ClinVar Miner

Submissions for variant NM_000399.5(EGR2):c.1146T>G (p.Ser382Arg)

dbSNP: rs281865138
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000032121 SCV000055670 not provided Charcot-Marie-Tooth disease type 4E no assertion provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447096 SCV004174379 uncertain significance Charcot-Marie-Tooth disease type 1D 2016-01-06 no assertion criteria provided literature only

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