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
257 67 175 31 3 516

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 257 67 175 31 3 516

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 91 22 120 24 0 257
Genetic Services Laboratory, University of Chicago 146 25 28 0 0 199
Center for Human Genetics, Inc,Center for Human Genetics, Inc 4 5 6 5 1 21
OMIM 13 0 0 0 0 13
Baylor Genetics 7 0 6 0 0 13
Mendelics 7 1 3 0 2 13
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 1 4 0 0 8
Fulgent Genetics,Fulgent Genetics 2 0 5 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 1 0 4 0 0 5
Clinical Genetics laboratory, University of Goettingen 0 3 0 1 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 3 0 0 0 4
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 1 0 3
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
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 2 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 2
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1

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