ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.933C>G (p.Leu311=)

gnomAD frequency: 0.00002  dbSNP: rs757508300
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602180 SCV000716203 likely benign not specified 2017-02-21 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001506586 SCV001711511 likely benign Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2023-11-24 criteria provided, single submitter clinical testing

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