central core myopathy 0 0 0 0 1 0 1
Heart, malformation of; Abnormality of cardiovascular system morphology; Renal insufficiency 0 1 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: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 10 1 178 113 21 0 323
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
Integrated Genetics/Laboratory Corporation of America 10 3 55 32 12 0 112
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 13 2 34 26 29 0 104
Mendelics 0 1 97 0 1 0 99
Natera, Inc. 7 0 49 13 16 0 85
CeGaT Praxis fuer Humangenetik Tuebingen 10 1 24 9 0 0 44
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 9 3 9 1 11 0 33
OMIM 19 0 3 0 0 0 22
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 10 8 0 0 0 0 18
GeneReviews 15 0 1 0 0 0 16
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 0 13 0 0 0 16
PreventionGenetics, PreventionGenetics 0 0 0 1 14 0 15
Department of Pathology and Laboratory Medicine,Sinai Health System 2 0 12 0 0 0 14
Medical Biology Lab, Gaziantep University 0 0 0 0 0 13 13
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 0 10 1 0 0 11
Counsyl 2 3 3 1 1 0 10
Fulgent Genetics,Fulgent Genetics 4 2 2 0 0 0 8
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 6 1 1 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 1 0 0 0 0 6
Myriad Women's Health, Inc. 4 1 0 0 0 0 5
Medical Genetics of Dicle University 0 0 0 0 0 4 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 2 0 0 0 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
Hadassah Hebrew University Medical Center 3 0 0 0 0 0 3
Department of Immunology,Hospital Universitario Virgen del Rocio 3 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 3 0 0 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 2
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
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 1 0 2
Nilou-Genome Lab 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Mayo Clinic 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 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 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
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1

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