ClinVar Miner

Submissions for variant NM_001174150.2(ARL13B):c.30C>T (p.Gly10=)

gnomAD frequency: 0.00006  dbSNP: rs375770842
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001052493 SCV001216705 likely benign Joubert syndrome 8 2025-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001052493 SCV002817005 uncertain significance Joubert syndrome 8 2021-07-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003221946 SCV003916833 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing ARL13B: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003902336 SCV004723993 likely benign ARL13B-related disorder 2019-07-30 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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