ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.438T>G (p.Val146=)

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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 RCV003020918 SCV003301819 likely benign Joubert syndrome 15 2023-04-26 criteria provided, single submitter clinical testing

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