ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1020G>A (p.Val340=)

gnomAD frequency: 0.00001  dbSNP: rs145787996
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
Invitae RCV002145730 SCV002453101 likely benign Hermansky-Pudlak syndrome 2 2022-10-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261455 SCV002542690 uncertain significance Autoinflammatory syndrome 2019-02-01 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.