ClinVar Miner

Submissions for variant NM_181507.2(HPS5):c.107del (p.Lys36fs)

dbSNP: rs1554948134
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503910 SCV000595180 pathogenic Hermansky-Pudlak syndrome 5 2017-01-17 criteria provided, single submitter clinical testing

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