ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.114C>G (p.Val38=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003229364 SCV003926226 uncertain significance not provided 2022-11-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003779830 SCV004574371 likely benign Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-08-22 criteria provided, single submitter clinical testing

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