ClinVar Miner

Variants in gene GPC3

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 not provided total
71 24 512 369 87 4 978

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Wilms tumor 1 45 9 435 301 69 0 857
not provided 17 4 50 55 23 0 138
Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 0 0 44 14 0 0 58
Inborn genetic diseases 2 2 18 20 10 0 52
Simpson-Golabi-Behmel syndrome type 1 15 10 14 2 11 0 52
not specified 1 0 6 13 13 4 34
GPC3-related disorder 1 1 4 22 4 0 32
Hereditary cancer-predisposing syndrome 0 0 3 12 7 0 22
See cases 0 0 2 1 0 0 3
Intellectual disability 0 0 2 0 0 0 2
Global developmental delay 1 0 0 0 0 0 1
History of neurodevelopmental disorder 0 0 1 0 0 0 1
Ovarian cancer 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 43 9 433 302 71 0 858
GeneDx 12 2 27 40 21 0 102
Fulgent Genetics, Fulgent Genetics 0 0 43 14 0 0 57
Ambry Genetics 2 2 19 20 10 0 53
PreventionGenetics, part of Exact Sciences 1 1 4 24 6 0 36
CeGaT Center for Human Genetics Tuebingen 2 0 6 18 0 0 26
Sema4, Sema4 0 0 3 12 7 0 22
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 9 5 0 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 5 1 8 0 14
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 11 2 0 13
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 1 11 0 12
Breakthrough Genomics, Breakthrough Genomics 0 0 0 4 8 0 12
OMIM 11 0 0 0 0 0 11
Eurofins Ntd Llc (ga) 1 0 3 2 0 0 6
Baylor Genetics 0 0 5 0 0 0 5
Athena Diagnostics 0 0 2 0 3 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 3 1 0 5
Revvity Omics, Revvity 0 1 3 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 1 3 0 0 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 2 0 2 0 0 0 4
ITMI 0 0 0 0 0 4 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 2 0 4
Genetic Services Laboratory, University of Chicago 1 0 0 2 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 3 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
ISCA site 1 0 0 1 1 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 2 0 0 0 2
3billion 0 1 0 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
ISCA Site 6 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
University of Bologna, Medical Genetics Unit, University of Bologna 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 1
Medical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 0 0 0 1 0 1

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