ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.33+9C>G

gnomAD frequency: 0.00003  dbSNP: rs376019428
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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 RCV002184449 SCV002483795 likely benign Joubert syndrome 15 2023-09-11 criteria provided, single submitter clinical testing

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