ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.1734dup (p.Gln579fs)

dbSNP: rs1560377736
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253086 SCV001428613 pathogenic Autosomal dominant optic atrophy classic form 2017-04-25 criteria provided, single submitter clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV001253086 SCV002764814 pathogenic Autosomal dominant optic atrophy classic form 2021-05-19 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001253086 SCV004012084 pathogenic Autosomal dominant optic atrophy classic form 2023-07-11 criteria provided, single submitter clinical testing

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