Submissions for variant NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) (rs34388030)

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Total submissions: 5

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine	RCV000215672	SCV000269147	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Glu275Lys in exon 3 of HPS3: This variant is not expected to have clinical signi ficance because it has been identified in 1.9% (84/4406) of African American chr omosomes from a broad population by the NHLBI Exome Sequencing Project (http://e vs.gs.washington.edu/EVS; dbSNP rs34388030).
Illumina Clinical Services Laboratory,Illumina	RCV000666103	SCV000441541	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.
Genetic Services Laboratory, University of Chicago	RCV000215672	SCV000595169	benign	not specified	2019-10-31	criteria provided, single submitter	clinical testing
Counsyl	RCV000666103	SCV000790344	likely benign	Hermansky-Pudlak syndrome 3	2017-03-16	criteria provided, single submitter	clinical testing
Invitae	RCV000888939	SCV001032596	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing

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