ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.1744dup (p.Ser582fs)

dbSNP: rs1553281318
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Total submissions: 3
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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 RCV000985120 SCV004807158 pathogenic Autosomal recessive ataxia due to ubiquinone deficiency 2024-03-26 criteria provided, single submitter clinical testing
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000162171 SCV000196457 likely pathogenic Cerebellar ataxia; Nystagmus; Cerebellar atrophy; Dysmetria; Slurred speech; Dysdiadochokinesis; Slightly reduced reflexes 2014-12-01 no assertion criteria provided research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985120 SCV001133099 likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency 2019-09-26 no assertion criteria provided clinical testing

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