ClinVar Miner

Variants in gene TGFB3

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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
43 40 299 216 31 1 578

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Rienhoff syndrome 35 20 190 147 14 1 406
Familial thoracic aortic aneurysm and aortic dissection 2 13 118 58 6 0 190
not provided 8 12 89 53 19 0 175
not specified 0 0 13 20 9 0 40
Arrhythmogenic right ventricular dysplasia 1; Rienhoff syndrome 0 3 25 5 0 0 33
TGFB3-related condition 0 2 12 10 0 0 24
Arrhythmogenic right ventricular cardiomyopathy 0 0 10 0 0 0 10
Arrhythmogenic right ventricular dysplasia 1 3 0 7 0 0 0 10
Inborn genetic diseases 0 0 4 0 0 0 4
Loeys-Dietz syndrome 4 1 0 0 3 0 0 4
Long QT syndrome 0 0 2 0 1 0 3
Hypertrophic cardiomyopathy 0 0 1 1 0 0 2
See cases 0 0 2 0 0 0 2
Brugada syndrome 0 0 1 0 0 0 1
Cardiomyopathy 0 0 0 1 0 0 1
Developmental disorder 0 1 0 0 0 0 1
Flexion contracture 1 0 0 0 0 0 1
Left ventricular noncompaction 0 0 1 0 0 0 1
Premature ventricular contraction; Collapse (finding) 0 0 1 0 0 0 1
Primary dilated cardiomyopathy 0 0 0 1 0 0 1
TGFB3-related connective tissue disorders 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 31 18 187 154 14 0 404
Ambry Genetics 2 9 116 56 4 0 187
GeneDx 6 7 71 54 15 0 153
Fulgent Genetics, Fulgent Genetics 0 2 22 5 0 0 29
PreventionGenetics, part of Exact Sciences 0 2 12 10 0 0 24
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 10 7 6 0 23
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 4 9 5 3 0 21
CeGaT Center for Human Genetics Tuebingen 1 3 5 8 2 0 19
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 7 3 6 0 16
OMIM 8 0 0 0 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 3 3 1 0 7
Blueprint Genetics 0 2 4 0 0 0 6
Illumina Laboratory Services, Illumina 0 1 5 0 0 0 6
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 3 2 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 4 0 0 6
AiLife Diagnostics, AiLife Diagnostics 0 0 5 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 3 0 0 0 4
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 1 3 0 0 4
Baylor Genetics 1 0 2 0 0 0 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 2 1 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 0 3 0 0 0 3
Dept of Medical Biology, Uskudar University 0 0 2 0 1 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 0 0 2
3billion 0 1 1 0 0 0 2
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes 0 0 2 0 0 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 1 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Mendelics 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Center for Human Genetics, University of Leuven 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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