ClinVar Miner

Submissions for variant NM_002601.4(PDE6D):c.371+8A>C

gnomAD frequency: 0.00367  dbSNP: rs75242814
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514174 SCV000611081 likely benign not provided 2017-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088984 SCV001021550 benign Joubert syndrome 22 2025-01-20 criteria provided, single submitter clinical testing

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