ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) (rs12593)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000614204 SCV000745205 benign Coenzyme Q10 deficiency, primary, 4 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000614204 SCV000733989 benign Coenzyme Q10 deficiency, primary, 4 no assertion criteria provided clinical testing
Genetic Services Laboratory, University of Chicago RCV000116235 SCV000150152 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.
Illumina Clinical Services Laboratory,Illumina RCV000330955 SCV000355266 benign Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373810 SCV000355267 benign Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676181 SCV000801934 benign not provided 2016-02-11 no assertion criteria provided clinical testing

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