ClinVar Miner

Submissions for variant NC_000011.10:g.(?_32396247)_(32400054_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001033658 SCV001196965 pathogenic Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2019-04-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in WT1 are known to be pathogenic (PMID: 15150775). A similar variant has been observed de novo in an individual affected with early onset unilateral nephroblastoma (PMID: 1350671). This variant is an out-of-frame deletion of the genomic region encompassing exons 6 and 7 of the WT1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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