ClinVar Miner

Variants in gene TGFBR1

Minimum submission review status: Collection method:
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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 risk factor not provided total
24 33 273 106 35 4 1 433

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Familial thoracic aortic aneurysm and aortic dissection 12 9 151 61 21 0 0 247
Loeys-Dietz syndrome 1 8 4 113 35 9 0 0 168
Loeys-Dietz syndrome 4 3 61 39 10 0 0 114
not provided 6 17 60 22 8 0 1 111
not specified 0 0 19 33 15 0 0 63
Cardiovascular phenotype 3 3 30 11 5 0 0 52
Familial keratoacanthoma 0 0 0 0 0 4 0 4
Loeys-Dietz syndrome 1; Familial keratoacanthoma 1 0 1 0 0 0 0 2
Loeys-Dietz syndrome; Familial thoracic aortic aneurysm and aortic dissection 2 0 0 0 0 0 0 2
Aortic aneurysm, familial thoracic 6 0 0 1 0 0 0 0 1
Connective tissue disease 0 0 0 1 0 0 0 1
Craniosynostosis 0 0 1 0 0 0 0 1
Ehlers-Danlos syndrome, classic type 0 1 0 0 0 0 0 1
Familial thoracic aortic aneurysm and aortic dissection; Marfanoid habitus 0 0 1 0 0 0 0 1
Loeys-Dietz syndrome 1; Marfan syndrome 1 0 0 0 0 0 0 1
Marfan syndrome 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 108 38 9 0 0 152
Invitae 11 5 75 30 8 0 0 129
GeneDx 5 15 37 32 17 0 0 106
Ambry Genetics 3 3 30 11 8 0 0 55
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 1 11 7 6 0 0 25
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 3 0 12 5 3 0 0 23
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 14 4 0 0 0 18
Integrated Genetics/Laboratory Corporation of America 2 0 8 4 3 0 0 17
Blueprint Genetics 1 3 10 0 0 0 0 14
Color 0 0 5 6 3 0 0 14
OMIM 8 0 0 0 0 4 0 12
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 1 4 4 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 1 6 0 0 10
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 4 3 2 0 0 9
PreventionGenetics,PreventionGenetics 0 0 0 4 4 0 0 8
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 3 0 1 0 0 5
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 2 2 0 0 0 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 1 0 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 0 0 2
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 2 0 0 0 0 0 2
Centre for Genomic and Experimental Medicine,University of Edinburgh 1 1 0 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 0 1
Mendelics 0 0 0 1 0 0 0 1
Lineagen, Inc 1 0 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 0 0 0 1 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 1
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 1 0 0 1
Klinisk genetik och genomik Research,Gothenburg University 0 0 1 0 0 0 0 1

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