ClinVar Miner

Submissions for variant NM_021828.5(HPSE2):c.1736A>T (p.Tyr579Phe)

gnomAD frequency: 0.53113  dbSNP: rs10883100
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988440 SCV001138157 benign Urofacial syndrome type 1 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001675977 SCV001895784 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000988440 SCV001933104 benign Urofacial syndrome type 1 2021-08-10 criteria provided, single submitter clinical testing
Invitae RCV001675977 SCV002403797 benign not provided 2024-01-30 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.