Submissions for variant NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del)

dbSNP: rs111935323

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham 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).
Illumina Laboratory Services, 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	2024-01-29	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
GeneDx	RCV001651071	SCV001868720	benign	not provided	2018-12-24	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262804	SCV002542967	benign	Autoinflammatory syndrome	2021-07-09	criteria provided, single submitter	clinical testing