ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.1216C>G (p.Arg406Gly)

dbSNP: rs745976733
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074025 SCV001239592 uncertain significance Retinal dystrophy 2018-10-31 criteria provided, single submitter clinical testing

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