ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.2995G>T (p.Glu999Ter)

dbSNP: rs2475490408
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289025 SCV002581364 uncertain significance Autosomal dominant optic atrophy classic form 2022-02-28 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV002289025 SCV002583359 pathogenic Autosomal dominant optic atrophy classic form 2021-12-01 no assertion criteria provided clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817004 SCV005069444 likely pathogenic Optic atrophy 2023-01-01 no assertion criteria provided clinical testing

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