ClinVar Miner

Submissions for variant NM_181507.2(HPS5):c.1785-13C>T (rs73430857)

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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 RCV000220806 SCV000269154 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 1785-13C>T in intron 14 of HPS5: This variant is not expected to have clinical s ignificance because it has been identified in 6.9% (302/4398) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs73430857).
PreventionGenetics,PreventionGenetics RCV000220806 SCV000316730 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268416 SCV000369620 likely benign Hermansky-Pudlak syndrome 5 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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