ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.1631C>T (p.Pro544Leu)

gnomAD frequency: 0.00011  dbSNP: rs375606908
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000228231 SCV000288571 benign Wilms tumor 1 2024-02-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258847 SCV002537449 likely benign Hereditary cancer-predisposing syndrome 2021-11-27 criteria provided, single submitter curation
GeneDx RCV003128603 SCV003805659 likely benign not provided 2018-07-23 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316283 SCV004015751 benign Simpson-Golabi-Behmel syndrome type 1 2023-07-07 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.