ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.3602C>T (p.Thr1201Met)

gnomAD frequency: 0.00080  dbSNP: rs372935580
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001464424 SCV001159998 likely benign not provided 2023-11-09 criteria provided, single submitter clinical testing
Invitae RCV001464424 SCV001668393 likely benign not provided 2023-12-07 criteria provided, single submitter clinical testing
GeneDx RCV001464424 SCV002756858 uncertain significance not provided 2022-05-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 34662886)
Mayo Clinic Laboratories, Mayo Clinic RCV001464424 SCV004227657 uncertain significance not provided 2023-06-07 criteria provided, single submitter clinical testing BP4
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001002143 SCV004242753 uncertain significance not specified 2024-02-06 criteria provided, single submitter clinical testing

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.