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
19 27 204 85 30 4 1 340

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Thoracic aortic aneurysm and aortic dissection 8 4 123 56 17 0 0 206
Loeys-Dietz syndrome 1 8 2 65 38 9 0 0 121
Loeys-Dietz syndrome 5 3 61 39 10 0 0 115
not provided 5 17 57 3 4 0 1 85
not specified 0 0 19 32 15 0 0 62
Cardiovascular phenotype 3 3 30 11 5 0 0 52
Multiple self healing squamous epithelioma 0 0 0 0 0 4 0 4
Loeys-Dietz syndrome 1; Multiple self healing squamous epithelioma 1 0 1 0 0 0 0 2
Connective tissue disorder 0 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, classic type 0 1 0 0 0 0 0 1
Marfan syndrome 0 0 0 1 0 0 0 1
Thoracic aortic aneurysm and aortic dissection; Marfanoid habitus 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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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 60 38 9 0 0 107
GeneDx 5 15 37 27 13 0 0 97
Invitae 7 1 49 16 6 0 0 79
Ambry Genetics 3 3 30 12 7 0 0 55
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 12 5 3 0 0 22
Integrated Genetics/Laboratory Corporation of America 2 0 9 3 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
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 5 5 1 0 0 11
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 8 1 0 0 0 9
PreventionGenetics 0 0 0 4 4 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 1 4 0 0 7
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 2 2 0 0 0 0 4
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 2 0 1 0 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 1 0 0 0 0 0 2
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,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 Medical Center 0 0 1 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 1 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

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