ClinVar Miner

Variants in gene GLI3

Minimum submission review status: Collection method:
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Gene type:
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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
73 10 137 179 78 1 1 420

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Pallister-Hall syndrome 31 0 59 71 15 0 0 176
not provided 12 5 42 82 45 0 1 172
Greig cephalopolysyndactyly syndrome 13 1 60 72 16 0 0 162
Polydactyly 0 0 59 71 15 0 0 145
not specified 0 0 8 53 35 0 0 88
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 14 1 23 5 7 0 0 50
Postaxial polydactyly type A1 3 1 0 0 0 0 0 4
Postaxial polydactyly, type A1/B 3 0 1 0 0 0 0 4
Greig cephalopolysyndactyly syndrome; Hamartoma of hypothalamus; Pallister-Hall syndrome; Preaxial polydactyly 4; Postaxial polydactyly type A1 0 0 3 0 0 0 0 3
GLI3-Related Disorders 0 0 2 0 0 0 0 2
Preaxial polydactyly 4 2 0 0 0 0 0 0 2
See cases 0 0 0 1 1 0 0 2
Congenital diaphragmatic hernia 0 0 0 0 0 1 0 1
Cronkhite-Canada syndrome 0 0 1 0 0 0 0 1
GLI3-related postaxial polydactyly 0 0 1 0 0 0 0 1
Global developmental delay; Macrocephalus; 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
Hirschsprung disease 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
Postaxial polydactyly B 1 0 0 0 0 0 0 1
White-sutton syndrome 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 14 1 23 78 38 0 0 154
Illumina Clinical Services Laboratory,Illumina 0 0 61 72 15 0 0 148
GeneDx 10 3 12 23 24 0 0 72
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 27 8 12 0 0 48
PreventionGenetics,PreventionGenetics 0 0 0 23 23 0 0 46
GeneReviews 30 0 0 0 0 0 0 30
OMIM 21 0 1 0 0 0 0 22
Genetic Services Laboratory, University of Chicago 1 0 6 8 0 0 0 15
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 5 0 0 6
Mendelics 0 1 0 3 1 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 2 1 0 0 0 4
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 0 3
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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 2 0 0 0 0 2
Ali Lab, Centre for Genetic Disorders,Banaras Hindu University 2 0 0 0 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 1 1 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 0 1
Lineagen, Inc 0 0 1 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 1 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
Daryl Scott Lab,Baylor College of Medicine 0 0 0 0 0 1 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
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
Genomic Medicine Lab, University of California San Francisco 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

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