ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.334G>A (p.Val112Met) (rs757937208)

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Total submissions: 2
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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
Kariminejad - Najmabadi Pathology & Genetics Center RCV000714526 SCV001167081 likely pathogenic Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B criteria provided, single submitter clinical testing

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