Submissions for variant NM_022081.6(HPS4):c.686A>G (p.Glu229Gly)

gnomAD frequency: 0.81679  dbSNP: rs713998

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150822	SCV000198357	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Glu229Gly in exon 9 of HPS4: This variant is not expected to have clinical signi ficance because it has been identified in 31.1% (1372/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs713998).
PreventionGenetics, part of Exact Sciences	RCV000150822	SCV000313942	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000260978	SCV000437667	benign	Hermansky-Pudlak syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001519477	SCV001728351	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001519477	SCV001873611	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701685	SCV001933100	benign	Hermansky-Pudlak syndrome 4	2021-08-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001519477	SCV005273821	benign	not provided		criteria provided, single submitter	not provided