ClinVar Miner

Variants studied for intellectual disability, autosomal dominant 30

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
24 16 27 1 5 1 73

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 benign not provided total
ZMYND11 19 10 20 1 3 1 53
LOC126860802, ZMYND11 5 5 7 0 2 0 19
ATP2B1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Institute of Human Genetics, University of Leipzig Medical Center 6 8 0 0 0 0 14
OMIM 9 0 0 0 0 0 9
Revvity Omics, Revvity 0 0 8 0 0 0 8
Baylor Genetics 1 1 3 0 0 0 5
3billion 3 0 2 0 0 0 5
Genome-Nilou Lab 0 0 0 0 4 0 4
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 1 0 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 3 0 0 0 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 3 0 0 0 3
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 1 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 2 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN) 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1

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