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
27 13 283 68 37 169 415

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MEFV 27 13 283 68 37 169 415

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 9 2 132 60 20 0 223
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
Mendelics 0 1 97 0 1 0 99
Integrated Genetics/Laboratory Corporation of America 12 3 8 1 10 0 34
OMIM 15 0 3 0 0 0 18
GeneReviews 15 0 1 0 0 0 16
Medical Biology Lab, Gaziantep University 0 0 0 0 0 13 13
Counsyl 2 3 3 1 1 0 10
Myriad Women's Health, Inc. 4 1 0 0 0 0 5
Medical Genetics of Dicle University 0 0 0 0 0 4 4
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 0 3 0 0 0 3
Atomic Energy Commission of Syria (AECS) 0 0 0 3 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 1 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing 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 (TUMS) 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
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1

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