ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.312C>G (p.Cys104Trp) (rs387907036)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023851 SCV000045142 pathogenic Charcot-Marie-Tooth disease, dominant intermediate E 2011-12-22 no assertion criteria provided literature only

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