ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.1709T>A (p.Leu570His)

dbSNP: rs121909094
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000007707 SCV000027908 pathogenic Autosomal dominant 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
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447078 SCV004174766 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2016-01-06 no assertion criteria provided literature only

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