ClinVar Miner

Variants studied for Intellectual disability, autosomal dominant 45

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 17 96 10 0 136

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
CIC 15 16 95 9 134
CIC, LOC130064572 0 0 1 1 1
CIC, PAFAH1B3 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
New York Genome Center 0 0 20 0 20
Revvity Omics, Revvity 0 0 12 1 13
Baylor Genetics 1 0 11 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 4 3 9
Neuberg Centre For Genomic Medicine, NCGM 0 0 9 0 9
MVZ Medizinische Genetik Mainz 1 2 6 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 6 1 7
OMIM 5 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 3 2 5
Institute of Human Genetics, University of Leipzig Medical Center 0 3 1 1 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 4 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 2 4
Tan Lab, Dept of Cell Biology, University of Alberta 4 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 3 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 2
Mendelics 0 1 0 1 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 2
Molecular Genetics Lab, CHRU Brest 0 0 2 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 2 0 2
MGZ Medical Genetics Center 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 1
Breda Genetics srl 0 0 1 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 1
3billion 0 0 1 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 1
Solve-RD Consortium 0 1 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 1

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