ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr) (rs61749437)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000085487 SCV000226416 uncertain significance not provided 2014-09-26 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075467 SCV001241090 uncertain significance Retinal dystrophy 2018-10-11 criteria provided, single submitter clinical testing
Retina International RCV000085487 SCV000117624 not provided not provided no assertion provided not provided
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504877 SCV000598950 likely pathogenic Stargardt disease 1 2015-01-01 no assertion criteria provided research

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