ClinVar Miner

Variants studied for CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
73 32 16 5 0 123

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 total
CTNNB1 37 15 9 2 61
CTNNB1, LOC126806659 16 11 5 1 33
CTNNB1, LOC126806658 20 6 2 2 29

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
3billion 10 10 1 0 21
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 1 5 0 15
OMIM 9 0 0 0 9
Baylor Genetics 6 0 2 0 8
Fulgent Genetics, Fulgent Genetics 2 0 1 4 7
GenomeConnect - Simons Searchlight 5 0 0 0 5
Institute of Human Genetics Munich, TUM University Hospital 5 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 4 1 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 1 0 0 5
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 5 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 3 0 0 5
MVZ Martinsried, Medicover Genetics 3 0 1 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 2 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 2
Illumina Laboratory Services, Illumina 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 2 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 2
MGZ Medical Genetics Center 2 0 0 0 2
Molecular Genetics Laboratory, Motol Hospital 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 1
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 1
Dasa 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 1
Department of Medical Genetics, University of Szeged 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 1
Hwang Lab, John A. Moran Eye Center 1 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 1
New York Genome Center 1 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 1 0 1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana 0 1 0 0 1
Solve-RD Consortium 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 1

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