ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1897G>A (p.Asp633Asn)

gnomAD frequency: 0.00049  dbSNP: rs150740880
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001765518 SCV001999067 uncertain significance not provided 2019-10-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002488567 SCV002787986 uncertain significance Hermansky-Pudlak syndrome 1 2024-06-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001765518 SCV003271319 likely benign not provided 2024-11-28 criteria provided, single submitter clinical testing

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