ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.2686del (p.Tyr896fs)

dbSNP: rs2109253558
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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 RCV002210943 SCV002496174 pathogenic Autosomal dominant optic atrophy classic form 2022-04-05 criteria provided, single submitter clinical testing

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