ClinVar Miner

Variants studied for Sotos syndrome

Included ClinVar conditions (7):
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
188 39 94 56 18 391

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 benign total
NSD1 177 36 91 55 17 372
NFIX 9 3 2 1 1 16
APC2 1 0 1 0 0 2
CACNA1A, IER2, LYL1, NACC1, NFIX, STX10, TRMT1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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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
Illumina Clinical Services Laboratory,Illumina 0 0 51 51 16 118
Center for Human Genetics, Inc 4 5 6 5 1 21
OMIM 17 0 0 0 0 17
Invitae 3 1 2 1 1 8
Fulgent Genetics 2 0 6 0 0 8
Baylor Miraca Genetics Laboratories, 7 0 0 0 0 7
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 6 0 0 0 0 6
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 3 0 0 0 3
Laboratoire de Cytogenetique,Hospices Civils de Lyon 2 1 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 1 0 0 2
Mendelics 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
McKusick-Nathans Institute of Genetic Medicine,Johns Hopkins University 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
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 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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