ClinVar Miner

Submissions for variant NM_001303.3(COX10):c.-112G>A

gnomAD frequency: 0.99477  dbSNP: rs6502330
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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 RCV000336039 SCV000400577 benign Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000390210 SCV000400578 benign Cytochrome-c oxidase deficiency disease 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001672530 SCV001882917 benign not provided 2018-06-23 criteria provided, single submitter clinical testing

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