ClinVar Miner

Variants in gene GPC3

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
27 7 115 40 34 4 213

Condition and significance breakdown #

Total conditions: 7
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Wilms tumor 1 12 2 105 26 32 0 177
not specified 0 0 1 14 7 4 23
not provided 7 1 5 2 5 0 18
Simpson-Golabi-Behmel syndrome 10 3 0 0 0 0 13
History of neurodevelopmental disorder 0 1 1 2 5 0 9
See cases 2 0 3 1 0 0 6
Wilms tumor 1; Simpson-Golabi-Behmel syndrome 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 10 2 105 26 32 0 175
GeneDx 6 1 0 10 4 0 21
OMIM 11 0 0 0 0 0 11
Ambry Genetics 0 1 1 2 5 0 9
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
Athena Diagnostics Inc 0 0 1 0 3 0 4
PreventionGenetics 0 0 0 2 2 0 4
ITMI 0 0 0 0 0 4 4
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
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
Division of Genomic Diagnostics,The 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
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
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 1 0 0 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.