ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.1195+36dup

dbSNP: rs66881450
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
GeneDx RCV001655421 SCV001868716 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788696 SCV002029717 benign Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788697 SCV002029718 benign Lymphatic malformation 6 2021-09-05 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.