ClinVar Miner

Submissions for variant NM_001127660.1(MFN2):c.479T>G (p.Val160Gly) (rs879253861)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000235092 SCV000292351 likely pathogenic Charcot-Marie-Tooth disease, type 2A2A 2015-08-18 criteria provided, single submitter research Likely pathogenic based on conservation and prediction scores (Phylop, Polyphen, SIFT, MutationTaster) and consistent with peripheral axonal neuropathy of individual.

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