ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter) (rs886042360)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000593831 SCV000700909 pathogenic not provided 2015-08-11 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV001199656 SCV001162444 pathogenic Leber congenital amaurosis 2020-01-09 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV000593831 SCV001246563 pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing

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