ClinVar Miner

Variants in gene TGFBR2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
40 37 190 135 42 2 388

Condition and significance breakdown #

Total conditions: 23
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Thoracic aortic aneurysm and aortic dissection 14 8 125 64 19 0 218
not provided 13 10 49 54 18 0 139
Loeys-Dietz syndrome 4 13 49 37 13 0 112
Marfan syndrome 1 1 45 37 14 0 95
not specified 0 2 24 43 25 0 83
Cardiovascular phenotype 5 0 6 9 9 0 29
Loeys-Dietz syndrome 2 20 1 2 0 0 0 23
Loeys-Dietz syndrome 2; Malignant tumor of esophagus; Hereditary nonpolyposis colorectal cancer type 6 1 0 7 0 0 0 8
See cases 0 0 4 0 1 0 5
Connective tissue disorder 1 0 0 2 0 0 3
Hereditary nonpolyposis colorectal cancer type 6 3 0 0 0 0 0 3
Loeys-Dietz syndrome 1 1 1 1 0 0 0 3
Loeys-Dietz syndrome 2; Hereditary nonpolyposis colorectal cancer type 6 0 0 3 0 0 0 3
Congenital aneurysm of ascending aorta 0 0 1 1 0 0 2
Dilatation of ascending aorta; Dilatation 0 0 1 0 0 0 1
Familial colorectal cancer 0 1 0 0 0 0 1
Inborn genetic diseases 0 1 0 0 0 0 1
Loeys-Dietz syndrome; Dilatation of the thoracic aorta; Thoracic aortic dissection 0 0 0 0 0 1 1
Loeys-Dietz syndrome; Familial thoracic aortic aneurysm 0 0 0 0 0 1 1
Loeys-Dietz syndrome; Thoracic aortic aneurysm and aortic dissection 0 1 0 0 0 0 1
Lynch syndrome 0 0 1 0 0 0 1
Malignant tumor of esophagus 1 0 0 0 0 0 1
Wolff-Parkinson-White pattern 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 12 4 68 57 12 0 153
GeneDx 13 9 34 39 25 0 120
Illumina Clinical Services Laboratory,Illumina 0 0 43 37 12 0 92
Ambry Genetics 8 2 7 14 9 0 40
Color 0 0 8 18 10 0 36
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 3 4 16 5 7 0 35
Integrated Genetics/Laboratory Corporation of America 1 5 8 3 12 0 29
OMIM 20 0 0 0 0 0 20
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 4 4 9 0 19
Blueprint Genetics 1 5 7 0 0 0 13
PreventionGenetics,PreventionGenetics 0 0 0 6 6 0 12
Center for Human Genetics, Inc 1 0 5 5 0 0 11
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 1 3 4 3 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 4 4 0 0 9
Fulgent Genetics,Fulgent Genetics 1 0 7 0 0 0 8
Mendelics 1 0 2 1 2 0 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 2 1 2 0 5
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 3 1 0 0 4
ISCA site 14 0 0 4 0 0 0 4
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 3 1 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 3 0 0 0 4
CSER _CC_NCGL, University of Washington 0 0 2 1 0 0 3
Centre for Genomic and Experimental Medicine,University of Edinburgh 2 1 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Baylor Genetics 0 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 1
Lineagen, Inc 0 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 1 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Area of Clinical and Molecular Genetics,Hospital Universitario Vall de Hebron 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.