ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys) (rs62642573)

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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 RCV000132591 SCV000281880 likely pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000085609 SCV001249459 pathogenic not provided 2018-05-01 criteria provided, single submitter clinical testing
Retina International RCV000085609 SCV000117748 not provided not provided no assertion provided not provided
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132591 SCV000172535 pathogenic Stargardt disease 1 no assertion criteria provided not provided Converted during submission to Pathogenic.

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