ClinVar Miner

Submissions for variant NM_181507.1(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
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.
Illumina Clinical Services Laboratory,Illumina RCV000331087 SCV000369598 likely benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
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 RCV000150824 SCV000316735 benign not specified criteria provided, single submitter clinical testing

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