Submissions for variant NM_003664.5(AP3B1):c.2880C>T (p.Ala960=)

gnomAD frequency: 0.00398  dbSNP: rs62001052

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000289539	SCV000458280	uncertain significance	Hermansky-Pudlak syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000612645	SCV000711279	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Ala960Ala in exon 24 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 0.4% (32/8600) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs62001052).
Invitae	RCV000640588	SCV000762182	benign	Hermansky-Pudlak syndrome 2	2024-01-29	criteria provided, single submitter	clinical testing
Johns Hopkins Genomics, Johns Hopkins University	RCV000640588	SCV000992354	benign	Hermansky-Pudlak syndrome 2	2019-04-23	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263641	SCV002542912	benign	Autoinflammatory syndrome	2021-03-25	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000612645	SCV001921054	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727701	SCV001973171	likely benign	not provided		no assertion criteria provided	clinical testing