ClinVar Miner

Submissions for variant NM_000399.5(EGR2):c.1395G>A (p.Pro465=)

gnomAD frequency: 0.00002  dbSNP: rs779811073
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173237 SCV001336318 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001484118 SCV001688527 likely benign Charcot-Marie-Tooth disease, type I 2024-09-11 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000863191 SCV002061654 uncertain significance not provided 2021-10-26 criteria provided, single submitter clinical testing PM2
CeGaT Center for Human Genetics Tuebingen RCV000863191 SCV002563009 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing EGR2: BP4, BP7

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