ClinVar Miner

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

gnomAD frequency: 0.00148  dbSNP: 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 2021-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000839675 SCV000981578 likely benign not provided 2020-09-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32376792)
Mayo Clinic Laboratories,Mayo Clinic RCV000839675 SCV001714955 uncertain significance not provided 2019-12-09 criteria provided, single submitter clinical testing

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