ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter) (rs61749414)

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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 RCV000408491 SCV000281835 pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000085440 SCV001245787 pathogenic not provided 2018-05-01 criteria provided, single submitter clinical testing
Institute of Medical Molecular Genetics, University of Zurich RCV000408491 SCV001548025 likely pathogenic Stargardt disease 1 2021-01-30 criteria provided, single submitter clinical testing
Retina International RCV000085440 SCV000117577 not provided not provided no assertion provided not provided

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