ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.638G>A (p.Arg213Gln)

gnomAD frequency: 0.00003  dbSNP: rs767584322
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824898 SCV000965819 likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency 2016-01-04 criteria provided, single submitter clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000824898 SCV002764964 likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency 2020-08-17 criteria provided, single submitter clinical testing

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