ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter) (rs587783016)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201586 SCV000256386 pathogenic Joubert syndrome 5 2015-02-23 criteria provided, single submitter research
Molecular Diagnostics Laboratory,Seoul National University Hospital RCV000144467 SCV000189602 pathogenic Leber congenital amaurosis 10 2014-09-18 no assertion criteria provided clinical testing

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