ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.11T>C (p.Val4Ala) (rs58548334)

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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 RCV000150815 SCV000198350 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Val4Ala in exon 3 of HPS1: This variant is not expected to have clinical signifi cance because it has been identified in 6.3% (277/4406) of African American chro mosomes from a broad population by the NHLBI Exome Sequencing Project (http://ev; dbSNP rs58548334).
PreventionGenetics,PreventionGenetics RCV000150815 SCV000302922 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340154 SCV000359680 likely benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing

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