ClinVar Miner

Submissions for variant NM_003664.4(AP3B1):c.2324T>A (p.Ile775Lys) (rs62001050)

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 RCV000371304 SCV000458290 likely benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000535554 SCV000639570 benign not provided 2019-02-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825052 SCV000966254 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ile775Lys in exon 20 of AP3B1: This variant is not expected to have clinical sig nificance because it has been identified in 2.3% (103/4400) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //; dbSNP rs62001050).

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.