ClinVar Miner

Submissions for variant NM_004945.3(DNM2):c.1597G>T (p.Gly533Cys) (rs121909093)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000007706 SCV000027907 pathogenic Charcot-Marie-Tooth disease, type 2M 2007-07-17 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789617 SCV000928982 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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