ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1599-15A>G (rs2296435)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153370 SCV000202854 benign not specified 2014-02-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270401 SCV000359653 benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000153370 SCV000205242 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 1599-15A>G in intron 16 of HPS1: This variant is not expected to have clinical s ignificance because it has been identified in 24.0% (2061/8600) of European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project (; dbSNP rs2296435).
PreventionGenetics RCV000153370 SCV000302929 benign not specified criteria provided, single submitter clinical testing

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