ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.918C>T (p.Cys306=) (rs369159531)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654291 SCV000776181 likely benign Charcot-Marie-Tooth disease type 4 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173520 SCV001336609 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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