ClinVar Miner

Submissions for variant NM_181507.1(HPS5):c.2537C>T (p.Pro846Leu) (rs144875223)

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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 RCV000278949 SCV000369609 likely benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000614729 SCV000711327 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Pro846Leu in exon 17 of HPS5: This variant is not expected to have clinical sign ificance because it has been identified in 5.5% (6/110) of Puerto Rican chromoso mes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih .gov/projects/SNP; dbSNP rs144875223).
Invitae RCV000949770 SCV001096038 benign not provided 2018-12-28 criteria provided, single submitter clinical testing

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