ClinVar Miner

Variants in gene TGFB3

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Minimum submission review status: Collection method:
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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 total
21 23 155 91 17 280

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Loeys-Dietz syndrome 4 11 10 112 45 7 185
not provided 4 10 27 35 5 80
Cardiovascular phenotype 1 1 26 16 3 47
not specified 0 0 8 23 6 35
Loeys-Dietz syndrome 5 7 1 3 0 0 11
Familial thoracic aortic aneurysm and aortic dissection 0 2 4 2 2 10
Arrhythmogenic right ventricular cardiomyopathy 0 0 8 0 0 8
none provided 0 0 2 2 4 8
Arrhythmogenic right ventricular dysplasia, familial 1 3 0 3 0 0 6
Arrhythmogenic right ventricular dysplasia, familial 1; Loeys-Dietz syndrome 5 0 0 2 0 0 2
Hypertrophic cardiomyopathy 0 0 1 1 0 2
Brugada syndrome 0 0 1 0 0 1
Cardiomyopathy 0 0 0 1 0 1
Flexion contracture 1 0 0 0 0 1
Left ventricular noncompaction 0 0 1 0 0 1
Primary dilated cardiomyopathy 0 0 0 1 0 1
TGFB3-related connective tissue disorders 0 1 0 0 0 1
Ventricular extrasystoles; Collapse (finding) 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 11 10 112 58 7 198
GeneDx 3 7 17 31 8 66
Ambry Genetics 1 1 26 16 3 47
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 10 6 0 17
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 2 4 2 2 10
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 3 2 4 9
Integrated Genetics/Laboratory Corporation of America 0 0 4 2 3 9
OMIM 8 0 0 0 0 8
Blueprint Genetics 0 2 4 0 0 6
Illumina Clinical Services Laboratory,Illumina 0 1 5 0 0 6
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 1 3 0 4
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 2 1 0 3
Baylor Genetics 1 0 1 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 2 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 0 0 2
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Center for Human Genetics,University of Leuven 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 1

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