ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.5649dupA (p.Leu1884Thrfs) (rs281865188)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics - Radboudumc,Radboudumc RCV000678537 SCV000804611 pathogenic Retinitis pigmentosa 2016-09-01 no assertion criteria provided clinical testing
Retina International RCV000086297 SCV000118443 not provided not provided no assertion provided not provided

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