ClinVar Miner

Submissions for variant NM_001278293.3(ARL6):c.350-7C>T

gnomAD frequency: 0.00008  dbSNP: rs375454860
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862255 SCV001002734 likely benign Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2025-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507470 SCV002806396 likely benign Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa; Retinitis pigmentosa 55 2021-11-19 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701326 SCV001918151 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727808 SCV001971948 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004745620 SCV005351055 likely benign ARL6-related disorder 2024-08-06 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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