ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.885G>A (p.Arg295=) (rs79771882)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000714215 SCV000844908 benign not provided 2018-04-25 criteria provided, single submitter clinical testing
GeneDx RCV000193579 SCV000523137 benign not specified 2016-08-01 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 RCV000193579 SCV000249466 uncertain significance not specified 2014-06-27 criteria provided, single submitter clinical testing
Invitae RCV000226824 SCV000290227 benign Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 2017-12-28 criteria provided, single submitter clinical testing

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