ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) (rs61752398)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408543 SCV000281833 pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074552 SCV001240143 pathogenic Retinal dystrophy 2018-12-17 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090315 SCV001245788 pathogenic not provided 2020-02-01 criteria provided, single submitter clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000408543 SCV000804577 likely pathogenic Stargardt disease 1 2016-09-01 no assertion criteria provided clinical testing

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