ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1397+7G>C (rs2296432)

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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 RCV000150813 SCV000202856 benign not specified 2014-02-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330835 SCV000359657 benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150813 SCV000198348 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 1397+7G>C in intron 14 of HPS1: This variant is not expected to have clinical si gnificance because it is not located within the conserved splice consensus seque nce. It has been identified in 20.5% (1763/8600) of European American chromosome s from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.w ashington.edu/EVS; dbSNP rs2296432).
PreventionGenetics RCV000150813 SCV000302925 benign not specified criteria provided, single submitter clinical testing

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