Submissions for variant NM_003664.5(AP3B1):c.687A>G (p.Leu229=)

gnomAD frequency: 0.01507  dbSNP: rs35496909

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000223104	SCV000268794	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Leu229Leu in exon 7 of AP3B1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 5.0% (221/4406) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs35496909).
PreventionGenetics, part of Exact Sciences	RCV000223104	SCV000309774	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000640591	SCV000458314	likely benign	Hermansky-Pudlak syndrome 2	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV000640591	SCV000762185	benign	Hermansky-Pudlak syndrome 2	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001527769	SCV001738901	benign	not provided	2018-12-24	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262806	SCV002543054	benign	Autoinflammatory syndrome	2019-12-01	criteria provided, single submitter	clinical testing