ClinVar Miner

Variants studied for Wiedemann-Steiner syndrome

Included ClinVar conditions (3):
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
31 8 3 1 0 43

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
KMT2A 27 8 3 1 39
SMC1A 2 0 0 0 2
KMT2A, LOC101929089 1 0 0 0 1
SMC3 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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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
UCLA Clinical Genomics Center, UCLA 2 2 0 0 4
Baylor Miraca Genetics Laboratories, 1 1 1 0 3
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 3 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 1
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 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

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