ClinVar Miner

Submissions for variant NM_001127660.1(MFN2):c.730G>T (p.Val244Leu) (rs879253777)

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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 RCV000235088 SCV000292311 pathogenic Charcot-Marie-Tooth disease, type 2A2A 2015-09-17 criteria provided, single submitter research This variant has been previously reported as disease-causing and was found in a 4 year old patient with peripheral neuropathy, developmental delay, and seizures. Patient also had a deletion involving PRICKLE1.

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