ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.1426C>G (p.Arg476Gly) (rs1266361856)

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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 RCV000626228 SCV000746875 likely pathogenic Charcot-Marie-Tooth disease, type 2A2A 2017-12-18 criteria provided, single submitter clinical testing

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