ClinVar Miner

Submissions for variant NM_000399.5(EGR2):c.1399G>C (p.Ala467Pro) (rs146116229)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088111 SCV000759678 benign Charcot-Marie-Tooth disease, type I 2020-10-04 criteria provided, single submitter clinical testing
GeneDx RCV000839675 SCV000981578 likely benign not provided 2018-05-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mayo Clinic Laboratories, Mayo Clinic RCV000839675 SCV001714955 uncertain significance not provided 2019-12-09 criteria provided, single submitter clinical testing

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