ClinVar Miner

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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