ClinVar Miner

Submissions for variant NM_020247.4(COQ8A):c.*807_*808insT

dbSNP: rs3215920
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000333606 SCV000355326 benign Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385912 SCV000355327 benign Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001683187 SCV001897120 benign not provided 2021-05-27 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001731574 SCV001984508 benign Autosomal recessive ataxia due to ubiquinone deficiency 2020-03-23 criteria provided, single submitter clinical testing

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