ClinVar Miner

Variants in gene GLI3

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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 risk factor not provided total
131 48 425 439 220 1 2 1097

Condition and significance breakdown #

Total conditions: 33
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 56 10 108 280 117 0 0 570
not provided 27 16 131 92 81 0 1 325
Greig cephalopolysyndactyly syndrome 23 5 91 33 96 0 1 244
Polydactyly 0 0 84 27 94 0 0 205
Pallister-Hall syndrome 10 1 48 31 94 0 0 184
GLI3-related condition 1 8 29 54 4 0 0 96
not specified 2 0 10 44 39 0 0 88
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 1 2 35 40 7 0 0 85
Inborn genetic diseases 3 0 51 15 0 0 0 69
Polydactyly, postaxial, type A1 11 3 4 0 2 0 0 20
Polysyndactyly 4 5 0 0 0 2 0 0 7
Postaxial polydactyly, type A1/B 3 0 1 0 0 0 0 4
GLI3-Related Disorders 1 0 2 0 0 0 0 3
Greig cephalopolysyndactyly syndrome; Hamartoma of hypothalamus; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 0 0 3 0 0 0 0 3
Hepatoblastoma 0 0 2 0 0 0 0 2
See cases 0 0 0 1 1 0 0 2
Abnormality of prenatal development or birth 1 0 0 0 0 0 0 1
Congenital diaphragmatic hernia 0 0 0 0 0 1 0 1
Craniosynostosis syndrome 1 0 0 0 0 0 0 1
Cronkhite-Canada syndrome 0 0 1 0 0 0 0 1
Disorder of sexual differentiation 0 0 1 0 0 0 0 1
GLI3-related postaxial polydactyly 0 0 1 0 0 0 0 1
Global developmental delay; Macrocephaly; Functional motor deficit; Generalized dystonia 0 0 1 0 0 0 0 1
Greig cephalopolysyndactyly syndrome, severe 1 0 0 0 0 0 0 1
Greig cephalopolysyndactyly syndrome; Polydactyly, postaxial, type A1 1 0 0 0 0 0 0 1
Hand polydactyly 0 1 0 0 0 0 0 1
Hirschsprung disease, susceptibility to, 1 0 1 0 0 0 0 0 1
Hyperreflexia; Ptosis; Postaxial hand polydactyly; Umbilical hernia; Babinski sign; Polysyndactyly of hallux; Basilar invagination; Short palpebral fissure 0 1 0 0 0 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 0 1 0 0 0 0 1
Postaxial polydactyly 0 0 0 0 1 0 0 1
Postaxial polydactyly type B 1 0 0 0 0 0 0 1
Postaxial polydactyly type B; Postaxial polydactyly type A 0 1 0 0 0 0 0 1
polysyndactyly 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 79
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 56 10 106 300 117 0 0 589
GeneDx 15 6 76 51 81 0 0 229
Illumina Laboratory Services, Illumina 0 0 86 31 94 0 0 207
PreventionGenetics, part of Exact Sciences 1 8 29 74 27 0 0 139
Fulgent Genetics, Fulgent Genetics 1 0 38 40 7 0 0 86
Ambry Genetics 3 0 51 15 0 0 0 69
CeGaT Center for Human Genetics Tuebingen 6 5 11 19 13 0 0 54
Eurofins Ntd Llc (ga) 1 0 27 8 12 0 0 48
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 4 0 2 4 13 0 0 23
OMIM 20 0 1 0 0 0 0 21
Genetic Services Laboratory, University of Chicago 1 0 7 9 4 0 0 21
Revvity Omics, Revvity 1 1 16 0 0 0 0 18
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 14 1 0 0 0 0 0 15
Clinical Genetics, Academic Medical Center 0 0 0 0 13 0 0 13
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 7 2 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 8 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 2 0 5 0 0 9
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 8 0 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 4 0 0 6
Mendelics 1 1 0 3 1 0 0 6
3billion 2 3 1 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 2 0 0 0 0 5
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 4 0 0 0 4
Ali Lab, Centre for Genetic Disorders, Banaras Hindu University 4 0 0 0 0 0 0 4
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 2 0 1 0 0 0 0 3
Blueprint Genetics 1 1 1 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 2 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 1 0 0 0 0 2
MGZ Medical Genetics Center 1 0 1 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 1 0 0 0 0 2
ISCA Site 6 0 0 0 1 1 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 2 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 0 0 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 1 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 1 0 0 2
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 0 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 0 1
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 1 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 0 0 0 1 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Department of Animal Sciences, Quaid-i-Azam University 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 0 1
Human Developmental Genetics, Institut Pasteur 0 0 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Gemeinschaftspraxis fuer Humangenetik Dresden 1 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 0 1

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