ClinVar Miner

Submissions for variant NM_004945.3(DNM2):c.1697T>A (p.Leu566His) (rs121909094)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000007707 SCV000027908 pathogenic Charcot-Marie-Tooth disease, type 2M 2007-07-17 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789619 SCV000928985 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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