ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.2750dup (p.Tyr917Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV002291141 SCV002583404 pathogenic Autosomal dominant optic atrophy classic form 2022-03-01 no assertion criteria provided clinical testing

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