ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.1464C>T (p.Thr488=) (rs146841400)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437801 SCV000520083 likely benign not specified 2017-11-27 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 RCV000538437 SCV000646237 likely benign Charcot-Marie-Tooth disease axonal type 2C 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174123 SCV001337244 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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