ClinVar Miner

Submissions for variant NM_024747.5(HPS6):c.516G>A (p.Gly172=) (rs3737243)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150832 SCV000198367 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Gly172Gly in exon 1 of HPS6: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 9.9% (847/8590) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs3737243).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000150832 SCV000224651 benign not specified 2016-04-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000150832 SCV000314396 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311876 SCV000360063 likely benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing

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