ClinVar Miner

Submissions for variant NM_001278293.3(ARL6):c.141C>T (p.Ile47=)

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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 RCV002948198 SCV003274054 likely benign Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2023-05-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004747159 SCV005365610 likely benign ARL6-related disorder 2021-01-08 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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