ClinVar Miner

Submissions for variant NM_002601.4(PDE6D):c.363C>T (p.Ser121=)

gnomAD frequency: 0.00002  dbSNP: rs1206823310
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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 RCV002109304 SCV002438637 likely benign Joubert syndrome 22 2021-12-03 criteria provided, single submitter clinical testing

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