ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3310-1G>C

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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 RCV004817453 SCV005073387 pathogenic Retinal dystrophy 2010-01-01 criteria provided, single submitter clinical testing

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