ClinVar Miner

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

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000203040 SCV000258105 benign not specified 2015-11-26 criteria provided, single submitter clinical testing
Invitae RCV001085443 SCV000290222 benign Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 2020-12-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000203040 SCV000312703 likely benign not specified 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.
GeneDx RCV000433686 SCV000521297 benign not provided 2018-05-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30949922, 27884173, 21983861, 25612104, 11572989, 20480411, 24082139)
Genetic Services Laboratory, University of Chicago RCV000203040 SCV000597993 benign not specified 2017-05-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000433686 SCV000844898 benign not provided 2018-10-02 criteria provided, single submitter clinical testing

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