ClinVar Miner

Submissions for variant NM_003664.4(AP3B1):c.2409_2411del (p.Lys804del) (rs199702315)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156430 SCV000206148 benign not specified 2014-04-10 criteria provided, single submitter clinical testing Lys804del in exon 21 of AP3B1: This variant is not expected to have clinical sig nificance because it has been identified in 1.85% (161/8721) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs199702315).
Illumina Clinical Services Laboratory,Illumina RCV000301461 SCV000458286 likely benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000548055 SCV000639571 benign Hermansky Pudlak syndrome 2 2017-07-31 criteria provided, single submitter clinical testing

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