ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.67-2A>G (rs398123339)

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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 RCV000723703 SCV000110531 pathogenic not provided 2013-09-19 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000078672 SCV000281793 pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074239 SCV001239812 pathogenic Retinal dystrophy 2019-04-12 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415227 SCV000492545 pathogenic Visual impairment; Central scotoma; Macular degeneration; Retinal atrophy 2016-06-12 no assertion criteria provided clinical testing

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