ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.732C>T (p.Ile244=) (rs142647385)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862732 SCV001003276 likely benign Charcot-Marie-Tooth disease axonal type 2C 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173509 SCV001336598 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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