ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.1839dup (p.Thr614fs) (rs1553145402)

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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,Klinikum rechts der Isar RCV000578294 SCV000680289 likely pathogenic Hereditary motor and sensory neuropathy with optic atrophy 2017-12-09 criteria provided, single submitter clinical testing

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