ClinVar Miner

Submissions for variant NM_001303.4(COX10):c.*1459del

gnomAD frequency: 0.00016  dbSNP: rs574015313
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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 RCV000394845 SCV000400681 uncertain significance Mitochondrial complex IV deficiency, nuclear type 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000300582 SCV000400682 uncertain significance Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144207 SCV003829916 uncertain significance Mitochondrial complex 4 deficiency, nuclear type 3 2022-03-10 criteria provided, single submitter clinical testing

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