ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.751C>G (p.Pro251Ala)

dbSNP: rs28940295
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV000789417 SCV001336789 pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
OMIM RCV000002360 SCV000022518 pathogenic Charcot-Marie-Tooth disease type 2A2 2004-05-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789417 SCV000928772 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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