ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.393G>A (p.Gln131=)

gnomAD frequency: 0.00001  dbSNP: rs754924433
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001438137 SCV001641006 likely benign Charcot-Marie-Tooth disease axonal type 2C 2023-12-09 criteria provided, single submitter clinical testing
GeneDx RCV003442131 SCV004169992 uncertain significance not provided 2023-05-10 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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