ClinVar Miner

Submissions for variant NM_181507.1(HPS5):c.1785-13C>T (rs73430857)

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
Illumina Clinical Services Laboratory,Illumina RCV000268416 SCV000369620 likely benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220806 SCV000269154 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 1785-13C>T in intron 14 of HPS5: This variant is not expected to have clinical s ignificance because it has been identified in 6.9% (302/4398) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs73430857).
PreventionGenetics RCV000220806 SCV000316730 benign not specified 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.