ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.80G>A (p.Arg27Gln)

gnomAD frequency: 0.00193  dbSNP: rs116143727
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000889910 SCV001033626 likely benign not provided 2025-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495386 SCV002799179 likely benign Hermansky-Pudlak syndrome 1 2021-10-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836000 SCV002086565 benign Hermansky-Pudlak syndrome 2019-10-21 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003940654 SCV004754239 likely benign HPS1-related disorder 2019-12-05 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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