ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.1278G>A (p.Thr426=) (rs139179261)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585214 SCV000692758 likely benign not provided 2017-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000611871 SCV000720922 likely benign not specified 2017-07-10 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.
Invitae RCV001086634 SCV001003145 likely benign Charcot-Marie-Tooth disease axonal type 2C 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000585214 SCV001146245 benign not provided 2019-01-30 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174130 SCV001337251 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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