ClinVar Miner

Submissions for variant NM_012062.5(DNM1L):c.176C>T (p.Thr59Ile)

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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 RCV003335822 SCV004045926 likely pathogenic Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 2023-07-18 criteria provided, single submitter clinical testing

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