ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.2305C>T (p.Leu769=)

gnomAD frequency: 0.84626  dbSNP: rs6505592
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247552 SCV000313901 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001689911 SCV001915703 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788133 SCV002029828 benign Marden-Walker syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788132 SCV002029829 benign Gordon syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788131 SCV002029830 benign Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788134 SCV002029831 benign Arthrogryposis, distal, with impaired proprioception and touch 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001689911 SCV002401041 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689911 SCV005248915 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.