ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.711C>G (p.Phe237Leu)

dbSNP: rs769589145
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001327222 SCV001518285 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2021-09-08 criteria provided, single submitter clinical testing
GeneDx RCV002305599 SCV002599661 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25411445)
Athena Diagnostics RCV002305599 SCV002771133 uncertain significance not provided 2022-03-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002305599 SCV005193540 uncertain significance not provided criteria provided, single submitter not provided

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