ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.1032C>T (p.Ser344=)

gnomAD frequency: 0.00006  dbSNP: rs189895981
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001975013 SCV002243658 likely benign Joubert syndrome 15 2023-04-06 criteria provided, single submitter clinical testing

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