ClinVar Miner

Submissions for variant NM_002601.4(PDE6D):c.409G>A (p.Asp137Asn)

gnomAD frequency: 0.00224  dbSNP: rs146510084
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652015 SCV000773874 likely benign Joubert syndrome 22 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432702 SCV004153452 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing PDE6D: BS2

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