ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter) (rs1592726020)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787561 SCV000926537 likely pathogenic Leber congenital amaurosis 2018-04-01 no assertion criteria provided research

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