ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.198_199GC[1] (p.Arg67fs)

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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 RCV001173694 SCV001336804 pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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