ClinVar Miner

Variants studied for Intellectual disability, autosomal dominant 42

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 not provided total
22 18 14 0 0 9 53

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
GNB1 22 18 14 9 53

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance not provided total
OMIM 12 0 0 0 12
GeneReviews 0 0 0 9 9
3billion 4 2 2 0 8
Institute of Human Genetics, University of Leipzig Medical Center 3 2 2 0 7
Baylor Genetics 2 0 3 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 3
New York Genome Center 0 0 3 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 2
Revvity Omics, Revvity 1 0 1 0 2
MGZ Medical Genetics Center 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 0 0 2
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 2 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 1 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 2
Center of Human Genetics, Hôpital Erasme 1 1 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 1
KK Women’s and Children’s Hospital 0 1 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 0 1 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 1

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