ClinVar Miner

Variants in gene SETBP1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 not provided total
95 49 899 785 270 16 1883

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 58 11 727 735 264 2 1680
Inborn genetic diseases 6 1 146 42 0 0 195
SETBP1-related disorder 8 3 30 51 8 1 101
Intellectual disability, autosomal dominant 29 36 21 40 2 1 1 99
not specified 2 0 32 16 29 0 77
Schinzel-Giedion syndrome 11 7 19 17 13 0 66
Schinzel-Giedion syndrome; Intellectual disability, autosomal dominant 29 4 2 13 8 2 3 32
Intellectual disability 3 2 1 3 0 0 9
See cases 0 1 4 0 0 0 5
Acute myeloid leukemia 0 0 0 0 0 2 2
Developmental disorder 1 0 1 0 0 0 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
Abnormality of the nervous system 1 0 0 0 0 0 1
Atrial septal defect; Hydronephrosis; Cerebral atrophy; Large fontanelles; Penile hypospadias; Abnormal nail morphology; Teratoma; Midface retrusion 0 1 0 0 0 0 1
Cervical cancer 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita 1 0 0 0 0 0 1
Gastric cancer 0 0 0 0 0 1 1
Hereditary spastic paraplegia 8 0 0 1 0 0 0 1
Lung cancer 0 0 0 0 0 1 1
Lymphoma 0 1 0 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Neurodevelopmental disorder 0 1 0 0 0 0 1
Ovarian serous cystadenocarcinoma 0 0 0 0 0 1 1
Sarcoma 0 0 0 0 0 1 1
Seizure; Delayed speech and language development; Macrocephaly; Joint laxity; Generalized joint hypermobility 0 0 1 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 108
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 33 5 528 668 241 0 1475
GeneDx 28 1 143 46 50 0 268
Ambry Genetics 6 1 146 42 0 0 195
CeGaT Center for Human Genetics Tuebingen 1 0 42 68 9 0 120
PreventionGenetics, part of Exact Sciences 7 2 29 51 8 0 97
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 29 8 1 0 41
Revvity Omics, Revvity 1 2 32 4 0 0 39
Breakthrough Genomics, Breakthrough Genomics 0 0 4 10 16 0 30
Genetic Services Laboratory, University of Chicago 4 1 10 3 12 0 30
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 14 12 0 26
Athena Diagnostics 0 0 4 1 16 0 21
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 3 12 0 20
GenomeConnect - Simons Searchlight 7 5 4 0 0 0 16
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 5 6 0 15
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 10 2 2 0 15
Baylor Genetics 3 1 9 0 0 0 13
Fulgent Genetics, Fulgent Genetics 1 0 4 5 1 0 11
OMIM 11 0 0 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 0 3 1 0 0 11
3billion 3 4 1 1 0 0 9
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 9 9
Gharavi Laboratory, Columbia University 0 0 9 0 0 0 9
New York Genome Center 0 0 9 0 0 0 9
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 7 0 7
Institute of Human Genetics, University of Leipzig Medical Center 3 2 1 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 2 0 0 0 0 6
Mendelics 0 0 2 2 2 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 1 5 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 3 0 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 1 2 0 0 4
Centre of Medical Genetics, University Hospital Muenster 0 1 3 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 1 0 4
Eurofins Ntd Llc (ga) 1 0 2 1 0 0 4
GenomeConnect - Brain Gene Registry 0 0 0 0 0 4 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 4 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 3 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 1 1 0 3
Diagnostic Laboratory, Strasbourg University Hospital 1 2 0 0 0 0 3
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 1 2 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 1 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 2 0 0 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 2 0 0 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 0 1 0 0 2
Centre for Human Genetics, University of Kinshasa 2 0 0 0 0 0 2
Centre for Medical Genetics, Mumbai 0 0 0 2 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 1 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 2 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
Illumina Laboratory Services, Illumina 1 1 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 1 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 2 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 1 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 2 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 1 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 0 0 0 1 0 2
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Cirak Lab, University Hospital Cologne 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Department of Neurology, Zibo Changguo Hospital 1 0 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Human Genetics, University of Luebeck 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 0 1 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
Medical Genetics Clinic, University of Catania 0 0 1 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 0 1 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 1
Pediatric Department, Xiangya Hospital, Central South University 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Principal Investigator Group 2, Tianjin Key Laboratory of Human Development and Reproductive Regulation, Tianjin Central Hospital of Gynecology and Obstetrics 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 1 0 0 0 0 0 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 1 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1

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