ClinVar Miner

Submissions for variant NM_078470.6(COX15):c.1209T>C (p.Asn403=)

gnomAD frequency: 0.01341  dbSNP: rs34652235
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124579 SCV000168012 benign not specified 2012-05-18 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755986 SCV000883676 benign Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 2019-05-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717999 SCV005320682 benign not provided criteria provided, single submitter not provided

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