ClinVar Miner

Submissions for variant NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp) (rs104894159)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000018234 SCV000038513 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1d 2003-01-14 no assertion criteria provided literature only
GeneReviews RCV000018234 SCV000055672 pathologic Charcot-Marie-Tooth disease, demyelinating, type 1d 2012-10-18 no assertion criteria provided curation Converted during submission to Pathogenic.

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