ClinVar Miner

Submissions for variant NM_001098.3(ACO2):c.36G>A (p.Gln12=)

dbSNP: rs2518189757
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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 of Goettingen RCV003237326 SCV003935297 likely pathogenic Optic atrophy 9 2023-06-28 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818310 SCV005073624 uncertain significance Optic atrophy 2021-01-01 no assertion criteria provided clinical testing

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