ClinVar Miner

Variants in gene F9

Minimum submission review status: Collection method:
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Gene type:
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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 association protective not provided total
221 108 114 210 47 1 1 3 624

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association protective not provided total
Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 81 24 31 176 39 1 0 0 352
Hereditary factor IX deficiency disease 121 49 31 31 20 0 0 3 233
not specified 36 9 31 4 6 0 0 0 86
not provided 27 19 14 9 8 0 0 0 74
F9-related disorder 10 4 5 11 1 0 0 0 31
Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect; Warfarin sensitivity, X-linked 9 5 2 5 1 0 0 0 22
Hereditary factor VIII deficiency disease 10 10 1 0 0 0 0 0 21
Thrombophilia, X-linked, due to factor 9 defect 5 1 2 0 1 0 0 0 9
Inborn genetic diseases 0 1 5 1 0 0 0 0 7
Hemophilia B leyden 6 0 0 0 0 0 0 0 6
Hemophilia B, Factor IX Deficiency 0 0 2 3 0 0 0 0 5
Abnormality of coagulation 1 2 1 0 0 0 0 0 4
F9 POLYMORPHISM 0 0 0 0 2 0 0 0 2
Hemophilia b(m) 2 0 0 0 0 0 0 0 2
Warfarin sensitivity, X-linked 2 0 0 0 0 0 0 0 2
Deep venous thrombosis, protection against 0 0 0 0 0 0 1 0 1
FACTOR IX POLYMORPHISM 0 0 0 0 1 0 0 0 1
FACTOR IX, DNA POLYMORPHISM 0 0 0 0 1 0 0 0 1
HEMOPHILIA B BRANDENBURG 1 0 0 0 0 0 0 0 1
Reduced factor IX activity 1 0 0 0 0 0 0 0 1
Thrombus 0 0 1 0 0 0 0 0 1
haemophilia B 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association protective not provided total
Labcorp Genetics (formerly Invitae), Labcorp 81 24 31 176 39 1 0 0 352
OMIM 103 0 0 0 4 0 1 0 108
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 51 16 8 2 4 0 0 0 81
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 22 11 28 3 0 0 0 0 64
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen 18 12 5 0 10 0 0 0 45
Natera, Inc. 3 0 5 25 7 0 0 0 40
PreventionGenetics, part of Exact Sciences 10 4 5 12 3 0 0 0 34
Illumina Laboratory Services, Illumina 0 0 15 11 8 0 0 0 34
NIHR Bioresource Rare Diseases, University of Cambridge 13 13 2 0 0 0 0 0 26
Fulgent Genetics, Fulgent Genetics 8 5 2 5 1 0 0 0 21
GeneDx 8 5 5 0 0 0 0 0 18
Mayo Clinic Laboratories, Mayo Clinic 7 9 1 0 0 0 0 0 17
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 13 3 0 0 0 0 0 0 16
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 2 6 4 0 0 0 0 0 12
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 7 0 0 0 9
CeGaT Center for Human Genetics Tuebingen 0 0 1 6 1 0 0 0 8
Ambry Genetics 0 1 5 1 0 0 0 0 7
Mendelics 4 1 1 0 1 0 0 0 7
Genetics and Molecular Pathology, SA Pathology 2 4 0 0 0 0 0 0 6
3billion 4 2 0 0 0 0 0 0 6
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 3 0 0 0 0 0 0 5
Revvity Omics, Revvity 2 0 1 0 0 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 1 0 0 0 0 0 3
Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 0 3 0 0 0 0 0 0 3
Genome-Nilou Lab 0 1 0 1 1 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1 0 0 0 0 0 2
Eurofins Ntd Llc (ga) 0 0 0 0 2 0 0 0 2
GeneReviews 0 0 0 0 0 0 0 2 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 2 0 0 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 2 0 0 0 0 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 0 0 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 0 0 1
SNPedia 0 0 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 1 0 0 0 0 0 0 1
DiNA Science 0 1 0 0 0 0 0 0 1

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