ClinVar Miner

Submissions for variant NM_006158.5(NEFL):c.630G>A (p.Glu210=)

dbSNP: rs1803043048
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173055 SCV001336130 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003514469 SCV004290393 likely benign Charcot-Marie-Tooth disease type 2E 2023-04-22 criteria provided, single submitter clinical testing

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