ClinVar Miner

Submissions for variant NM_000350.2(ABCA4):c.6342G>A (p.Val2114=) (rs61748520)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000085811 SCV000344273 pathogenic not provided 2016-08-29 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases,University of Cambridge RCV000318700 SCV000599016 likely pathogenic Stargardt disease 1 2015-01-01 no assertion criteria provided research
Retina International RCV000085811 SCV000117954 not provided not provided no assertion provided not provided

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