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
55 20 149 82 73 1 383 623

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 15 16 61 17 39 0 383 490
von Willebrand disorder 10 4 71 50 0 0 0 135
not specified 3 0 23 23 62 0 0 108
von Willebrand disease, type 2a 10 0 0 0 0 0 0 10
von Willebrand disease type 1 7 0 0 0 0 0 0 7
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
von Willebrand disease type 2 4 0 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
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, recessive form 0 0 1 0 0 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: 23
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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
Illumina Clinical Services Laboratory,Illumina 4 3 70 50 0 0 0 127
Quest Diagnostics Nichols Institute San Juan Capistrano 13 9 51 25 23 0 0 120
PreventionGenetics 0 0 0 11 55 0 0 66
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 6 4 4 1 33 0 0 48
OMIM 38 0 0 0 1 1 0 40
GeneDx 3 4 13 3 0 0 0 23
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 1 0 1 0 0 4
Fulgent Genetics 1 0 3 0 0 0 0 4
Ambry Genetics 1 1 1 0 0 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
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 1 0 0 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 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
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 1 0 0 0 0 1

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