ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.32del (p.Val11fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003486311 SCV004238556 likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency 2023-11-07 criteria provided, single submitter clinical testing

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