ClinVar Miner

Submissions for variant NM_020312.4(COQ9):c.73+9del

dbSNP: rs749532852
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000364321 SCV000398233 uncertain significance Coenzyme Q10 deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000605945 SCV000727994 likely benign not specified 2018-03-02 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.

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