ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.786C>T (p.Ser262=)

gnomAD frequency: 0.00011  dbSNP: rs376709568
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000866126 SCV001007182 likely benign Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2024-11-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705823 SCV005219208 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003948111 SCV004766502 likely benign WWOX-related disorder 2019-12-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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