ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.1926+6A>T

gnomAD frequency: 0.00001  dbSNP: rs765481142
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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 RCV001073581 SCV001239132 uncertain significance Retinal dystrophy 2019-06-29 criteria provided, single submitter clinical testing

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