ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.1701C>A (p.Tyr567Ter) (rs515726156)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory,London Health Sciences Centre RCV000790322 SCV001336329 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneReviews RCV000202552 SCV000148022 benign not provided 2014-04-02 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000790322 SCV000929730 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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