ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1438G>A (p.Ala480Thr)

gnomAD frequency: 0.00054  dbSNP: rs17109853
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
Eurofins Ntd Llc (ga) RCV000731072 SCV000858843 uncertain significance not provided 2017-12-29 criteria provided, single submitter clinical testing
Invitae RCV000731072 SCV001611077 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825464 SCV002083711 likely benign Hermansky-Pudlak syndrome 2019-10-28 no assertion criteria provided 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.