ClinVar Miner

Variants in gene TBX1

See also:
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
41 18 573 436 61 5 1061

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DiGeorge syndrome 27 7 389 296 34 0 750
Cardiovascular phenotype 0 0 145 172 10 0 327
not provided 8 5 116 63 41 1 219
TBX1-related disorder 0 3 26 31 2 0 62
not specified 0 0 21 13 13 0 46
Conotruncal heart malformations; Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot 0 0 13 5 0 2 20
Tetralogy of Fallot 1 2 3 0 0 0 6
Velocardiofacial syndrome 2 1 2 0 0 0 5
Velocardiofacial syndrome; DiGeorge syndrome 0 2 0 0 0 2 4
Conotruncal heart malformations 0 0 3 0 0 0 3
Conotruncal anomaly face syndrome 2 0 0 0 0 0 2
Inborn genetic diseases 1 0 1 0 0 0 2
See cases 0 0 0 1 1 0 2
Hypoplastic left heart syndrome 0 0 1 0 0 0 1
KBG syndrome 1 0 0 0 0 0 1
Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 23 3 386 298 34 0 744
Ambry Genetics 1 0 146 172 10 0 329
GeneDx 7 4 86 48 32 0 177
PreventionGenetics, part of Exact Sciences 0 1 26 31 2 0 60
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 16 7 9 0 33
CeGaT Center for Human Genetics Tuebingen 1 1 8 18 5 0 33
Breakthrough Genomics, Breakthrough Genomics 0 0 2 11 20 0 33
Athena Diagnostics 0 0 7 2 10 0 19
Fulgent Genetics, Fulgent Genetics 0 0 9 2 0 0 11
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 3 7 0 10
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 6 0 9
Clinical Genetics, Academic Medical Center 0 0 0 0 7 0 7
OMIM 6 0 0 0 0 0 6
Baylor Genetics 1 1 3 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 4 0 0 0 5
Revvity Omics, Revvity 0 0 5 0 0 0 5
New York Genome Center 0 1 4 0 0 0 5
Eurofins Ntd Llc (ga) 0 0 1 0 3 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 0 0 4
3billion 0 1 0 3 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 2 0 3
Mendelics 0 0 2 0 1 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 1 0 0 1
Blueprint Genetics 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
ISCA site 4 0 0 0 1 0 0 1
ISCA site 2 0 0 0 0 1 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Autoinflammatory diseases unit, CHU de Montpellier 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Biobizkaia Health Research Institute 1 0 0 0 0 0 1

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