ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.2092C>T (p.Leu698=) (rs774321681)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000867478 SCV001008708 likely benign not provided 2018-08-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174118 SCV001337239 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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