ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.515A>G (p.Glu172Gly)

dbSNP: rs1591093208
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851943 SCV000899347 likely pathogenic Hermansky-Pudlak syndrome 2019-02-01 criteria provided, single submitter research

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