ClinVar Miner

Variants in gene VWF

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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 risk factor not provided total
66 90 248 101 77 1 383 769

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 15 18 127 41 29 0 383 557
von Willebrand disorder 26 43 103 50 0 0 0 220
not specified 5 4 28 25 67 0 0 123
Abnormality of coagulation 2 8 6 0 0 0 0 16
von Willebrand disease type 2 7 5 3 0 0 0 0 15
Von Willebrand disease, recessive form 1 8 5 0 0 0 0 14
von Willebrand disease type 1 7 6 1 0 0 0 0 14
von Willebrand disease, type 2a 10 0 0 0 0 0 0 10
von Willebrand disease type 2N 7 0 0 0 0 0 0 7
von Willebrand disease, type 2b 7 0 0 0 0 0 0 7
Von Willebrand disease, recessive form; von Willebrand disease type 1; von Willebrand disease type 2 1 0 5 0 0 0 0 6
von Willebrand disease type 3 6 0 0 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
Inborn genetic diseases 1 1 1 0 0 0 0 3
von Willebrand disease type 2M 2 0 0 0 0 0 0 2
Abnormal bleeding; Prolonged bleeding time 1 0 0 0 0 0 0 1
Hematuria; Spontaneous, recurrent epistaxis; Hemorrhage of the eye 0 1 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 factor Vicenza 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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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 14 10 86 30 25 0 0 164
NIHR Bioresource Rare Diseases, University of Cambridge 24 64 46 0 0 0 0 131
Illumina Clinical Services Laboratory,Illumina 4 3 70 50 0 0 0 127
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 7 8 10 4 37 0 0 66
PreventionGenetics,PreventionGenetics 0 0 0 11 55 0 0 66
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 34 19 0 0 0 55
OMIM 38 0 0 0 1 1 0 40
GeneDx 3 4 13 3 1 0 0 24
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 15 1 5 0 0 23
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 1 1 2 0 1 0 0 5
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
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
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 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 Genetic Testing 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 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
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 0 1
Laboratory of Genetic Engineering, National Research Center for Hematology 0 1 0 0 0 0 0 1

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