ClinVar Miner

Variants studied for Hereditary factor VIII deficiency disease

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
381 152 102 30 26 1 648

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
F8 364 142 100 29 26 1 618
F9 10 10 1 0 0 0 21
F8, F8A1, FUNDC2, H2AB1, LOC106146143, LOC106146150, LOC125467795, LOC126863349, LOC130068888, LOC130068889, LOC130068890, LOC130068891, LOC130068892, LOC130068893, LOC130068894, MIR1184-1, MPP1, SMIM9 1 0 0 0 0 0 1
F8, F8A1, H2AB1 1 0 0 0 0 0 1
F8, F8A1, H2AB1, LOC106146143, LOC106146150, LOC125467795, LOC126863349, LOC130068891, LOC130068892, MIR1184-1 1 0 0 0 0 0 1
F8, F8A1, LOC106146150 0 0 0 1 0 0 1
F8, FUNDC2, LOC130068894 1 0 0 0 0 0 1
F8, LOC106146143, LOC125467795, LOC130068891, LOC130068892 1 0 0 0 0 0 1
F8, LOC126863349, LOC130068891, LOC130068892 1 0 0 0 0 0 1
F8, LOC130068891, LOC130068892 1 0 0 0 0 0 1
VWF 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
OMIM 261 0 0 0 0 0 261
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 70 50 23 9 8 0 160
Illumina Laboratory Services, Illumina 1 1 32 17 15 0 66
Genetics and Molecular Pathology, SA Pathology 16 24 11 1 0 0 52
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 27 4 0 0 0 0 31
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 21 7 0 0 0 0 28
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen 23 0 0 0 5 0 28
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 5 16 0 0 0 26
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 7 15 3 0 0 0 25
NIHR Bioresource Rare Diseases, University of Cambridge 10 11 1 1 0 0 23
3billion 12 10 1 0 0 0 23
Mendelics 3 4 3 1 3 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 5 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 2 3 3 0 0 0 8
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 3 1 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 4 1 0 0 0 5
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 5 0 0 0 0 5
Baylor Genetics 2 0 2 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 1 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
GeneReviews 0 0 0 0 1 1 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Molecular Genetics and Enzymology, National Research Centre 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 2 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
Departamento de Patología, Instituto de Genética, Universidad Nacional de Colombia 0 2 0 0 0 0 2
Versiti Diagnostic Laboratories, Versiti, Inc 0 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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