ClinVar Miner

Submissions for variant NM_181507.1(HPS5):c.1165-15C>A (rs7128146)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000345440 SCV000369630 likely benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155547 SCV000205248 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 1165-15C>A in intron 10 of HPS5: This variant is not expected to have clinical s ignificance because it has been identified in 19.6% (860/4396) of African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs7128146).
PreventionGenetics RCV000155547 SCV000316725 benign not specified criteria provided, single submitter clinical testing

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