ClinVar Miner

Submissions for variant NM_001030311.3:c.(238+1_239-1)_(481+1_482-1)del

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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 RCV004814133 SCV005072600 pathogenic Retinal dystrophy 2022-01-01 criteria provided, single submitter clinical testing

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