Submissions for variant NM_003664.5(AP3B1):c.2613C>T (p.His871=)

gnomAD frequency: 0.00295  dbSNP: rs144420604

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194031	SCV000246420	likely benign	not specified	2015-06-25	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000194031	SCV000268791	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	His871His in exon 23 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 0.5% (47/8600) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs144420604).
PreventionGenetics, part of Exact Sciences	RCV000194031	SCV000309771	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000405682	SCV000458285	uncertain significance	Hermansky-Pudlak syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000640587	SCV000762181	benign	Hermansky-Pudlak syndrome 2	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001701553	SCV002062596	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	AP3B1: BP4, BP7, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262781	SCV002542867	likely benign	Autoinflammatory syndrome	2020-07-01	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000194031	SCV001919703	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701553	SCV001929730	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701553	SCV001976260	likely benign	not provided		no assertion criteria provided	clinical testing