ClinVar Miner

Variants studied for Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

Coded as:
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 not provided total
52 37 57 34 14 4 191

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
POGZ 51 37 56 34 14 4 189
GLI2 1 0 0 0 0 0 1
GLI3 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 10 7 9 32 13 0 71
Revvity Omics, Revvity 1 1 21 0 0 0 23
Baylor Genetics 2 2 8 0 0 0 12
OMIM 11 0 0 0 0 0 11
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 4 0 0 0 0 7
Fulgent Genetics, Fulgent Genetics 2 0 0 4 0 0 6
3billion 4 2 0 0 0 0 6
Mendelics 2 2 0 1 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 5 0 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 2 1 0 0 0 5
New York Genome Center 0 0 5 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 3 2 0 0 0 5
GeneReviews 0 0 0 0 0 4 4
Illumina Laboratory Services, Illumina 2 0 2 0 0 0 4
Institute of Human Genetics, University of Goettingen 1 1 1 0 0 0 3
MGZ Medical Genetics Center 2 0 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 3 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 0 0 3
Molecular Genetics Lab, CHRU Brest 3 0 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 1 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 2 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 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 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1

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