ClinVar Miner

Variants in gene SATB2

See also:
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 not provided total
111 61 159 244 80 14 617

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Chromosome 2q32-q33 deletion syndrome 62 34 115 217 62 10 486
not provided 41 18 34 32 26 0 146
Inborn genetic diseases 12 2 15 19 4 0 52
SATB2-related condition 1 4 6 11 0 0 22
SATB2 associated disorder 4 0 1 0 0 2 7
Intellectual disability 5 1 0 0 0 0 6
See cases 2 2 1 0 0 1 6
not specified 1 0 1 0 3 0 5
Neurodevelopmental disorder 1 1 0 0 0 0 2
Cleft palate 1 0 0 0 0 0 1
Developmental disorder 1 0 0 0 0 0 1
Dystonic disorder; Intellectual disability 0 1 0 0 0 0 1
Global developmental delay 0 0 1 0 0 0 1
Global developmental delay; Clinodactyly of the 5th finger; Abnormality of the dentition; Macrocephaly; Dolichocephaly; Cleft palate 1 0 0 0 0 0 1
Isolated cleft palate 1 0 0 0 0 0 1
SATB2-Related Disorder 0 0 0 0 0 1 1
SATB2-associated syndrome 0 0 1 0 0 0 1
intellectual deficiency 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 75
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 29 8 96 219 61 0 413
GeneDx 32 11 26 23 26 0 118
Ambry Genetics 12 2 15 19 4 0 52
PreventionGenetics, part of Exact Sciences 1 4 6 11 0 0 22
CeGaT Center for Human Genetics Tuebingen 1 2 6 7 0 0 16
GeneReviews 0 0 0 0 0 10 10
Zarate Arkansas Children's Genetics Clinic, Arkansas Children's Hospital 3 6 1 0 0 0 10
Revvity Omics, Revvity 2 1 6 0 0 0 9
3billion 6 2 0 0 0 0 8
Baylor Genetics 5 1 1 0 0 0 7
OMIM 6 0 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 1 0 0 0 6
Fulgent Genetics, Fulgent Genetics 2 0 2 2 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 4 2 0 0 0 0 6
Diagnostic Laboratory, Strasbourg University Hospital 5 0 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 1 0 0 0 0 5
Quest Diagnostics Nichols Institute San Juan Capistrano 3 0 1 0 0 0 4
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 3 1 0 0 0 0 4
Illumina Laboratory Services, Illumina 1 0 3 0 0 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 2 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 2 0 0 0 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 4 0 0 0 0 0 4
Mendelics 2 1 0 0 0 0 3
Clinical Genetics and Genomics, Karolinska University Hospital 2 1 0 0 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 2 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 1 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 1 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 1 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 0 0 2
Molecular Genetics laboratory, Necker Hospital 1 1 0 0 0 0 2
New York Genome Center 1 0 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 0 1 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
ISCA site 1 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 0 0 0 1
Laboratory of Molecular Genetics, CHU RENNES 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 1 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Dr Meenakshi Bhat Group, Centre for Human Genetics 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Raymond Lab, University of Cambridge 0 1 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Genesis Genoma Lab, Genesis Genoma Lab 0 1 0 0 0 0 1
Autoinflammatory diseases unit, CHU de Montpellier 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
National Institute of Neuroscience, National Center of Neurology and Psychiatry 1 0 0 0 0 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
DECIPHER, Wellcome Sanger Institute 0 0 0 0 0 1 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1

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