ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter) (rs1553193813)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504841 SCV000598933 likely pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000505559 SCV000599873 pathogenic Cone-rod dystrophy 3 2017-04-20 no assertion criteria provided clinical testing

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