ClinVar Miner

Variants in gene VWF

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 risk factor not provided total
154 130 358 110 84 1 383 960

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 24 21 167 50 28 0 383 605
von Willebrand disorder 28 44 110 50 4 0 0 233
Von Willebrand disease, recessive form 81 45 39 2 1 0 0 166
not specified 5 3 28 24 67 0 0 122
von Willebrand disease type 1 12 11 36 1 0 0 0 60
none provided 3 2 5 3 33 0 0 46
von Willebrand disease type 2 8 6 5 0 0 0 0 19
Abnormality of coagulation 2 8 6 0 0 0 0 16
von Willebrand disease, type 2a 11 0 0 0 0 0 0 11
von Willebrand disease type 2N 7 0 0 0 0 0 0 7
von Willebrand disease type 3 6 0 1 0 0 0 0 7
von Willebrand disease, type 2b 7 0 0 0 0 0 0 7
Abnormal bleeding; Thrombocytopenia 2 1 3 0 0 0 0 6
Von Willebrand disease, recessive form; von Willebrand disease type 1; von Willebrand disease type 2 1 0 5 0 0 0 0 6
Abnormal bleeding 1 1 2 0 0 0 0 4
Reduced von Willebrand factor activity; Reduced quantity of Von Willebrand factor 2 2 0 0 0 0 0 4
von Willebrand disease type 2M 3 0 0 0 1 0 0 4
Inborn genetic diseases 1 1 1 0 0 0 0 3
Abnormal bleeding; Prolonged bleeding time 1 0 0 0 0 0 0 1
Reduced von Willebrand factor activity 0 1 0 0 0 0 0 1
See cases 1 0 0 0 0 0 0 1
VON WILLEBRAND FACTOR POLYMORPHISM 0 0 0 0 1 0 0 1
von Willebrand disease, type 1, susceptibility to 0 0 0 0 0 1 0 1
von Willebrand disease, type 2a; von Willebrand disease type 1; von Willebrand disease type 2M 1 0 0 0 0 0 0 1
von Willebrand factor Vicenza 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Academic Unit of Haematology, University of Sheffield 0 0 0 0 0 0 382 382
Quest Diagnostics Nichols Institute San Juan Capistrano 17 12 109 35 30 0 0 202
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center,Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 79 38 34 2 1 0 0 154
Illumina Clinical Services Laboratory,Illumina 4 3 78 50 4 0 0 139
NIHR Bioresource Rare Diseases, University of Cambridge 24 64 46 0 0 0 0 131
CeGaT Praxis fuer Humangenetik Tuebingen 8 3 46 26 0 0 0 83
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 10 8 15 6 41 0 0 80
PreventionGenetics, PreventionGenetics 0 0 0 11 55 0 0 66
OMIM 38 0 0 0 1 1 0 40
Center for Genomic Medicine,King Faisal Specialist Hospital and Research Center 5 4 28 0 0 0 0 37
GeneDx 3 4 13 3 1 0 0 24
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 15 1 5 0 0 23
Department of Pathology and Laboratory Medicine,Sinai Health System 1 1 13 0 0 0 0 15
Versiti Diagnostic Laboratories,Versiti, Inc 8 0 0 0 1 0 0 9
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 6 0 2 0 0 0 0 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 2 2 0 2 0 0 8
Baylor Genetics 1 0 5 0 0 0 0 6
Birmingham Platelet Group; University of Birmingham 2 1 3 0 0 0 0 6
Fulgent Genetics,Fulgent Genetics 1 0 3 0 0 0 0 4
Ambry Genetics 1 1 1 0 0 0 0 3
Invitae 0 0 0 1 2 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 1 1 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 1 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 1 1 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 0 2
Laboratory of Genetic Engineering, National Research Center for Hematology 0 1 0 1 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 1 0 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 1 0 0 0 0 0 0 1
Mendelics 0 0 1 0 0 0 0 1
Lineagen, Inc 0 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 1 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 0 1

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