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
78 31 109 117 40 345

Condition and significance breakdown #

Total conditions: 12
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Pitt-Hopkins syndrome 41 19 73 65 22 209
not specified 0 1 12 55 25 89
not provided 33 9 21 2 4 68
History of neurodevelopmental disorder 1 0 5 12 4 22
Inborn genetic diseases 6 3 0 0 0 9
Corneal dystrophy, Fuchs endothelial, 3 1 0 2 0 0 3
Intellectual disability 2 0 1 0 0 3
See cases 2 0 1 0 0 3
Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3 2 0 0 0 0 2
Epicanthus; Global developmental delay; Stereotypy; Anteverted nares; Feeding difficulties in infancy; Short nose; Drooling 1 0 0 0 0 1
Global developmental delay; Cerebral hypoplasia 1 0 0 0 0 1
Severe intellectual deficiency 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 28 8 16 44 25 121
Illumina Clinical Services Laboratory,Illumina 0 0 47 49 13 109
Invitae 11 2 21 19 9 62
Genetic Services Laboratory, University of Chicago 13 8 9 11 4 45
Ambry Genetics 7 3 5 12 4 31
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 9 0 8 1 7 25
OMIM 7 0 0 0 0 7
Athena Diagnostics Inc 0 0 1 0 5 6
Center for Human Genetics, Inc 1 4 0 0 0 5
Baylor Miraca Genetics Laboratories, 4 0 0 0 0 4
HudsonAlpha Institute for Biotechnology 3 0 1 0 0 4
Diagnostic Laboratory,Strasbourg University Hospital 2 0 1 0 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 1 1 0 0 0 2
Mendelics 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 1 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 1 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 2 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 1 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 1
PreventionGenetics 0 0 0 0 1 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 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
Laboratory of Molecular Genetics,CHU RENNES 0 1 0 0 0 1
TIDEX,University of British Columbia 0 1 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 0 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 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.