ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.1509G>A (p.Met503Ile)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851268 SCV000899519 likely pathogenic Hermansky-Pudlak syndrome 2019-02-01 criteria provided, single submitter research
University of Washington Center for Mendelian Genomics,University of Washington RCV000851268 SCV000993524 likely pathogenic Hermansky-Pudlak syndrome 2015-12-18 no assertion criteria provided research

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.