ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.493C>G (p.His165Asp) (rs119103262)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000002363 SCV000022521 pathogenic Charcot-Marie-Tooth disease, type 2A2A 2005-08-09 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789416 SCV000928771 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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