ClinVar Miner

Submissions for variant NM_003664.4(AP3B1):c.2661C>A (p.Phe887Leu) (rs139344924)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195042 SCV000246421 likely benign not specified 2015-07-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341119 SCV000458284 uncertain significance Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000527170 SCV000639572 benign Hermansky Pudlak syndrome 2 2017-12-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000195042 SCV000711280 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Phe887Leu in exon 23 of AP3B1: This variant is not expected to have clinical sig nificance because it has been identified in 1.2% (99/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs139344924).
Johns Hopkins Genomics,Johns Hopkins University RCV000527170 SCV000925948 benign Hermansky Pudlak syndrome 2 2019-03-20 criteria provided, single submitter clinical testing

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