ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.2304G>C (p.Ser768=) (rs138986228)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000713881 SCV000884744 likely benign not provided 2017-10-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713881 SCV000844521 benign not provided 2017-11-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000713881 SCV000704480 uncertain significance not provided 2017-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000597518 SCV000714872 likely benign not specified 2017-04-13 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.
Invitae RCV000645566 SCV000767316 benign Charcot-Marie-Tooth disease type 2C 2017-11-15 criteria provided, single submitter clinical testing

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