Submissions for variant NM_022081.6(HPS4):c.1327C>G (p.Leu443Val)

gnomAD frequency: 0.35365  dbSNP: rs2014410

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150821	SCV000198356	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Leu443Val in exon 11 of HPS4: This variant is not expected to have clinical sign ificance because it has been identified in 41.1% (3536/8600) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs2014410).
PreventionGenetics, part of Exact Sciences	RCV000150821	SCV000313931	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000371919	SCV000437652	benign	Hermansky-Pudlak syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001519476	SCV001728350	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001519476	SCV001829236	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701619	SCV001933096	benign	Hermansky-Pudlak syndrome 4	2021-08-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001519476	SCV005273812	benign	not provided		criteria provided, single submitter	not provided