ClinVar Miner

Submissions for variant NM_000399.5(EGR2):c.669C>A (p.Ile223=)

gnomAD frequency: 0.00006  dbSNP: rs766860417
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001492995 SCV001697615 likely benign Charcot-Marie-Tooth disease, type I 2024-02-13 criteria provided, single submitter clinical testing

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