ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.1758+17C>T

gnomAD frequency: 0.03921  dbSNP: rs55646160
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
PreventionGenetics, part of Exact Sciences RCV000250590 SCV000313899 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001618466 SCV001845267 benign not provided 2018-07-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001618466 SCV002434372 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618466 SCV005248918 benign not provided criteria provided, single submitter not provided

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.