ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.1174C>T (p.Arg392Trp)

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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 RCV001173248 SCV001336331 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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