ClinVar Miner

Submissions for variant NM_000399.5(EGR2):c.1242G>A (p.Lys414=) (rs554456422)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463792 SCV000560952 likely benign not provided 2016-12-02 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173239 SCV001336321 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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