ClinVar Miner

Submissions for variant NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) (rs866395428)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624398 SCV000741411 pathogenic Inborn genetic diseases 2016-03-18 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504935 SCV000599082 pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505126 SCV000599083 pathogenic Leber congenital amaurosis 2015-01-01 no assertion criteria provided research

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