ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.21G>T (p.Trp7Cys) (rs62635288)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505111 SCV000599189 likely pathogenic Leber congenital amaurosis 2015-01-01 no assertion criteria provided research
OMIM RCV000001398 SCV000021548 pathogenic Joubert syndrome 5 2006-06-01 no assertion criteria provided literature only
Retina International RCV000086283 SCV000118429 not provided not provided no assertion provided not provided
UW Hindbrain Malformation Research Program,University of Washington RCV000001398 SCV000256391 pathogenic Joubert syndrome 5 2015-02-23 criteria provided, single submitter research

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