ClinVar Miner

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

gnomAD frequency: 0.00014  dbSNP: rs142647385
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Total submissions: 3
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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 2023-12-31 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
GeneDx RCV001576746 SCV001803996 likely benign not provided 2021-02-03 criteria provided, single submitter clinical testing

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