ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.1152+10C>T

gnomAD frequency: 0.00003  dbSNP: rs766655934
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842149 SCV000984145 likely benign not provided 2018-04-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001412521 SCV001614607 likely benign Charcot-Marie-Tooth disease axonal type 2C 2024-04-07 criteria provided, single submitter clinical testing

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