ClinVar Miner

Variants studied for intellectual disability, autosomal dominant 43

Included ClinVar conditions (1):
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 13 85 10 2 1 130

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HIVEP2 22 12 85 10 2 1 129
QARS1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Revvity Omics, Revvity 1 0 32 0 0 0 33
GenomeConnect - Simons Searchlight 6 4 2 0 0 0 12
New York Genome Center 0 0 11 0 0 0 11
Baylor Genetics 0 0 10 0 0 0 10
OMIM 6 0 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 0 6 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 1 4 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 5 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 5 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 1 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 1 0 0 0 3
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Molecular Genetics Lab, CHRU Brest 1 0 1 0 0 0 2
3billion 1 0 0 1 0 0 2
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 1 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 1

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