ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.334G>A (p.Val112Met)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000714526	SCV000845221	likely pathogenic	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	2018-08-07	criteria provided, single submitter	clinical testing

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