ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.358C>T (p.Arg120Trp) (rs141361080)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000433686 SCV000844898 likely benign not provided 2017-08-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000433686 SCV000511100 likely benign not provided 2016-07-11 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203040 SCV000258105 benign not specified 2015-11-26 criteria provided, single submitter clinical testing
GeneDx RCV000203040 SCV000521297 likely benign not specified 2017-11-14 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.
Genetic Services Laboratory, University of Chicago RCV000203040 SCV000597993 benign not specified 2017-05-08 criteria provided, single submitter clinical testing
Invitae RCV000228604 SCV000290222 benign Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 2018-01-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000203040 SCV000312703 likely benign not specified criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.