ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.423-18C>A

gnomAD frequency: 0.00029  dbSNP: rs371925259
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251565 SCV000313264 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001433619 SCV001636410 likely benign Joubert syndrome 15 2024-01-11 criteria provided, single submitter clinical testing

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