ClinVar Miner

Submissions for variant NM_005138.3(SCO2):c.514_515dup (p.Asp172fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003472601 SCV004202360 likely pathogenic Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 2023-09-03 criteria provided, single submitter clinical testing

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