ClinVar Miner

Submissions for variant NM_001098.3(ACO2):c.1442A>C (p.Asp481Ala)

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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 Goettingen RCV003988606 SCV004801964 uncertain significance Optic atrophy 9 2023-04-17 criteria provided, single submitter clinical testing

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