ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) (rs11592273)

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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 RCV000155543 SCV000205243 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Gly283Trp in exon 9 of HPS1: This variant is not expected to have clinical signi ficance because it has been identified in 7.6% (652/8600) of European American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /; dbSNP rs11592273).
PreventionGenetics,PreventionGenetics RCV000155543 SCV000302941 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339746 SCV000359663 likely benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneReviews RCV000020198 SCV000040535 benign Hermansky-Pudlak syndrome 1 2012-10-11 no assertion criteria provided curation Converted during submission to Benign.

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