ClinVar Miner

Submissions for variant NM_022081.5(HPS4):c.1060T>A (p.Ser354Thr) (rs114685298)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000292720 SCV000437656 likely benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222422 SCV000269149 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ser354Thr in exon 11 of HPS4: This variant is not expected to have clinical sign ificance because it has been identified in 2.6% (116/4406) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs114685298).

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