ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.749T>C (p.Val250Ala)

gnomAD frequency: 0.85861  dbSNP: rs7184427
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001653871 SCV000604636 benign not provided 2023-11-30 criteria provided, single submitter clinical testing
Mendelics RCV000989649 SCV001140180 benign Lymphatic malformation 6 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001653871 SCV001862237 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788253 SCV002029724 benign Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000989649 SCV002029725 benign Lymphatic malformation 6 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001653871 SCV002342938 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001653871 SCV005250311 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.