ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.991-3T>G (rs773372519)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169173 SCV000220404 likely pathogenic Achromatopsia 3 2014-06-13 criteria provided, single submitter literature only
Human Genetics - Radboudumc,Radboudumc RCV000678548 SCV000804627 pathogenic Leber congenital amaurosis 2016-09-01 no assertion criteria provided clinical testing
Institute for Ophthalmic Research,University Tuebingen RCV000169173 SCV000575846 likely pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research

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