Submissions for variant NM_003664.5(AP3B1):c.1683C>T (p.Leu561=)

gnomAD frequency: 0.04676  dbSNP: rs17192146

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155460	SCV000205151	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Leu561Leu in exon 16 of AP3B1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 6.8% (587/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs17192146).
PreventionGenetics, part of Exact Sciences	RCV000155460	SCV000309767	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000280057	SCV000458300	likely benign	Hermansky-Pudlak syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV001512412	SCV001719836	benign	Hermansky-Pudlak syndrome 2	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001675643	SCV001894714	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002260995	SCV002542768	benign	Autoinflammatory syndrome	2016-12-12	criteria provided, single submitter	clinical testing