ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.396G>A (p.Pro132=) (rs114101785)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228423 SCV000290600 benign Charcot-Marie-Tooth disease axonal type 2C 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000301536 SCV000335797 benign not specified 2015-10-08 criteria provided, single submitter clinical testing
GeneDx RCV000301536 SCV000514974 likely benign not specified 2017-05-25 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.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173287 SCV001336370 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000301536 SCV001475707 benign not specified 2020-01-08 criteria provided, single submitter clinical testing

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