ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.2924A>G (p.Asp975Gly)

dbSNP: rs1432160044
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197683 SCV001368462 likely benign Abortive cerebellar ataxia 2020-03-07 criteria provided, single submitter clinical testing This variant was classified as: Likely benign.

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