ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.903C>G (p.Val301=) (rs748103823)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000245268 SCV000313789 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000464102 SCV000560181 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 RCV001174139 SCV001337260 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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