ClinVar Miner

Submissions for variant NM_003664.4(AP3B1):c.3020_3022CTG[1] (p.Ala1008del) (rs111935323)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000290585 SCV000458277 likely benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000540554 SCV000639576 benign Hermansky Pudlak syndrome 2 2017-08-04 criteria provided, single submitter clinical testing
Johns Hopkins Genomics,Johns Hopkins University RCV000540554 SCV000925952 benign Hermansky Pudlak syndrome 2 2019-03-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214551 SCV000268792 benign not specified 2015-12-09 criteria provided, single submitter clinical testing p.Ala1008del in exon 26 of AP3B1: This variant is not expected to have clinical significance because it has been identified in 12.02% (1251/10404) of African ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs111935323).

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