ClinVar Miner

Variants studied for Mowat-Wilson syndrome

Coded as:
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
227 38 391 391 119 1 1096

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ZEB2 220 37 383 379 118 1 1067
LOC111721705, ZEB2 5 1 8 12 1 0 27
ARHGAP15, GTDC1, HNMT, KYNU, LRP1B, NXPH2, SPOPL, THSD7B, ZEB2 1 0 0 0 0 0 1
GTDC1, LINC01412, LINC02993, LOC110120671, LOC110121209, LOC111721705, LOC112806051, LOC122819163, LOC129388929, LOC129934870, LOC129934871, LOC129934872, LOC129934873, LOC129934874, TEX41, ZEB2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 101 4 326 366 97 0 894
Genome-Nilou Lab 15 1 28 29 55 0 128
Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics 31 0 0 0 0 0 31
Genetic Services Laboratory, University of Chicago 18 0 5 1 0 0 24
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia 22 1 0 0 0 0 23
Illumina Laboratory Services, Illumina 2 0 17 2 1 0 22
Baylor Genetics 8 1 11 0 0 0 20
OMIM 16 0 0 0 0 0 16
Fulgent Genetics, Fulgent Genetics 1 0 6 7 1 0 15
3billion 8 4 0 0 0 0 12
Revvity Omics, Revvity 3 3 5 0 0 0 11
Mendelics 7 1 1 2 0 0 11
GeneDx 8 0 1 0 0 0 9
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 4 0 3 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 3 3 1 1 0 0 8
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 5 1 0 0 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 1 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 0 4
Centogene AG - the Rare Disease Company 0 2 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 0 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 1 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 1 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 1 1 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 2
Laboratory of Medical Genetics, University of Torino 1 1 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Center of Medical Genetics and Primary Health Care 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 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 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 0 0 0 0 1
Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center 1 0 0 0 0 0 1

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