ClinVar Miner

Variants in gene ADAMTS13

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Minimum submission review status: Collection method:
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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 not provided total
57 36 293 279 120 33 717

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 30 15 190 234 114 33 593
Upshaw-Schulman syndrome 27 22 102 31 15 0 190
not specified 0 0 13 12 31 0 55
ADAMTS13-related condition 2 4 11 22 2 0 41
Inborn genetic diseases 0 0 34 6 0 0 40
Thrombotic thrombocytopenic purpura 6 0 0 0 1 0 6
Three Vessel Coronary Disease 0 0 1 0 4 0 5
Atypical hemolytic-uremic syndrome 0 1 2 0 0 0 3
Thrombus 0 0 3 0 0 0 3
Abnormal bleeding; Thrombocytopenia 1 0 1 0 0 0 2
See cases 0 0 2 0 0 0 2
Stroke disorder 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 26 9 142 232 63 0 472
Illumina Laboratory Services, Illumina 1 5 81 24 12 0 123
GeneDx 2 0 11 0 65 0 78
PreventionGenetics, part of Exact Sciences 2 4 11 26 29 0 72
Mayo Clinic Laboratories, Mayo Clinic 5 5 39 0 0 0 49
Fulgent Genetics, Fulgent Genetics 2 2 32 9 3 0 48
Ambry Genetics 0 0 34 6 0 0 40
UniProtKB/Swiss-Prot 0 0 0 0 0 32 32
OMIM 23 0 0 0 0 0 23
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 8 3 0 0 13
CeGaT Center for Human Genetics Tuebingen 1 0 4 5 3 0 13
Genetic Services Laboratory, University of Chicago 0 1 3 5 3 0 12
Revvity Omics, Revvity 0 2 6 0 0 0 8
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 4 4 0 0 0 8
Baylor Genetics 1 0 5 0 0 0 6
Mendelics 1 0 1 0 4 0 6
Department of Cardiology, Chinese Academy of Medical Sciences, Fuwai Hospital 0 0 1 0 4 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 1 1 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 3 0 0 0 4
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 2 0 1 0 3
Department of Hematology, 303rd Hospital of the People's Liberation Army 3 0 0 0 0 0 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 0 0 3 0 0 0 3
Sydney Genome Diagnostics, Children's Hospital Westmead 0 1 2 0 0 0 3
Eurofins Ntd Llc (ga) 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Birmingham Platelet Group; University of Birmingham 1 0 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Department of Pediatrics, Third Xiangya Hospital of Central South University 0 2 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 1 1 0 0 0 2
3billion 2 0 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 0 1
GenePathDx, GenePath diagnostics 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1

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