ClinVar Miner

Variants in gene ZEB2

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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 total
189 27 226 221 77 656

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Mowat-Wilson syndrome 126 17 181 97 46 457
not provided 69 5 49 50 21 193
not specified 0 0 11 111 38 147
History of neurodevelopmental disorder 1 0 6 26 8 41
Inborn genetic diseases 8 0 1 0 0 9
Intellectual disability 1 1 0 0 0 2
Marfanoid habitus and intellectual disability 0 2 0 0 0 2
Abnormality of brain morphology 0 1 0 0 0 1
Fetal akinesia sequence; Arthrogryposis multiplex congenita 0 0 1 0 0 1
Hirschsprung disease 0 0 1 0 0 1
Hirschsprung disease-mental retardation syndrome, late infantile 1 0 0 0 0 1
Lennox-Gastaut syndrome 0 0 1 0 0 1
Neurodevelopmental disorder 1 0 0 0 0 1
See cases 0 1 0 0 0 1
Smith-Magenis Syndrome-like 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 42 2 140 108 47 339
GeneDx 43 0 25 107 46 221
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 26 1 17 8 18 70
Genetic Services Laboratory, University of Chicago 17 0 13 12 13 55
Ambry Genetics 9 0 7 26 8 50
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics 31 0 0 2 1 34
Illumina Clinical Services Laboratory,Illumina 0 0 17 2 1 20
Baylor Genetics 6 1 11 0 0 18
OMIM 15 0 0 0 0 15
CeGaT Praxis fuer Humangenetik Tuebingen 3 1 6 3 0 13
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 0 0 4 6 12
Athena Diagnostics Inc 0 0 5 1 4 10
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 5 0 1 2 1 9
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 4 0 3 0 8
Mendelics 4 1 1 2 0 8
Institute of Human Genetics, University of Leipzig Medical Center 3 1 0 1 0 5
Fulgent Genetics,Fulgent Genetics 1 0 3 0 0 4
Institute of Human Genetics, Klinikum rechts der Isar 3 1 0 0 0 4
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 1 0 1 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 0 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 1 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 0 0 3
PreventionGenetics, PreventionGenetics 0 0 0 1 1 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 1 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 1 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 1 0 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 1 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Center of Medical Genetics and Primary Health Care 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Cirak Lab,University Hospital Cologne 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 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
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 1

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