ClinVar Miner

Variants in gene TGFB2

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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
38 33 161 73 38 3 308

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Holt-Oram syndrome 24 7 67 30 8 0 134
Loeys-Dietz syndrome 4 10 4 58 8 29 0 103
not provided 6 17 23 17 2 2 64
not specified 1 0 2 29 12 1 42
Cardiovascular phenotype 3 2 14 6 1 0 26
Loeys-Dietz syndrome 0 3 11 3 3 0 20
Familial thoracic aortic aneurysm and aortic dissection 1 1 11 2 5 0 19
Connective tissue disease 0 0 0 3 0 0 3
Inborn genetic diseases 2 0 1 0 0 0 3
Familial aortopathy 1 1 0 0 0 0 2
Aortic aneurysm 0 0 1 0 0 0 1
Hirschsprung disease 1 0 0 1 0 0 0 1
Isolated thoracic aortic aneurysm 0 0 1 0 0 0 1
Marfan syndrome 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 24 7 67 32 8 0 138
Illumina Clinical Services Laboratory,Illumina 0 0 61 10 26 0 97
GeneDx 6 13 14 31 9 0 73
Ambry Genetics 5 2 14 6 1 0 28
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 1 1 8 2 5 0 17
Integrated Genetics/Laboratory Corporation of America 1 1 0 4 5 0 11
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 2 1 0 6 0 10
Blueprint Genetics 0 7 3 0 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 7 2 0 0 9
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 1 0 3 1 0 6
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 2 1 2 0 6
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 6 0 0 0 0 0 6
OMIM 5 0 0 0 0 0 5
PreventionGenetics, PreventionGenetics 0 0 0 1 4 0 5
Baylor Genetics 0 1 2 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 1 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 0 2
Mendelics 0 0 0 2 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 0 1 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 2 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
Department of Molecular Biophysics, University of Lodz 0 0 0 0 0 1 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genetics Department, University Hospital of Toulouse 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Department of Vascular Biology,Beijing Anzhen Hospital 0 0 1 0 0 0 1

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