ClinVar Miner

Variants in gene THBD

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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
6 10 414 133 48 3 569

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
not provided 0 0 311 112 26 0 440
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly; Thrombomodulin-related bleeding disorder 0 4 88 3 0 0 95
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly 0 1 39 6 38 3 85
Inborn genetic diseases 0 0 41 11 0 0 52
THBD-related disorder 0 0 5 10 3 0 18
Thrombomodulin-related bleeding disorder 5 1 10 0 0 0 16
not specified 0 0 5 5 4 0 14
Atypical hemolytic-uremic syndrome 1 0 6 4 2 1 12
Abnormal bleeding 0 2 3 0 0 0 5
Abnormal bleeding; Thrombocytopenia 0 2 3 0 0 0 5
Kidney disorder 0 0 1 1 1 0 3
Thrombus 0 0 2 0 0 0 2
Abnormal thrombosis 0 1 0 0 0 0 1
See cases 0 1 0 0 0 0 1
Variant of unknown significance 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 292 107 14 0 413
Fulgent Genetics, Fulgent Genetics 0 4 86 3 0 0 93
Illumina Laboratory Services, Illumina 0 0 36 6 38 0 80
Ambry Genetics 0 0 41 11 0 0 52
Mayo Clinic Laboratories, Mayo Clinic 0 0 27 0 0 0 27
GeneDx 0 0 12 1 6 0 19
PreventionGenetics, part of Exact Sciences 0 0 5 10 3 0 18
Breakthrough Genomics, Breakthrough Genomics 0 0 0 5 13 0 18
CeGaT Center for Human Genetics Tuebingen 0 0 4 5 4 0 13
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 3 5 3 0 11
OMIM 5 0 2 0 0 3 10
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 8 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 3 1 0 6
NIHR Bioresource Rare Diseases, University of Cambridge 0 3 3 0 0 0 6
Birmingham Platelet Group; University of Birmingham 0 2 3 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 0 1 1 2 0 4
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 2 0 0 1 4
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 2 0 1 0 3
Revvity Omics, Revvity 0 0 2 0 0 0 2
Blueprint Genetics 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 0 0 1
Mendelics 0 0 0 0 1 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Arcensus 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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