ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu) (rs62654395)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000132588 SCV000281802 likely pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074366 SCV001239942 pathogenic Retinal dystrophy 2019-07-23 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000085451 SCV001247765 pathogenic not provided 2020-02-01 criteria provided, single submitter clinical testing
Retina International RCV000085451 SCV000117588 not provided not provided no assertion provided not provided
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132588 SCV000172532 pathogenic Stargardt disease 1 no assertion criteria provided not provided Converted during submission to Pathogenic.

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