ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2368-831_2483+627del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV005000637 SCV005620356 pathogenic Leber congenital amaurosis 10 2020-01-01 no assertion criteria provided clinical testing

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