ClinVar Miner

Variants in gene TCF4

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Minimum submission review status: Collection method:
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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
159 89 380 349 144 1 1030

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Pitt-Hopkins syndrome 101 57 275 261 88 0 756
not provided 54 25 82 70 61 1 285
not specified 3 2 10 49 22 0 82
Inborn genetic diseases 13 7 20 27 4 0 71
TCF4-related condition 3 2 6 12 1 0 24
Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3 7 1 1 2 0 0 11
Corneal dystrophy, Fuchs endothelial, 3 1 1 3 0 3 0 8
Intellectual disability 2 1 2 0 0 0 5
See cases 1 1 3 0 0 0 5
Microcephaly 2 0 1 0 0 0 3
Global developmental delay 1 1 0 0 0 0 2
Autism spectrum disorder 1 0 0 0 0 0 1
Developmental disorder 1 0 0 0 0 0 1
Epicanthus; Global developmental delay; Stereotypic movement disorder; Anteverted nares; Feeding difficulties in infancy; Short nose; Drooling 1 0 0 0 0 0 1
Esophageal atresia; Pyloric stenosis 0 0 1 0 0 0 1
Global developmental delay; Cerebral hypoplasia 1 0 0 0 0 0 1
Hereditary spastic paraplegia 4 0 1 0 0 0 0 1
Intellectual disability, mild 1 0 0 0 0 0 1
Neurodevelopmental disorder 1 0 0 0 0 0 1
Oculomotor apraxia 0 0 0 1 0 0 1
SUDDEN INFANT DEATH SYNDROME 0 0 1 0 0 0 1
Seizure 0 0 0 1 0 0 1
Severe intellectual deficiency 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 101
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 57 16 159 254 37 0 523
GeneDx 40 10 56 78 67 0 251
Illumina Laboratory Services, Illumina 0 1 101 7 58 0 167
Ambry Genetics 13 7 20 27 4 0 71
CeGaT Center for Human Genetics Tuebingen 8 3 13 22 10 0 56
Genetic Services Laboratory, University of Chicago 14 9 7 13 6 0 49
PreventionGenetics, part of Exact Sciences 3 2 6 12 2 0 25
Eurofins Ntd Llc (ga) 8 0 6 1 7 0 22
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 5 9 0 4 3 0 21
Athena Diagnostics Inc 0 0 2 1 7 0 10
Revvity Omics, Revvity 2 5 2 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 0 4 1 0 0 9
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 7 2 0 0 0 0 9
Mendelics 6 1 0 1 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 3 1 0 0 7
OMIM 6 0 0 0 0 0 6
Baylor Genetics 5 0 1 0 0 0 6
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 4 0 0 0 0 5
Centogene AG - the Rare Disease Company 3 1 1 0 0 0 5
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 3 2 0 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 1 3 0 0 5
New York Genome Center 0 1 4 0 0 0 5
3billion 2 3 0 0 0 0 5
Quest Diagnostics Nichols Institute San Juan Capistrano 2 2 0 0 0 0 4
Clinical Genetics and Genomics, Karolinska University Hospital 3 1 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 0 0 0 0 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 1 2 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 3 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 2 1 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 0 0 1 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 4 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 2 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 1 2 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 1 0 0 0 0 3
Diagnostic Laboratory, Strasbourg University Hospital 2 0 1 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 0 1 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 1 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Molecular Genetics Lab, CHRU Brest 3 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 0 0 0 0 2
Bionano Laboratories 0 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 1 0 2
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 2 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 1 0 1 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 2 0 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Institute of Human Genetics, University of Goettingen 0 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington 0 1 0 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 0 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Human Development and Health, University of Southampton 0 0 0 0 0 1 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
TIDEX, University of British Columbia 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Robert's Program, Boston Children's Hospital 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 1
National Institute of Neuroscience, National Center of Neurology and Psychiatry 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Gene Friend Way, National Innovation Center 1 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 0 1

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