ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.2853dup (p.Gln952fs)

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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003329494 SCV004036080 pathogenic Dominant hereditary optic atrophy 2023-09-26 criteria provided, single submitter clinical testing

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