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
150 59 665 483 230 1 2 1361

Condition and significance breakdown #

Total conditions: 32
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 61 10 136 317 127 0 0 650
not provided 33 21 172 104 76 0 1 383
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 4 3 189 48 7 0 0 251
Greig cephalopolysyndactyly syndrome 24 7 91 33 96 0 1 247
Polydactyly 0 0 84 27 94 0 0 205
Pallister-Hall syndrome 10 2 50 31 94 0 0 187
Inborn genetic diseases 3 0 118 25 0 0 0 146
GLI3-related disorder 11 10 36 61 4 0 0 122
not specified 2 0 13 44 39 0 0 91
Polydactyly, postaxial, type A1 13 3 5 0 2 0 0 23
Polysyndactyly 4 5 0 0 0 2 0 0 7
Postaxial polydactyly, type A1/B 3 0 1 0 0 0 0 4
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: 87
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 61 10 133 334 127 0 0 665
GeneDx 22 11 112 52 81 0 0 278
Fulgent Genetics, Fulgent Genetics 2 0 186 48 7 0 0 243
Illumina Laboratory Services, Illumina 0 0 84 31 94 0 0 205
PreventionGenetics, part of Exact Sciences 10 10 36 81 27 0 0 164
Ambry Genetics 3 0 118 25 0 0 0 146
CeGaT Center for Human Genetics Tuebingen 6 5 15 34 9 0 0 69
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
Breakthrough Genomics, Breakthrough Genomics 0 0 1 17 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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 8 0 0 10
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 7 2 0 0 10
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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 0 0 0 0 6
3billion 2 3 1 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 1 0 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 1 0 0 0 4
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 4 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 2 0 0 0 0 0 4
Ali Lab, Centre for Genetic Disorders, Banaras Hindu University 4 0 0 0 0 0 0 4
New York Genome Center 0 0 4 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 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
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 1 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 1 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
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 0 2 0 0 0 0 2
MVZ Medizinische Genetik Mainz 1 0 1 0 0 0 0 2
Human Molecular Lab, Hazara University 2 0 0 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
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
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
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 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
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 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
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
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 1

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