ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.117G>A (p.Ala39=) (rs11549708)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000116234 SCV000338926 benign not specified 2016-01-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000600115 SCV000355223 benign Coenzyme Q10 deficiency, primary, 4 2018-01-13 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.
Illumina Clinical Services Laboratory,Illumina RCV000379956 SCV000355224 benign Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000600115 SCV000745203 benign Coenzyme Q10 deficiency, primary, 4 2015-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000676177 SCV001142948 benign not provided 2019-07-23 criteria provided, single submitter clinical testing
Invitae RCV000676177 SCV001728504 benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000600115 SCV001768993 benign Coenzyme Q10 deficiency, primary, 4 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000676177 SCV001833079 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116234 SCV000150151 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000600115 SCV000733987 benign Coenzyme Q10 deficiency, primary, 4 no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676177 SCV000801929 benign not provided 2016-02-11 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000116234 SCV001925040 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000116234 SCV001955706 benign not specified no assertion criteria provided clinical testing

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