ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) (rs55958233)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625389 SCV000745204 likely benign Coenzyme Q10 deficiency, primary, 4 2015-09-21 criteria provided, single submitter clinical testing
GeneDx RCV000123541 SCV000166879 benign not specified 2014-01-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000402436 SCV000355250 likely benign Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300331 SCV000355251 likely benign Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676179 SCV000801932 benign not provided 2016-02-29 no assertion criteria provided clinical testing

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