ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5196+1056A>G (rs886044749)

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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 RCV000408562 SCV000281919 uncertain significance Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074079 SCV001239648 pathogenic Retinal dystrophy 2018-12-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091511 SCV001247608 pathogenic not provided 2019-01-01 criteria provided, single submitter clinical testing
Institute of Medical Molecular Genetics, University of Zurich RCV000408562 SCV001548119 likely pathogenic Stargardt disease 1 2021-01-30 criteria provided, single submitter clinical testing

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