ClinVar Miner

Variants studied for Intellectual disability, autosomal dominant 13

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 total
15 37 79 10 10 150

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DYNC1H1 15 34 73 8 9 138
DYNC1H1, LOC126862060 0 2 4 2 1 9
DYNC1H1, LOC130056502 0 1 0 0 0 1
HIVEP2 0 0 1 0 0 1
MED13 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Institute of Human Genetics, University of Leipzig Medical Center 3 3 15 2 0 23
New York Genome Center 0 0 14 0 0 14
Genome-Nilou Lab 0 0 0 0 10 10
Neuberg Centre For Genomic Medicine, NCGM 0 2 8 0 0 10
3billion 1 3 5 0 0 9
Baylor Genetics 0 2 6 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 4 2 0 8
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 5 0 0 6
OMIM 5 0 0 0 0 5
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 5 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 1 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 4 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 3 0 0 0 3
MGZ Medical Genetics Center 0 0 3 0 0 3
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 1 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 2 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 1 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 1 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 1
Tongji Hospital, Huazhong University of Science and Technology 1 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 1

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