ClinVar Miner

Submissions for variant NM_001135998.3(NDUFB11):c.286T>C (p.Ser96Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002468751 SCV002764801 likely pathogenic Mitochondrial complex 1 deficiency, nuclear type 30 2018-01-16 criteria provided, single submitter clinical testing

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