ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.2167C>T (p.Arg723Cys)

gnomAD frequency: 0.00031  dbSNP: rs182793773
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002045551 SCV002305066 benign not provided 2023-12-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002045551 SCV003813015 uncertain significance not provided 2021-09-22 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002045551 SCV005412557 uncertain significance not provided 2023-12-29 criteria provided, single submitter clinical testing BP4

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.