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 RCV000331308 SCV000441541 uncertain significance Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000215672 SCV000595169 likely benign not specified 2016-02-29 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 2019-03-04 criteria provided, single submitter clinical testing

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