ClinVar Miner

Submissions for variant NM_032380.5(GFM2):c.240T>G (p.Asp80Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV003110148 SCV003762143 uncertain significance Combined oxidative phosphorylation deficiency 39 2023-01-31 criteria provided, single submitter clinical testing

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