ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.929G>C (p.Arg310Pro)

dbSNP: rs765339835
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001824212 SCV002073818 likely pathogenic Developmental and epileptic encephalopathy, 28 criteria provided, single submitter clinical testing

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