ClinVar Miner

Submissions for variant NM_006158.5(NEFL):c.1611A>G (p.Gln537=)

dbSNP: rs1802987929
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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 RCV001173045 SCV001336120 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067844 SCV002458512 likely benign Charcot-Marie-Tooth disease type 2E 2021-11-01 criteria provided, single submitter clinical testing

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