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
39 35 176 107 34 2 344

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Thoracic aortic aneurysm and aortic dissection 13 8 108 75 20 0 211
Loeys-Dietz syndrome 3 14 49 37 13 0 112
Marfan syndrome 0 0 43 37 12 0 92
not specified 0 0 24 42 24 0 78
not provided 13 10 44 1 6 0 73
Cardiovascular phenotype 5 0 7 8 9 0 29
Loeys-Dietz syndrome 2 19 1 2 0 0 0 22
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 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
Loeys-Dietz syndrome 1 0 1 1 0 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
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: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 13 9 34 34 18 0 108
Invitae 11 4 51 26 10 0 102
Illumina Clinical Services Laboratory,Illumina 0 0 43 37 12 0 92
Ambry Genetics 8 1 9 13 9 0 40
Color 0 0 8 18 10 0 36
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 4 16 5 7 0 34
Integrated Genetics/Laboratory Corporation of America 1 5 9 2 12 0 29
OMIM 20 0 0 0 0 0 20
Blueprint Genetics, 1 5 7 0 0 0 13
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 2 5 0 9
Fulgent Genetics 1 0 7 0 0 0 8
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
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 Medical Center 0 0 2 1 0 0 3
Centre for Genomic and Experimental Medicine,University of Edinburgh 2 1 0 0 0 0 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 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

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