ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.1219A>G (p.Arg407Gly)

gnomAD frequency: 0.38670  dbSNP: rs13333358
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 RCV001692158 SCV000604631 benign not provided 2023-11-30 criteria provided, single submitter clinical testing
GeneDx RCV001692158 SCV001911035 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788245 SCV002029713 benign Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788246 SCV002029714 benign Lymphatic malformation 6 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001692158 SCV002401535 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001692158 SCV005250295 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.