ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1645C>T (p.Arg549Cys)

gnomAD frequency: 0.00001  dbSNP: rs747984964
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001568535 SCV001792422 uncertain significance not provided 2019-05-30 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 17933573)
Natera, Inc. RCV001827493 SCV002092132 uncertain significance Hermansky-Pudlak syndrome 2020-06-30 no assertion criteria provided clinical testing

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