ClinVar Miner

Submissions for variant NC_000006.11:g.5262296_5395849del133554

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000714945 SCV000845721 likely pathogenic Combined oxidative phosphorylation defect type 14 2018-06-13 criteria provided, single submitter clinical testing

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