ClinVar Miner

Variants studied for Wiedemann-Steiner syndrome

Coded as:
Minimum submission review status: Collection method:
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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
48 16 7 2 0 72

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 46 15 6 2 68
KMT2A, LOC101929089 1 1 1 0 3
SMC1A 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Mendelics 8 4 1 1 14
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 3 0 0 4
Genomic Medicine Lab, University of California San Francisco 4 0 0 0 4
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 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
Génétique des Maladies du Développement, 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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