ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.884+25del

dbSNP: rs10693502
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
Illumina Laboratory Services, Illumina RCV000289873 SCV000441546 likely benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001513341 SCV001720941 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699380 SCV001922808 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001513341 SCV001931047 likely benign not provided 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.