ClinVar Miner

Variants studied for Familial Mediterranean fever

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
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 18 558 527 62 176 1066

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 9 453 417 50 117 840
LOC126862264, MEFV 10 9 105 110 12 59 226

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 10 1 360 482 39 0 892
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 16 6 0 0 22
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 9 0 0 0 11
Counsyl 2 3 3 1 1 0 10
3billion, Medical Genetics 6 0 2 0 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6 1 0 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 1 0 6 0 0 0 7
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 2 0 0 0 0 6
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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 1 0 0 0 0 3
Baylor Genetics 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 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
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 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
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 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
Institute of Human Genetics, University Hospital of Duesseldorf 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
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 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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