ClinVar Miner

Variants studied for Severe intellectual disability-progressive spastic diplegia syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
54 22 9 0 0 83

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CTNNB1 24 13 5 40
CTNNB1, LOC126806659 14 7 3 24
CTNNB1, LOC126806658 16 2 1 19

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance total
3billion 6 6 1 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 3 8
OMIM 7 0 0 7
Baylor Genetics 4 0 2 6
Institute of Human Genetics, University of Leipzig Medical Center 4 1 0 5
GenomeConnect - Simons Searchlight 5 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 3 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 0 0 4
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 3 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 3 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 3 0 0 3
MGZ Medical Genetics Center 2 0 0 2
Illumina Laboratory Services, Illumina 2 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 1 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 1
Department of Medical Genetics, University of Szeged 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 1
Undiagnosed Diseases Network, NIH 0 1 0 1
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 1 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 1
New York Genome Center 1 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 1
DASA 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 1
Hwang Lab, John A. Moran Eye Center 1 0 0 1

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