ClinVar Miner

Variants studied for Upshaw-Schulman syndrome

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 total
28 22 106 33 15 197

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 27 22 101 31 15 189
ADAMTS13, LOC130002910 1 0 5 1 0 7
ADAMTS13, LOC130002909 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 22
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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 Omics 0 2 7 0 0 9
Baylor Genetics 1 0 5 0 0 6
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 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
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
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
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 1

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