ClinVar Miner

Variants in gene TGFBR1

Minimum submission review status: Collection method:
Minimum conflict level:
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
28 39 339 134 35 4 1 530

Condition and significance breakdown #

Total conditions: 20
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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 18 9 218 104 23 0 0 360
Loeys-Dietz syndrome 1 8 7 114 35 9 0 0 172
Loeys-Dietz syndrome 5 3 61 39 10 0 0 115
not provided 6 18 62 24 8 0 1 115
not specified 0 0 21 34 15 0 0 65
Cardiovascular phenotype 2 3 31 11 5 0 0 52
none provided 0 0 2 2 4 0 0 8
Multiple self-healing squamous epithelioma 0 0 0 0 0 4 0 4
Isolated thoracic aortic aneurysm 0 0 2 0 0 0 0 2
Loeys-Dietz syndrome 1; Multiple self-healing squamous epithelioma 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 syndrome 0 0 1 0 0 0 0 1
Ehlers-Danlos syndrome, classic type 0 1 0 0 0 0 0 1
Familial aortopathy 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
Inborn genetic diseases 0 1 0 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: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 17 4 101 39 8 0 0 169
Illumina Clinical Services Laboratory,Illumina 0 0 108 38 9 0 0 152
Color Health, Inc 0 1 58 46 6 0 0 111
GeneDx 5 15 37 32 17 0 0 106
Ambry Genetics 2 4 31 11 8 0 0 56
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
Integrated Genetics/Laboratory Corporation of America 3 1 10 6 3 0 0 23
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 16 7 0 0 0 23
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 5 3 7 0 0 15
Blueprint Genetics 1 3 10 0 0 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
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 4 0 1 0 0 6
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 2 2 0 0 0 0 4
Baylor Genetics 0 2 1 0 0 0 0 3
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
Department of Vascular Biology,Beijing Anzhen Hospital 0 0 2 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 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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