ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.6570A>G (p.Pro2190=)

gnomAD frequency: 0.89832  dbSNP: rs6500491
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001672819 SCV000604641 benign not provided 2023-11-30 criteria provided, single submitter clinical testing
GeneDx RCV001672819 SCV001890298 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788262 SCV002029672 benign Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788263 SCV002029673 benign Lymphatic malformation 6 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001672819 SCV002405669 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001672819 SCV005250184 benign not provided criteria provided, single submitter not provided

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.