ClinVar Miner

Variants in gene VWF

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 not provided total
311 303 1109 330 170 448 2112

Condition and significance breakdown #

Total conditions: 56
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 97 107 536 184 147 383 1201
not specified 5 2 264 162 86 0 499
Inborn genetic diseases 4 2 273 29 0 0 308
von Willebrand disease type 1 61 44 104 4 63 0 264
von Willebrand disease type 3 100 49 48 2 61 0 253
Hereditary von Willebrand disease 52 64 86 30 16 19 234
von Willebrand disease type 2 52 53 75 2 62 0 224
VWF-related disorder 18 14 52 25 3 0 112
von Willebrand disorder 48 14 0 0 0 0 62
von Willebrand disease type 1; von Willebrand disease type 3; von Willebrand disease type 2 6 4 41 3 3 0 57
Von Willebrand disease type 2A 21 5 3 0 0 0 26
Von Willebrand disease type 2B 12 7 0 0 0 0 18
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 17 17
Abnormality of coagulation 2 8 6 0 0 0 16
von Willebrand disease type 2M 5 7 4 0 1 0 16
Thymoma 0 0 0 0 0 13 13
von Willebrand disease type 1; von Willebrand disease type 3 1 4 7 0 0 0 12
von Willebrand disease type 2N 8 3 1 0 0 0 11
Thrombocytopenia 3 1 6 0 0 0 10
Ovarian serous cystadenocarcinoma 0 0 0 0 0 9 9
Clear cell carcinoma of kidney 0 0 0 0 0 8 8
Lung cancer 0 0 0 0 0 8 8
Nonpapillary renal cell carcinoma 0 0 0 0 0 8 8
Uterine corpus endometrial carcinoma 0 0 0 0 0 8 8
Cervical cancer 0 0 0 0 0 7 7
Sarcoma 0 0 0 0 0 7 7
von Willebrand disease type 3; von Willebrand disease type 2 2 5 0 0 0 0 7
Abnormal bleeding; Thrombocytopenia 2 1 3 0 0 0 6
Gastric cancer 0 0 0 0 0 6 6
Papillary renal cell carcinoma type 1 0 0 0 0 0 5 5
Abnormal bleeding 1 1 2 0 0 0 4
Reduced von Willebrand factor activity; Reduced quantity of Von Willebrand factor 2 2 0 0 0 0 4
Acute myeloid leukemia 0 0 0 0 0 3 3
Malignant tumor of esophagus 0 0 0 0 0 3 3
Melanoma 0 0 0 0 0 3 3
Cholangiocarcinoma 0 0 0 0 0 2 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Hemorrhage 0 0 2 0 0 0 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Pancreatic adenocarcinoma 0 0 0 0 0 2 2
See cases 1 0 1 0 0 0 2
Abnormal bleeding; Prolonged bleeding time 1 0 0 0 0 0 1
Abnormality of blood and blood-forming tissues 1 0 0 0 0 0 1
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1
Familial cancer of breast 0 0 0 0 0 1 1
Hereditary factor VIII deficiency disease 0 0 1 0 0 0 1
Heterotopia, periventricular, X-linked dominant 1 0 0 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Reduced von Willebrand factor activity 0 1 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Thrombus 0 1 0 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Von Willebrand disease type 2A; von Willebrand disease type 1; von Willebrand disease type 2M 1 0 0 0 0 0 1
von Willebrand factor Vicenza 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 98
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Quest Diagnostics Nichols Institute San Juan Capistrano 49 34 283 62 41 0 469
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 69 20 230 136 4 0 459
Academic Unit of Haematology, University of Sheffield 0 0 0 0 0 382 382
Ambry Genetics 4 2 273 29 0 0 308
GeneDx 21 20 171 11 72 0 295
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 36 27 88 45 65 0 261
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 102 59 66 4 3 0 233
Mayo Clinic Laboratories, Mayo Clinic 30 24 84 43 39 0 220
PreventionGenetics, part of Exact Sciences 17 13 50 36 58 0 174
NIHR Bioresource Rare Diseases, University of Cambridge 24 64 46 0 0 0 131
Breakthrough Genomics, Breakthrough Genomics 0 0 15 52 54 0 121
ClinGen von Willebrand Disease Variant Curation Expert Panel, ClinGen 36 21 22 19 12 0 110
CeGaT Center for Human Genetics Tuebingen 6 7 20 50 15 0 98
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 19 27 50 2 0 0 96
Laboratory of Hematology, Radboud University Medical Center 53 20 19 2 1 0 95
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 68 68
Genome-Nilou Lab 0 0 0 0 60 0 60
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 9 9 39 1 0 0 57
Genetics and Molecular Pathology, SA Pathology 15 12 21 0 1 0 49
Department of Pathology and Laboratory Medicine, Sinai Health System 1 5 42 0 0 0 48
Illumina Laboratory Services, Illumina 6 3 25 9 4 0 47
OMIM 39 0 0 0 1 0 40
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 5 0 2 9 22 0 38
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 8 9 15 0 0 0 32
Fulgent Genetics, Fulgent Genetics 5 2 19 3 3 0 32
Genetic Services Laboratory, University of Chicago 1 0 14 13 3 0 31
Revvity Omics, Revvity 6 7 16 0 0 0 29
Eurofins Ntd Llc (ga) 2 0 15 1 5 0 23
GeneReviews 0 0 0 0 0 19 19
Genome Diagnostics Laboratory, University Medical Center Utrecht 3 0 0 2 12 0 17
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 5 0 2 8 1 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 3 4 0 0 0 15
Laboratory of Genetics, Children's Clinical University Hospital Latvia 8 2 1 2 1 0 14
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 1 0 0 10 0 13
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 8 1 0 2 0 13
Neuberg Centre For Genomic Medicine, NCGM 2 2 9 0 0 0 13
Mendelics 5 0 5 0 2 0 12
Baylor Genetics 2 3 6 0 0 0 11
Versiti Diagnostic Laboratories, Versiti, Inc 10 0 0 0 1 0 11
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 4 7 0 0 0 11
3billion 4 1 5 0 0 0 10
Department of Laboratory Medicine, Ruijin Hospital 9 0 0 0 1 0 10
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 6 0 2 0 0 0 8
First Genomix Gene Laboratory, Genetic Diagnostics Department 2 5 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 5 1 1 0 0 0 7
Birmingham Platelet Group; University of Birmingham 2 1 3 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 3 3 0 0 0 0 6
MVZ Martinsried, Medicover Genetics 0 1 5 0 0 0 6
Dasa 5 0 0 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 2 0 0 0 5
Institute of Immunology and Genetics Kaiserslautern 3 0 2 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 1 1 2 1 0 0 5
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 4 0 0 0 5
Variantyx, Inc. 2 3 0 0 0 0 5
Clinical Genetics Laboratory, Skane University Hospital Lund 0 3 1 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 1 1 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 1 0 0 0 3
Dubai Health Genomic Medicine Center, Dubai Health 1 2 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 1 0 0 0 3
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 1 2 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 2 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 1 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 1 0 0 0 2
Cancer Genetics Lab, Istanbul University Institute of Oncology 2 0 0 0 0 0 2
Centre of Medical Genetics, University Hospital Muenster 0 1 1 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 0 0 0 0 0 2
Laboratory of Genetic Engineering, National Medical Research Center for Hematology 0 1 0 1 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 1 0 1 0 0 0 2
New York Genome Center 1 1 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 1
Arcensus 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1
Department of Medical Genetics, Bayan National Lab for Medical Diagnostics 0 0 1 0 0 0 1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 1 0 0 0 0 0 1
Dr. Oladnabi Research Group, Golestan University of Medical Sciences 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 0 1 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1

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