ClinVar Miner

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

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Total submissions: 1
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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

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