ClinVar Miner

Submissions for variant NM_004484.3(GPC3):c.338-5del (rs370737647)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202708 SCV000257817 benign not specified 2015-03-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000202708 SCV000539249 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Present in 32% of Europeans in ExAC, but fails inbreeding coefficient filter. Not predicted to impact splicing.
Ambry Genetics RCV000715974 SCV000846807 benign History of neurodevelopmental disorder 2017-07-13 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000990947 SCV001000917 benign Wilms tumor 1 2019-12-19 criteria provided, single submitter clinical testing
Mendelics RCV000990947 SCV001142018 benign Wilms tumor 1 2019-05-28 criteria provided, single submitter clinical testing

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.