ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.115A>C (p.Ser39Arg)

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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, Univ. Regensburg, Univ. Regensburg RCV004817529 SCV005073601 uncertain significance Optic atrophy 2021-01-01 no assertion criteria provided clinical testing

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