ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.2055G>A (p.Leu685=) (rs140443498)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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 Clinical Services Laboratory,Illumina RCV000328208 SCV000441561 uncertain significance Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000972104 SCV001119798 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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