ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.2806del (p.Trp936fs)

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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 RCV002571624 SCV002822975 likely pathogenic Autosomal dominant optic atrophy classic form 2023-01-23 criteria provided, single submitter clinical testing

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