ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.815G>C (p.Gly272Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV004527522 SCV005038830 likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency 2024-03-14 criteria provided, single submitter clinical testing

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