ClinVar Miner

Variants in gene F8

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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 risk factor not provided total
433 222 216 70 43 1 1 883

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hereditary factor VIII deficiency disease 363 136 98 29 26 0 1 611
not provided 72 55 55 23 24 0 0 221
Hereditary factor IX deficiency disease 29 26 3 0 0 0 0 58
F8-related condition 6 11 18 13 0 0 0 48
Inborn genetic diseases 0 2 35 6 0 0 0 43
not specified 4 1 22 6 6 0 0 39
Thrombophilia, X-linked, due to factor 8 defect 32 1 2 0 0 0 0 35
Hereditary factor VIII deficiency disease; Thrombophilia, X-linked, due to factor 8 defect 6 2 4 1 1 0 0 14
Abnormality of coagulation 2 3 4 0 0 0 0 9
FACTOR VIII POLYMORPHISM 0 0 0 0 2 0 0 2
Abnormal bleeding 0 1 0 0 0 0 0 1
Abnormal bleeding; Thrombocytopenia 0 1 0 0 0 0 0 1
Bardet-Biedl syndrome 2 0 0 1 0 0 0 0 1
Cerebral palsy 0 0 0 0 0 1 0 1
FACTOR VIII (EAST HARTFORD) 1 0 0 0 0 0 0 1
FACTOR VIII (OKAYAMA) 1 0 0 0 0 0 0 1
Hemophilia A, FVIII Deficiency 0 0 1 0 0 0 0 1
Hemorrhage 0 0 0 1 0 0 0 1
Microcephaly 0 0 1 0 0 0 0 1
Mild hemophilia A 1 0 0 0 0 0 0 1
See cases 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 126 77 37 13 22 0 0 275
OMIM 259 0 0 0 2 0 0 261
NIHR Bioresource Rare Diseases, University of Cambridge 31 31 7 1 0 0 0 69
Illumina Laboratory Services, Illumina 1 1 33 17 15 0 0 67
PreventionGenetics, part of Exact Sciences 6 11 18 16 4 0 0 55
Mendelics 35 5 7 0 4 0 0 51
Genetics and Molecular Pathology, SA Pathology 16 24 10 1 0 0 0 51
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 18 6 19 3 0 0 0 46
Ambry Genetics 0 2 35 6 0 0 0 43
GeneDx 12 1 12 0 9 0 0 34
Mayo Clinic Laboratories, Mayo Clinic 6 17 9 0 0 0 0 32
CeGaT Center for Human Genetics Tuebingen 3 6 9 11 2 0 0 31
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 26 4 0 0 0 0 0 30
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen 23 0 0 0 5 0 0 28
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 7 15 3 1 0 0 0 26
3billion 12 10 1 0 0 0 0 23
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 3 14 0 0 0 0 21
Invitae 0 1 1 8 9 0 0 19
Fulgent Genetics, Fulgent Genetics 6 2 4 1 1 0 0 14
Genome Diagnostics Laboratory, University Medical Center Utrecht 9 0 2 0 2 0 0 13
Revvity Omics, Revvity 1 3 8 0 0 0 0 12
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 9 0 0 0 1 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 5 0 0 0 0 8
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 3 3 0 0 0 0 8
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 3 1 0 0 0 0 6
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 5 0 0 0 0 0 5
Baylor Genetics 2 0 2 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 1 0 1 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 2 0 0 0 0 4
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 2 0 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 0 3
GeneReviews 0 0 0 0 1 0 1 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 0 2
Molecular Genetics and Enzymology, National Research Centre 2 0 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 2 0 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 0 2
Departamento de Patología, Instituto de Genética, Universidad Nacional de Colombia 0 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 0 2
Versiti Diagnostic Laboratories, Versiti, Inc 0 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 1 0 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 1 0 0 0 0 0 1
Birmingham Platelet Group; University of Birmingham 0 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 1
Neurogenetics Research Program, University of Adelaide 0 0 0 0 0 1 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 1 0 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 1 0 0 0 0 0 0 1

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