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
465 283 335 79 45 1 1 1057

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hereditary factor VIII deficiency disease 380 165 111 29 29 0 1 667
not provided 100 81 104 27 29 0 0 322
not specified 4 1 60 10 6 0 0 80
Inborn genetic diseases 1 2 57 14 0 0 0 74
F8-related disorder 13 14 29 14 0 0 0 70
Hereditary factor IX deficiency disease 29 26 3 0 0 0 0 58
Thrombophilia, X-linked, due to factor 8 defect 30 1 5 0 0 0 0 36
Hereditary factor VIII deficiency disease; Thrombophilia, X-linked, due to factor 8 defect 9 13 6 1 1 0 0 30
Abnormality of coagulation 2 3 4 0 0 0 0 9
FACTOR VIII POLYMORPHISM 0 0 0 0 2 0 0 2
Mild hemophilia A 2 0 0 0 0 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
F8-related disorders 1 0 0 0 0 0 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
Familial aortopathy 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
Interstitial lung disease due to ABCA3 deficiency 1 0 0 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 0 1
See cases 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 69
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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 139 82 47 13 22 0 0 303
OMIM 259 0 0 0 2 0 0 261
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 50 12 58 8 0 0 0 128
PreventionGenetics, part of Exact Sciences 13 14 29 17 4 0 0 77
Ambry Genetics 1 2 57 14 0 0 0 74
GeneDx 25 6 33 0 9 0 0 73
NIHR Bioresource Rare Diseases, University of Cambridge 31 31 7 1 0 0 0 69
Mayo Clinic Laboratories, Mayo Clinic 12 33 23 0 0 0 0 68
Illumina Laboratory Services, Illumina 1 1 32 17 15 0 0 66
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen 28 12 6 0 9 0 0 55
Mendelics 32 5 10 0 4 0 0 51
Genetics and Molecular Pathology, SA Pathology 16 24 10 1 0 0 0 51
CeGaT Center for Human Genetics Tuebingen 4 8 13 13 2 0 0 40
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 7 6 17 0 0 0 0 30
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 26 4 0 0 0 0 0 30
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 7 15 3 1 0 0 0 26
Fulgent Genetics, Fulgent Genetics 9 9 5 1 1 0 0 25
3billion 12 11 1 0 0 0 0 24
Labcorp Genetics (formerly Invitae), Labcorp 0 1 1 8 9 0 0 19
Breakthrough Genomics, Breakthrough Genomics 0 0 0 3 16 0 0 19
Neuberg Centre For Genomic Medicine, NCGM 2 8 7 0 0 0 0 17
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
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 4 5 2 0 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 5 1 0 0 0 10
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 9 0 0 0 1 0 0 10
Juno Genomics, Hangzhou Juno Genomics, Inc 2 4 3 0 0 0 0 9
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 4 1 0 1 0 0 6
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 6 0 0 0 0 0 6
Baylor Genetics 2 0 2 0 0 0 0 4
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 2 0 0 1 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 2 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 3 0 0 3
Versiti Diagnostic Laboratories, Versiti, Inc 1 0 0 1 0 0 0 2
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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 1 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
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
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 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
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
New York Genome Center 1 0 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 1 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 0 1
Pediatric Intensive Care Unit, Shengjing Hospital of China Medical University 1 0 0 0 0 0 0 1

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