ClinVar Miner

Submissions for variant NM_024747.6(HPS6):c.516G>A (p.Gly172=) (rs3737243)

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Total submissions: 5
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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 benign Hermansky-Pudlak syndrome 6 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001520021 SCV001729015 benign not provided 2020-12-04 criteria provided, single submitter clinical testing

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