ClinVar Miner

Variants studied for Sotos syndrome 1

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
175 36 41 6 1 257

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NSD1 175 36 41 6 1 257

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genetic Services Laboratory, University of Chicago 146 25 31 0 0 202
Center for Human Genetics, Inc 4 5 6 5 1 21
OMIM 13 0 0 0 0 13
Fulgent Genetics 2 0 5 0 0 7
Baylor Miraca Genetics Laboratories, 6 0 0 0 0 6
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 0 1 0 0 3
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 3 0 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 1 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 1 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 2
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 1 0 0 0 2
Mendelics 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 1 0 0 0 0 1

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