ClinVar Miner

Submissions for variant NM_001169109.1(SCO2):c.-14+710G>C (rs131806)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000309935 SCV000439288 benign Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364567 SCV000439289 benign Fatal Infantile Cardioencephalomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376198 SCV000483998 benign Mitochondrial DNA depletion syndrome 1 (MNGIE type) 2016-06-14 criteria provided, single submitter clinical testing

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