ClinVar Miner

Submissions for variant NM_001303.3(COX10):c.-109G>A

gnomAD frequency: 0.15186  dbSNP: rs28680987
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000301058 SCV000400579 likely benign Cytochrome-c oxidase deficiency disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000367476 SCV000400580 likely benign Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000830944 SCV000972683 benign not provided 2018-06-14 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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