ClinVar Miner

Submissions for variant NM_015161.3(ARL6IP1):c.494-9T>A

gnomAD frequency: 0.00110  dbSNP: rs187822079
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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 RCV000652019 SCV000773878 likely benign Hereditary spastic paraplegia 61 2025-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928126 SCV004741930 likely benign ARL6IP1-related disorder 2019-05-13 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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