ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.3935C>T (p.Ala1312Val)

gnomAD frequency: 0.00274  dbSNP: rs34246477
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000901746 SCV001046133 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000901746 SCV001158302 uncertain significance not provided 2020-05-29 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003992420 SCV004810057 likely benign Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 2024-04-04 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.