ClinVar Miner

Submissions for variant NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn) (rs281865139)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000033902 SCV000057816 pathologic Charcot-Marie-Tooth disease, demyelinating, type 1d 2012-10-18 no assertion criteria provided curation Converted during submission to Pathogenic.
Inherited Neuropathy Consortium RCV000789747 SCV000929125 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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