ClinVar Miner

Submissions for variant NM_001174150.2(ARL13B):c.422C>G (p.Ala141Gly)

dbSNP: rs529580146
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000784937 SCV000923479 uncertain significance Joubert syndrome 8 2019-01-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000784937 SCV001016331 benign Joubert syndrome 8 2023-08-23 criteria provided, single submitter clinical testing
GeneDx RCV001575449 SCV001802446 likely benign not provided 2020-12-02 criteria provided, single submitter clinical testing

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