ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.802T>C (p.Cys268Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003222657 SCV003916559 likely pathogenic not provided 2023-02-01 criteria provided, single submitter clinical testing COQ8A: PM1, PM2, PM3:Supporting, PP1
Solve-RD Consortium RCV004765775 SCV005091418 likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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