ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.9C>T (p.Cys3=)

gnomAD frequency: 0.00004  dbSNP: rs750909242
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001448491 SCV001651585 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280127 SCV001467280 uncertain significance Hermansky-Pudlak syndrome 2020-08-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003928816 SCV004741350 likely benign HPS1-related disorder 2019-09-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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