ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.3011T>G (p.Leu1004Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV004798075 SCV005419314 likely pathogenic See cases 2023-07-11 criteria provided, single submitter clinical testing ACMG categories: PS2,PM2,PP3,PP4
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817505 SCV005073558 likely pathogenic Optic atrophy 2018-01-01 no assertion criteria provided clinical testing

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