ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2248_2249del (p.Leu750fs) (rs587783010)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090826 SCV001246572 pathogenic not provided 2019-06-01 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory,Seoul National University Hospital RCV000144460 SCV000189594 pathogenic Leber congenital amaurosis 10 2014-09-18 no assertion criteria provided clinical testing

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