ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.1377+6T>A

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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 Human Genetics, University of Leipzig Medical Center RCV002468880 SCV002765085 uncertain significance Autosomal dominant optic atrophy classic form 2023-06-29 criteria provided, single submitter clinical testing Criteria applied: PS4_SUP,PM2_SUP,PP3,PP4

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