ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.2157C>T (p.Gly719=)

gnomAD frequency: 0.00001  dbSNP: rs150719390
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174125 SCV001337246 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001873633 SCV002314653 likely benign Charcot-Marie-Tooth disease axonal type 2C 2024-04-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003393863 SCV004131857 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing TRPV4: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005236654 SCV005885725 likely benign not specified 2025-02-10 criteria provided, single submitter clinical testing

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