ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.5656G>A (p.Ala1886Thr)

gnomAD frequency: 0.00014  dbSNP: rs757753448
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811707 SCV002049371 uncertain significance not provided 2021-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001811707 SCV003299777 benign not provided 2022-08-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001811707 SCV005192734 uncertain significance not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV001811707 SCV005412519 uncertain significance not provided 2024-06-17 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.