ClinVar Miner

Submissions for variant NM_001278716.2(FBXL4):c.517G>T (p.Glu173Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV004765476 SCV005375363 pathogenic Mitochondrial DNA depletion syndrome 13 criteria provided, single submitter not provided

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