ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.30C>T (p.Asp10=)

dbSNP: rs373146723
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002182441 SCV002339933 likely benign Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2021-03-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003913539 SCV004736030 likely benign WWOX-related disorder 2019-05-02 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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