ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.809_810delinsGT (p.Leu270Arg)

dbSNP: rs1798216037
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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 RCV001074747 SCV001240342 likely pathogenic Retinal dystrophy 2019-05-17 criteria provided, single submitter clinical testing

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