ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.5694G>C (p.Glu1898Asp)

gnomAD frequency: 0.00472  dbSNP: rs201829917
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000881409 SCV001024581 benign not provided 2023-12-20 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000881409 SCV001716284 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000881409 SCV003800066 likely benign not provided 2023-09-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000881409 SCV004138134 benign not provided 2024-05-01 criteria provided, single submitter clinical testing PIEZO1: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003910387 SCV004725453 benign PIEZO1-related disorder 2019-05-03 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.