ClinVar Miner

Submissions for variant NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) (rs61884288)

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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 RCV000150824 SCV000198359 benign not specified 2014-11-12 criteria provided, single submitter clinical testing p.Thr1098Ile in exon 22 of HPS5: This variant is not expected to have clinical s ignificance because it has been identified in 3.7% (320/8586) of European Americ an chromosomes by the NHLBI Exome Sequencing Project ( du/EVS/; dbSNP rs61884288).
PreventionGenetics,PreventionGenetics RCV000150824 SCV000316735 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000021032 SCV000369598 benign Hermansky-Pudlak syndrome 5 2018-03-06 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000150824 SCV000855687 benign not specified 2017-07-24 criteria provided, single submitter clinical testing
GeneReviews RCV000021032 SCV000041686 pathologic Hermansky-Pudlak syndrome 5 2012-10-11 no assertion criteria provided curation Converted during submission to Pathogenic.

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