ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1585A>G (p.Ile529Val)

gnomAD frequency: 0.00005  dbSNP: rs569192835
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595994 SCV000703767 uncertain significance not provided 2016-12-02 criteria provided, single submitter clinical testing
Invitae RCV000595994 SCV001087985 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935602 SCV004759572 likely benign HPS1-related disorder 2024-02-29 criteria provided, single submitter 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).
Natera, Inc. RCV001835865 SCV002094603 likely benign Hermansky-Pudlak syndrome 2019-10-28 no assertion criteria provided clinical testing

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