ClinVar Miner

Variants studied for von Willebrand disease type 1

Coded as:
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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
54 39 87 3 63 1 238

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
VWF 54 38 87 3 63 1 237
LOC126806115, LOC126806116, LOC400940, MIR7158, SILC1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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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
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 4 14 27 0 0 0 45
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 6 4 28 0 0 0 38
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
Genetics and Molecular Pathology, SA Pathology 1 1 2 0 1 0 5
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
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 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
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
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
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 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
Institute of Immunology and Genetics Kaiserslautern 1 0 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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