ClinVar Miner

Submissions for variant NC_000011.10:g.(?_32416480)_(32417664_?)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 RCV001033870 SCV001197177 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2022-11-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with WT1-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 4-5 of the WT1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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