Submissions for variant NM_022081.6(HPS4):c.1654G>A (p.Val552Met)

gnomAD frequency: 0.81665  dbSNP: rs5752330

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150820	SCV000198355	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Val552Met in exon 11 of HPS4: This variant is not expected to have clinical sign ificance because it has been identified in 31.2% (1373/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs5752330).
PreventionGenetics, part of Exact Sciences	RCV000150820	SCV000313932	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000267065	SCV000437647	benign	Hermansky-Pudlak syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001519475	SCV001728349	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001519475	SCV001915137	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701684	SCV001933095	benign	Hermansky-Pudlak syndrome 4	2021-08-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001519475	SCV005273811	benign	not provided		criteria provided, single submitter	not provided