ClinVar Miner

Variants studied for Familial Mediterranean fever

Coded as:
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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
23 16 547 496 61 176 1022

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MEFV 13 7 445 394 49 117 807
LOC126862264, MEFV 10 9 102 102 12 59 215

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 10 1 349 451 38 0 849
Genome-Nilou Lab 3 4 152 34 28 0 221
Natera, Inc. 9 1 144 35 17 0 206
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 150 150
Illumina Laboratory Services, Illumina 6 0 94 4 16 0 120
Mendelics 4 1 91 0 2 0 98
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 4 2 1 10 0 26
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 15 5 0 0 20
OMIM 15 0 3 0 0 0 18
GeneReviews 0 0 0 0 0 16 16
Medical Biology Lab, Gaziantep University 0 0 0 0 0 13 13
MGZ Medical Genetics Center 4 2 6 0 0 0 12
Counsyl 2 3 3 1 1 0 10
3billion 6 0 2 0 0 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 6 0 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6 1 0 0 0 0 7
Myriad Genetics, Inc. 4 1 0 0 0 0 5
Medical Genetics of Dicle University 0 0 0 0 0 4 4
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 3 0 0 0 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
Genetics and Molecular Pathology, SA Pathology 1 0 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Baylor Genetics 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 0 1 0 0 0 2
Genomics And Bioinformatics Analysis Resource, Columbia University 2 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 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 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 1 0 0 0 0 0 1
Arcensus 1 0 0 0 0 0 1

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