ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.2142C>T (p.Leu714=)

gnomAD frequency: 0.00001  dbSNP: rs751939888
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278821 SCV002567106 uncertain significance Connective tissue disorder 2021-09-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003611577 SCV004551560 likely benign Charcot-Marie-Tooth disease axonal type 2C 2023-06-29 criteria provided, single submitter clinical testing

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