ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.1573-20C>G

gnomAD frequency: 0.38143  dbSNP: rs2297416
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000603748 SCV000745206 likely benign Autosomal recessive ataxia due to ubiquinone deficiency 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV001515600 SCV001723704 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000603748 SCV001769145 benign Autosomal recessive ataxia due to ubiquinone deficiency 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001515600 SCV001845776 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000603748 SCV000733990 benign Autosomal recessive ataxia due to ubiquinone deficiency no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700243 SCV001917133 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001700243 SCV001956652 benign not specified no assertion criteria provided clinical testing

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