ClinVar Miner

Variants studied for Intellectual disability, autosomal dominant 24

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
19 17 32 1 8 69

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 total
DEAF1 19 17 31 1 5 65
DEAF1, LOC126861109 0 0 1 0 3 4

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 11 0 0 0 0 11
Baylor Genetics 0 4 5 0 0 9
Genome-Nilou Lab 0 0 0 0 8 8
Mendelics 2 2 1 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 3 2 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 1 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 1 0 3
3billion 1 1 1 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 1

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