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
43 52 343 188 44 2 596

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Familial thoracic aortic aneurysm and aortic dissection 19 15 250 148 23 0 433
not provided 13 12 55 37 10 0 124
Loeys-Dietz syndrome 5 15 44 32 10 0 102
not specified 0 2 27 46 27 0 90
Loeys-Dietz syndrome 2 20 3 44 8 11 0 85
Marfan syndrome 1 1 42 33 9 0 84
Cardiovascular phenotype 5 0 6 9 9 0 29
Loeys-Dietz syndrome 2; Malignant tumor of esophagus; Hereditary nonpolyposis colorectal cancer type 6 1 0 7 0 0 0 8
none provided 0 0 0 2 4 0 6
Isolated thoracic aortic aneurysm 0 3 2 0 0 0 5
See cases 0 0 4 0 1 0 5
Connective tissue disease 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
Malignant tumor of esophagus 1 1 1 0 0 0 3
Congenital aneurysm of ascending aorta 0 0 1 1 0 0 2
Inborn genetic diseases 0 1 1 0 0 0 2
Dilatation of ascending aorta; Dilatation 0 0 1 0 0 0 1
Epilepsy, familial temporal lobe, 7 0 0 1 0 0 0 1
Familial colorectal cancer 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; Familial thoracic aortic aneurysm and aortic dissection 0 1 0 0 0 0 1
Lynch syndrome 0 0 1 0 0 0 1
Wolff-Parkinson-White pattern 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 17 10 119 71 12 0 229
Color Health, Inc 0 0 111 90 11 0 212
GeneDx 13 9 34 39 25 0 120
Illumina Clinical Services Laboratory,Illumina 0 0 66 37 12 0 110
Ambry Genetics 8 2 8 14 9 0 41
Integrated Genetics/Laboratory Corporation of America 1 6 12 6 14 0 39
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 5 15 5 7 0 36
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 1 2 8 6 5 0 22
OMIM 20 0 0 0 0 0 20
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 2 4 5 9 0 20
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 10 8 0 0 20
Blueprint Genetics 1 5 7 0 0 0 13
PreventionGenetics, PreventionGenetics 0 0 0 6 6 0 12
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 0 5 5 0 0 11
Fulgent Genetics,Fulgent Genetics 1 0 7 0 0 0 8
Mendelics 1 0 2 1 2 0 6
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 3 1 0 0 2 0 6
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 2 1 2 0 5
Department of Vascular Biology,Beijing Anzhen Hospital 0 3 2 0 0 0 5
Baylor Genetics 1 1 2 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 1 1 0 0 0 3
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 2 0 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 1 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
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 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
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 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
Institute of Human Genetics, University of Leipzig Medical Center 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

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