ClinVar Miner

Variants in gene SATB2

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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
86 38 78 90 24 1 301

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Chromosome 2q32-q33 deletion syndrome 43 14 67 73 20 0 216
not provided 33 17 6 20 2 0 75
History of neurodevelopmental disorder 2 0 5 12 2 0 21
Inborn genetic diseases 8 2 0 0 0 0 10
Intellectual disability 6 1 0 0 0 0 7
See cases 4 1 0 0 0 0 5
Autism spectrum disorder 0 1 0 0 0 0 1
Cleft palate 1 0 0 0 0 0 1
Cleft palate, isolated 1 0 0 0 0 0 1
Dystonia; Intellectual disability 0 1 0 0 0 0 1
Global developmental delay; Clinodactyly of the 5th finger; Abnormality of the dentition; Macrocephalus; Dolichocephaly; Cleft palate 1 0 0 0 0 0 1
Global developmental delay; Micrognathia; Abnormal facial shape; Microcephaly; Downturned corners of mouth; Speech articulation difficulties; Hyperplasia of midface 0 1 0 0 0 0 1
SATB2-Related Disorder 0 0 0 0 0 1 1
intellectual deficiency 0 0 1 0 0 0 1
not specified 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 12 3 62 83 22 0 182
GeneDx 25 12 2 0 0 0 39
Ambry Genetics 10 2 5 12 2 0 31
GeneReviews 13 0 0 0 0 0 13
CeGaT Praxis fuer Humangenetik Tuebingen 1 3 3 1 0 0 8
OMIM 6 0 0 0 0 0 6
Diagnostic Laboratory, Strasbourg University Hospital 6 0 0 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 3 2 0 0 0 6
Baylor Genetics 3 1 1 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 0 0 0 0 0 5
Mendelics 2 1 0 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 2 0 1 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 0 3
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 3 0 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 2 0 0 0 0 0 2
ISCA site 1 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 1 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 0 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 1 0 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Dr Meenakshi Bhat Group,Centre for Human Genetics 0 0 1 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 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
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Autoinflammatory diseases unit,CHU de Montpellier 1 0 0 0 0 0 1
National Institute of Neuroscience,National Center of Neurology and Psychiatry 1 0 0 0 0 0 1

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