ClinVar Miner

Submissions for variant NM_024996.7(GFM1):c.2167T>C (p.Cys723Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Department, Xiangya Hospital, Central South University RCV003233002 SCV002761208 likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 criteria provided, single submitter clinical testing

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