ClinVar Miner

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

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Total submissions: 3
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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 Hermansky Pudlak syndrome 2 2017-11-18 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: //evs.gs.washington.edu/EVS; dbSNP rs62001050).

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