ClinVar Miner

Submissions for variant NM_005138.3(SCO2):c.-135_-132dup

dbSNP: rs143413019
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000316989 SCV000439294 likely benign Mitochondrial complex IV deficiency, nuclear type 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000353038 SCV000439295 likely benign Fatal Infantile Cardioencephalomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000286473 SCV000483999 likely benign Mitochondrial DNA depletion syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001799657 SCV002043985 benign not provided 2021-12-21 criteria provided, single submitter clinical testing

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