ClinVar Miner

Variants studied for Wiedemann-Steiner syndrome

Coded as:
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Gene type:
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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
32 11 3 1 0 46

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 total
KMT2A 30 11 3 1 44
KMT2A, LOC101929089 1 0 0 0 1
SMC1A 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Genetic Services Laboratory, University of Chicago 6 3 1 0 10
OMIM 8 0 0 0 8
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 4 1 1 1 7
Baylor Genetics 2 2 1 0 5
UCLA Clinical Genomics Center, UCLA 2 2 0 0 4
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 2 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 1

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