ClinVar Miner

Variants studied for von Willebrand disease 2

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
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 total
73 61 98 5 62 276

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
VWF 73 61 98 5 62 276

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 23 21 32 2 2 80
Genome-Nilou Lab 0 0 0 0 60 60
Laboratory of Hematology, Radboud University Medical Center 22 12 7 0 0 41
ClinGen von Willebrand Disease Variant Curation Expert Panel, ClinGen 23 10 6 0 0 39
Genetics and Molecular Pathology, SA Pathology 11 10 12 0 0 33
Fulgent Genetics, Fulgent Genetics 5 2 19 3 3 32
OMIM 29 0 0 0 1 30
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 5 7 6 0 0 18
Versiti Diagnostic Laboratories, Versiti, Inc 9 0 0 0 1 10
NIHR Bioresource Rare Diseases, University of Cambridge 3 4 3 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 1 1 4 0 0 6
Baylor Genetics 1 3 1 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 2 2 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 2
New York Genome Center 1 1 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Variantyx, Inc. 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 1
3billion, Medical Genetics 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 0 1 0 0 1

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