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
198 42 98 56 19 407

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 183 39 95 56 19 386
NFIX 13 3 2 0 0 18
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: 26
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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
Mendelics 7 1 3 0 2 13
Invitae 7 1 2 0 0 10
Fulgent Genetics,Fulgent Genetics 2 0 6 0 0 8
Baylor Genetics 7 0 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 5 0 0 0 6
Institute of Human Genetics,Klinikum rechts der Isar 3 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 1 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 0 1 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 1 0 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
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 2
Institute of Human Genetics,University of Goettingen 0 0 0 1 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 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
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 1

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