ClinVar Miner

Variants studied for thrombotic thrombocytopenic purpura

Included ClinVar conditions (2):
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
38 25 113 33 15 216

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 total
ADAMTS13 36 25 108 31 15 207
ADAMTS13, LOC130002910 2 0 5 1 0 8
ADAMTS13, LOC130002909 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 1 5 85 26 12 129
Fulgent Genetics, Fulgent Genetics 2 2 32 9 3 48
OMIM 24 0 0 0 0 24
Revvity Omics, Revvity 0 2 7 0 0 9
Baylor Genetics 1 0 5 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 0 0 0 0 5
Mendelics 1 0 0 0 4 5
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 4 1 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 3 0 0 4
MVZ Medizinische Genetik Mainz 0 1 3 0 0 4
Department of Hematology, 303rd Hospital of the People's Liberation Army 3 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 2
Department of Pediatrics, Third Xiangya Hospital of Central South University 0 2 0 0 0 2
3billion 2 0 0 0 0 2
Guangzhou First People’s Hospital, Institute of Blood Transfusion and Hematology,Guangzhou Medical University 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 1
Versiti Diagnostic Laboratories, Versiti, Inc 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
GenePathDx, GenePath diagnostics 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 1

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