ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.2430C>A (p.Cys810Ter)

dbSNP: rs1230883512
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074531 SCV001240120 likely pathogenic Retinal dystrophy 2018-02-02 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700972 SCV001925738 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700972 SCV001974564 pathogenic not provided no assertion criteria provided clinical testing

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