Submissions for variant NM_032383.5(HPS3):c.2055G>A (p.Leu685=)

gnomAD frequency: 0.00300  dbSNP: rs140443498

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000219052	SCV000269145	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Leu685Leu in exon 11 of HPS3: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.5% (42/8600) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs140443498).
Illumina Laboratory Services, Illumina	RCV000328208	SCV000441561	likely benign	Hermansky-Pudlak syndrome 3	2018-01-12	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000972104	SCV001119798	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000328208	SCV001653451	likely benign	Hermansky-Pudlak syndrome 3	2021-05-18	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000972104	SCV005260882	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001273475	SCV001456556	benign	Hermansky-Pudlak syndrome	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000219052	SCV001923894	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000972104	SCV001971690	likely benign	not provided		no assertion criteria provided	clinical testing