ClinVar Miner

Variants studied for Intellectual disability, autosomal dominant 56

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
27 28 33 3 3 91

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
CLTC 24 22 27 2 3 75
CLTC, LOC125177523 3 2 2 0 0 7
CLTC, LOC126862609 0 3 3 1 0 7
CLTC, LOC125177523, LOC126862609, LOC130061329, PTRH2 0 1 0 0 0 1
MMP20 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 6 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 1 3 0 0 6
3billion 0 3 1 2 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 2 0 0 5
Baylor Genetics 1 0 3 0 0 4
Revvity Omics, Revvity 0 0 4 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 1 0 0 4
New York Genome Center 0 1 3 0 0 4
Centogene AG - the Rare Disease Company 0 0 3 0 0 3
Mendelics 2 0 1 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 3 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 2 0 0 3
Center of Human Genetics, Hôpital Erasme 1 2 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 1 2
MGZ Medical Genetics Center 0 1 1 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 2
Illumina Laboratory Services, Illumina 0 0 2 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 1 1 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 0 1 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 1
Precision Medical Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 1

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