ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) (rs61749420)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000085452 SCV000574771 likely pathogenic not provided 2017-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763047 SCV000893528 likely pathogenic Cone-rod dystrophy 3; Age-related macular degeneration 2; Stargardt disease 1; Retinitis pigmentosa 19 2018-10-31 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408546 SCV000281839 likely pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
Retina International RCV000085452 SCV000117589 not provided not provided no assertion provided not provided

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