ClinVar Miner

Submissions for variant NM_001127660.1(MFN2):c.617C>T (p.Thr206Ile) (rs119103266)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268502 SCV001447479 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
OMIM RCV000002368 SCV000022526 pathogenic Hereditary motor and sensory neuropathy with optic atrophy 2006-02-01 no assertion criteria provided literature only
Genesis Genome Database RCV000857095 SCV000999668 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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