ClinVar Miner

Submissions for variant NM_001174150.2(ARL13B):c.57C>A (p.Val19=)

dbSNP: rs1326813345
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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 RCV002073876 SCV002429875 likely benign Joubert syndrome 8 2021-06-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002073876 SCV005664267 uncertain significance Joubert syndrome 8 2024-03-10 criteria provided, single submitter clinical testing

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