ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.2722C>T (p.Arg908Ter) (rs886042153)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000382757 SCV000332186 pathogenic not provided 2015-06-15 criteria provided, single submitter clinical testing
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787815 SCV000926825 likely pathogenic Cone-rod dystrophy 2018-04-01 no assertion criteria provided research

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