ClinVar Miner

Submissions for variant NM_014704.4(CEP104):c.2766C>T (p.Tyr922=)

gnomAD frequency: 0.00027  dbSNP: rs750794560
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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 RCV002112221 SCV002385767 likely benign Joubert syndrome 25 2024-07-29 criteria provided, single submitter clinical testing

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