ClinVar Miner

Variants studied for von Willebrand disease type 1

Coded as:
Minimum submission review status: Collection method:
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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 total
59 43 99 3 63 1 254

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
VWF 59 42 98 3 63 1 252
CDH15 0 0 1 0 0 0 1
LOC126806115, LOC126806116, LOC400940, MIR7158, SILC1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Genome-Nilou Lab 0 0 0 0 60 0 60
Laboratory of Hematology, Radboud University Medical Center 31 8 13 2 1 0 55
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 7 7 33 0 0 0 47
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 4 14 27 0 0 0 45
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 4 7 0 0 0 11
Department of Laboratory Medicine, Ruijin Hospital 9 0 0 0 1 0 10
OMIM 7 0 0 0 0 0 7
Baylor Genetics 0 0 5 0 0 0 5
Mendelics 5 0 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 1 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 1 1 2 0 1 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 1 1 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 3 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 3 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 3 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
Laboratory of Genetic Engineering, National Medical Research Center for Hematology 0 1 0 1 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Arcensus 0 1 0 0 0 0 1
Department of Medical Genetics, Bayan National Lab for Medical Diagnostics 0 0 1 0 0 0 1

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