ClinVar Miner

Submissions for variant NM_020312.4(COQ9):c.864G>C (p.Lys288Asn) (rs61730662)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000224043 SCV000885255 benign not provided 2017-11-21 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224043 SCV000281197 benign not provided 2015-09-28 criteria provided, single submitter clinical testing
GeneDx RCV000124554 SCV000167987 benign not specified 2012-11-28 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 RCV000293059 SCV000398246 uncertain significance Coenzyme Q10 deficiency, primary 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000224043 SCV000802731 benign not provided 2017-09-15 no assertion criteria provided clinical testing

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