ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5196+1137G>A (rs778234759)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000504651 SCV001241461 pathogenic Retinal dystrophy 2019-07-25 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504651 SCV000598992 likely pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504847 SCV000598993 likely pathogenic Stargardt disease 1 2015-01-01 no assertion criteria provided research
Human Genetics - Radboudumc,Radboudumc RCV000504847 SCV000804581 likely pathogenic Stargardt disease 1 2016-09-01 no assertion criteria provided clinical testing
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787507 SCV000926473 likely pathogenic Macular dystrophy 2018-04-01 no assertion criteria provided research
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787508 SCV000926474 likely pathogenic Stargardt disease 2018-04-01 no assertion criteria provided research

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