ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.1660-9T>C

gnomAD frequency: 0.45219  dbSNP: rs7552783
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000406694 SCV000355270 benign Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000606510 SCV000355271 benign Autosomal recessive ataxia due to ubiquinone deficiency 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000606510 SCV000745207 benign Autosomal recessive ataxia due to ubiquinone deficiency 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000676182 SCV001726137 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000606510 SCV001769146 benign Autosomal recessive ataxia due to ubiquinone deficiency 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000676182 SCV001892033 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000606510 SCV000733991 benign Autosomal recessive ataxia due to ubiquinone deficiency no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676182 SCV000801935 benign not provided 2016-02-11 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001699288 SCV001917775 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001699288 SCV001953489 benign not specified no assertion criteria provided clinical testing

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