ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.143_144del (p.Val48fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002287252 SCV002577487 pathogenic Meckel syndrome, type 4 2021-10-08 criteria provided, single submitter clinical testing PVS1, PM2, PP4

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