ClinVar Miner

Submissions for variant NM_003664.4(AP3B1):c.1739T>G (p.Leu580Arg) (rs121908904)

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
OMIM RCV000006744 SCV000026936 pathogenic Hermansky Pudlak syndrome 2 1999-01-01 no assertion criteria provided literature only
GeneReviews RCV000006744 SCV000041034 pathologic Hermansky Pudlak syndrome 2 2012-10-11 no assertion criteria provided curation Converted during submission to Pathogenic.

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.