ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.1867_1869dup (p.Leu623dup)

dbSNP: rs1558212011
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000723312 SCV000854703 uncertain significance Autosomal recessive ataxia due to ubiquinone deficiency 2018-06-04 no assertion criteria provided clinical testing

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