ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) (rs281865402)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000085646 SCV000202090 uncertain significance not provided 2013-12-17 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000505160 SCV001241136 likely pathogenic Retinal dystrophy 2018-11-16 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000085646 SCV001248241 pathogenic not provided 2018-09-01 criteria provided, single submitter clinical testing
Retina International RCV000085646 SCV000117785 not provided not provided no assertion provided not provided
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505160 SCV000598980 likely pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research

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