ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.2869G>T (p.Glu957Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003312598 SCV004011513 pathogenic not provided 2023-08-01 criteria provided, single submitter clinical testing OPA1: PVS1, PM2
Institute of Immunology and Genetics Kaiserslautern RCV003505332 SCV004363622 pathogenic Autosomal dominant optic atrophy classic form 2024-02-02 criteria provided, single submitter clinical testing ACMG Criteria: PVS1, PM2_P, PP3, PP4, PP5; Variant was found in heterozygous state

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