ClinVar Miner

Variants studied for Intellectual developmental disorder 61

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
12 8 39 0 2 61

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
MED13 10 8 39 2 59
​intergenic 1 0 0 0 1
WDR1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance benign total
Revvity Omics, Revvity 0 0 9 0 9
OMIM 5 0 0 0 5
Baylor Genetics 0 1 4 0 5
New York Genome Center 0 0 5 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 3 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 2
Genome-Nilou Lab 0 0 0 2 2
3billion 0 1 1 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 2 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 1
Suma Genomics 0 0 1 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 1
Tammimies Lab, Karolinska Institutet 0 1 0 0 1

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