ClinVar Miner

Variants in gene ADAMTS13

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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 not provided total
29 10 45 26 30 33 147

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Upshaw-Schulman syndrome 24 10 37 22 2 0 94
not provided 1 0 10 0 2 33 46
not specified 0 0 0 6 28 0 34
Thrombotic thrombocytopenic purpura 4 0 0 0 0 0 4

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 1 5 36 22 2 0 66
UniProtKB/Swiss-Prot 0 0 0 0 0 33 33
PreventionGenetics 0 0 0 5 27 0 32
OMIM 23 0 0 0 0 0 23
GeneDx 1 0 4 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 1 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 1 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1

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