Submissions for variant NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg)

gnomAD frequency: 0.01058  dbSNP: rs78336249

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000222602	SCV000269146	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Gly739Arg in exon 12 of HPS3: This variant is not expected to have clinical sign ificance because it has been identified in 1.6% (135/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs78336249).
Illumina Laboratory Services, Illumina	RCV000264858	SCV000441563	benign	Hermansky-Pudlak syndrome 3	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000951069	SCV001097431	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000951069	SCV005303165	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001275846	SCV001461424	benign	Hermansky-Pudlak syndrome	2019-11-11	no assertion criteria provided	clinical testing