ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.2816C>T (p.Ser939Leu)

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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 RCV001173935 SCV001337054 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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