ClinVar Miner

Submissions for variant NM_181507.2(HPS5):c.582T>C (p.Leu194=)

gnomAD frequency: 0.00078  dbSNP: rs146455658
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002089848 SCV002325357 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003968701 SCV004780265 likely benign HPS5-related disorder 2024-01-23 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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