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 total
337 95 97 35 35 570

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hereditary factor VIII deficiency disease 309 48 64 23 28 459
not provided 21 13 23 10 10 76
Hereditary factor IX deficiency disease 29 26 3 0 0 58
not specified 5 1 3 3 5 17
Abnormality of coagulation 2 3 4 0 0 9
FACTOR VIII POLYMORPHISM 0 0 0 0 2 2
Inborn genetic diseases 0 2 0 0 0 2
Abnormal bleeding 0 1 0 0 0 1
Abnormal bleeding; Thrombocytopenia 0 1 0 0 0 1
FACTOR VIII (EAST HARTFORD) 1 0 0 0 0 1
FACTOR VIII (OKAYAMA) 1 0 0 0 0 1
Hemophilia A, FVIII Deficiency 0 0 1 0 0 1
Microcephaly 0 0 1 0 0 1
Mild hemophilia A 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 260 0 0 0 2 262
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 67 40 20 4 21 152
NIHR Bioresource Rare Diseases, University of Cambridge 31 31 7 1 0 69
Illumina Clinical Services Laboratory,Illumina 1 1 33 17 15 67
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center,Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 26 4 0 0 0 30
CeGaT Praxis fuer Humangenetik Tuebingen 3 1 15 2 0 21
Center for Genomic Medicine,King Faisal Specialist Hospital and Research Center 4 3 13 0 0 20
Invitae 0 0 0 8 9 17
Mendelics 3 4 3 0 3 13
PreventionGenetics, PreventionGenetics 0 0 0 3 4 7
GeneDx 4 0 1 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 1 0 1 4
Ambry Genetics 0 2 0 0 0 2
GeneReviews 0 0 0 0 2 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 2
Molecular Genetics and Enzymology,National Research Centre 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Versiti Diagnostic Laboratories,Versiti, Inc 0 0 0 1 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 1
Birmingham Platelet Group; University of Birmingham 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 1

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