Submissions for variant NM_022081.6(HPS4):c.1816C>T (p.His606Tyr)

gnomAD frequency: 0.86290  dbSNP: rs1894706

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150819	SCV000198354	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	His606Tyr in exon 12 of HPS4: This variant is not expected to have clinical sign ificance because it has been identified in 24.6% (1084/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs1894706).
PreventionGenetics, part of Exact Sciences	RCV000150819	SCV000313933	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000310549	SCV000437642	benign	Hermansky-Pudlak syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001519474	SCV001728348	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001519474	SCV001864169	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701770	SCV001933094	benign	Hermansky-Pudlak syndrome 4	2021-08-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001519474	SCV005273807	benign	not provided		criteria provided, single submitter	not provided