ClinVar Miner

Submissions for variant NM_181507.1(HPS5):c.3046G>A (p.Glu1016Lys) (rs17853184)

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
Fulgent Genetics,Fulgent Genetics RCV000763726 SCV000894610 uncertain significance Hermansky-Pudlak syndrome 5 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324348 SCV000369604 uncertain significance Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000606575 SCV000711326 likely benign not specified 2018-07-03 criteria provided, single submitter clinical testing The p.Glu1016Lys variant in HPS5 is classified as likely benign because it has b een identified in 0.23 % (290/126656) of European chromosomes by the Genome Aggr egation Database (gnomAD, http://gnomad.broadinstitute.org) and computational pr ediction tools and conservation analysis suggest that the p.Glu1016Lys variant m ay not impact the protein. ACMG/AMP Criteria applied: BS1, BP4.

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.