ClinVar Miner

Submissions for variant NM_024678.6(NARS2):c.822+6703_959+1726del

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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 RCV003110153 SCV003762149 likely pathogenic Combined oxidative phosphorylation defect type 24 2023-01-31 criteria provided, single submitter clinical testing

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