ClinVar Miner

Variants in gene TBX5

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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
127 31 91 46 57 326

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Holt-Oram syndrome 67 14 49 9 50 184
Aortic valve disease 2 39 5 30 12 8 94
not provided 31 8 11 20 8 78
Cardiovascular phenotype 0 0 7 14 5 26
not specified 0 0 0 6 10 14
Congenital heart disease (variable) 0 2 0 0 0 2
Heart, malformation of 1 1 0 0 0 2
Atrial septal defect 1 1 0 0 0 0 1
Atrioventricular septal defect 0 1 0 0 0 1
Holt-Oram syndrome; Cardiomyopathy, left ventricular noncompaction 1 0 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 1
Primary dilated cardiomyopathy 0 0 0 1 0 1
Secundum atrial septal defect; Mitral regurgitation; Ventricular septal defect 1 0 0 0 0 1
See cases 1 0 0 0 0 1
Thumb deformity (disease); Atrial septal defect; Small thenar eminence; Clubbing of fingers; Blue nevus; Abnormality of radial ray 0 1 0 0 0 1
Wolff-Parkinson-White pattern 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 39 5 30 24 11 109
Illumina Clinical Services Laboratory,Illumina 1 0 44 8 49 102
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 50 11 3 0 0 64
GeneDx 24 7 2 0 3 36
Ambry Genetics 1 0 7 14 5 27
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 5 2 3 11
OMIM 10 0 0 0 0 10
PreventionGenetics, PreventionGenetics 0 0 0 4 4 8
Integrated Genetics/Laboratory Corporation of America 0 3 0 0 5 8
Mendelics 2 0 1 1 1 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 3 1 5
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 2 1 0 5
Baylor Genetics 3 1 0 0 0 4
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 1 1 0 0 0 2
Molecular Genetics and Enzymology, National Research Centre 1 0 1 0 0 2
Comparative, Adaptive and Functional Skeletal Biology,CCMAR - University of Algarve 2 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 1
Blueprint Genetics 0 0 1 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
ISCA site 1 1 0 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 1
Human Genetics and Genome Research Division,National Research Centre 0 1 0 0 0 1
School of Life Sciences,Manipal University 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 1
Center for Basic Medical Research,TEDA International Cardiovascular Hospital 1 0 0 0 0 1
Embryology Laboratory,Victor Chang Cardiac Research Institute 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Genetics and Genomics Program,Sidra Medicine 0 0 0 1 0 1

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