ClinVar Miner

Variants in gene GPC3

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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
41 10 220 121 61 4 438

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Wilms tumor 1 24 4 205 98 56 0 386
not provided 8 2 10 18 9 0 45
not specified 0 0 1 14 7 4 23
Simpson-Golabi-Behmel syndrome type 1 10 3 3 0 0 0 16
History of neurodevelopmental disorder 0 1 1 2 5 0 9
See cases 2 0 3 1 0 0 6
Inborn genetic diseases 1 0 1 0 0 0 2
Intellectual disability 0 0 2 0 0 0 2
Global developmental delay 1 0 0 0 0 0 1
Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 22 4 203 109 60 0 398
GeneDx 6 1 0 10 4 0 21
OMIM 11 0 0 0 0 0 11
Ambry Genetics 1 1 2 2 5 0 11
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 6 0 6
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 3 2 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 5 0 0 0 6
Athena Diagnostics Inc 0 0 2 0 3 0 5
PreventionGenetics, PreventionGenetics 0 0 0 2 2 0 4
ITMI 0 0 0 0 0 4 4
Baylor Genetics 0 0 3 0 0 0 3
ISCA site 1 0 0 2 1 0 0 3
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
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 1 0 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare 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 - University of Regensburg 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
ISCA site 4 1 0 0 0 0 0 1
ISCA site 6 0 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 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

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