ClinVar Miner

Variants in gene TCF4

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 total
119 54 222 140 115 604

Condition and significance breakdown #

Total conditions: 17
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Pitt-Hopkins syndrome 73 30 181 66 70 404
not provided 44 16 28 38 38 162
not specified 0 1 13 55 26 90
History of neurodevelopmental disorder 1 0 5 12 4 22
Inborn genetic diseases 8 5 0 0 0 13
Intellectual disability 2 1 1 0 0 4
Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3 3 1 0 0 0 4
See cases 2 1 1 0 0 4
Corneal dystrophy, Fuchs endothelial, 3 1 0 2 0 0 3
Microcephaly 2 0 1 0 0 3
Epicanthus; Global developmental delay; Stereotypy; Anteverted nares; Feeding difficulties in infancy; Short nose; Drooling 1 0 0 0 0 1
Esophageal atresia; Pyloric stenosis 0 0 1 0 0 1
Global developmental delay 1 0 0 0 0 1
Global developmental delay; Cerebral hypoplasia 1 0 0 0 0 1
Neurodevelopmental disorder 1 0 0 0 0 1
Oculomotor apraxia 0 0 0 1 0 1
Severe intellectual deficiency 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 33 7 71 70 19 200
GeneDx 30 9 16 62 54 171
Illumina Clinical Services Laboratory,Illumina 0 0 102 8 60 170
Genetic Services Laboratory, University of Chicago 13 8 9 11 4 45
Ambry Genetics 9 5 5 12 4 35
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 9 0 8 1 7 25
Athena Diagnostics Inc 0 0 2 1 8 11
CeGaT Praxis fuer Humangenetik Tuebingen 4 2 3 2 0 11
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 0 4 1 0 9
Mendelics 5 1 0 1 1 8
OMIM 7 0 0 0 0 7
Baylor Genetics 5 0 1 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 1 1 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 1 0 0 0 6
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 4 0 0 0 5
Quest Diagnostics Nichols Institute San Juan Capistrano 2 2 0 0 0 4
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 3 1 0 0 0 4
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 1 0 0 0 3
Diagnostic Laboratory, Strasbourg University Hospital 2 0 1 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 0 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 1 1 0 0 0 2
Lineagen, Inc 0 0 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 1 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 1 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 1 0 1 0 0 2
New York Genome Center 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 1 0 0 0 0 1
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Clinical Genetics laboratory, University of Goettingen 0 0 0 1 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 1
PreventionGenetics, PreventionGenetics 0 0 0 0 1 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
ISCA site 1 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 1 0 0 0 1
Clinical Genomics Laboratory,Laboratory for Precision Diagnostics, University of Washington 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
TIDEX, University of British Columbia 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 1
National Institute of Neuroscience,National Center of Neurology and Psychiatry 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.