ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.6804G>A (p.Ala2268=)

gnomAD frequency: 0.00045  dbSNP: rs371847339
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
Invitae RCV000916416 SCV001061654 likely benign not provided 2023-07-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002420 SCV001160356 benign not specified 2019-03-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003933054 SCV004755638 likely benign PIEZO1-related condition 2022-07-14 criteria provided, single submitter clinical testing This variant is classified as likely 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.