ClinVar Miner

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

gnomAD frequency: 0.00523  dbSNP: rs141361080
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Total submissions: 10
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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 Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences 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
Genome-Nilou Lab RCV002243885 SCV002513883 benign Developmental and epileptic encephalopathy, 28 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243884 SCV002513884 benign Autosomal recessive spinocerebellar ataxia 12 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000433686 SCV002545814 benign not provided 2024-02-01 criteria provided, single submitter clinical testing WWOX: BS1, BS2

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