ClinVar Miner

Submissions for variant NM_004945.3(DNM2):c.1672A>G (p.Lys558Glu) (rs121909088)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000007700 SCV000027901 pathogenic Charcot-Marie-Tooth disease, dominant intermediate b, with neutropenia 2005-03-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789618 SCV000928984 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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