ClinVar Miner

Submissions for variant NM_004589.3(SCO1):c.-71G>T (rs2520169)

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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 RCV000359528 SCV000483574 likely 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 RCV000359528 SCV000483575 likely 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 RCV000305854 SCV000483576 likely benign Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing

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