ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.1432C>T (p.Arg478Ter) (rs201320564)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073613 SCV001239164 pathogenic Retinal dystrophy 2019-07-12 criteria provided, single submitter clinical testing
Institute for Ophthalmic Research,University Tuebingen RCV000498120 SCV000575836 pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787572 SCV000926552 pathogenic Achromatopsia 2018-04-01 no assertion criteria provided research

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