ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.510C>T (p.Asp170=)

gnomAD frequency: 0.00003  dbSNP: rs782083906
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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 RCV001414859 SCV001617002 likely benign Joubert syndrome 15 2022-11-22 criteria provided, single submitter clinical testing

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