ClinVar Miner

Variants studied for Intellectual disability, autosomal dominant 53

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
10 10 5 0 5 29

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
CAMK2A 10 10 5 5 29

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance benign total
OMIM 8 0 0 0 8
Genome-Nilou Lab 0 0 0 5 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 2 0 0 2
New York Genome Center 0 0 2 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 1
MGZ Medical Genetics Center 0 1 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 1

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