ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.1824+14G>A

gnomAD frequency: 0.00001  dbSNP: rs1019790413
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174116 SCV001337237 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005093742 SCV005832288 likely benign Charcot-Marie-Tooth disease axonal type 2C 2024-10-16 criteria provided, single submitter clinical testing

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