ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1265-16_1265-15del

dbSNP: rs1447574915
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002214618 SCV002362600 likely benign Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-10-12 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005308 SCV004834164 uncertain significance Wilms tumor 1 2023-08-15 criteria provided, single submitter clinical testing This variant deletes two nucleotides at the -15 and -16 positions of intron 7 of the WT1 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with WT1-related disorders in the literature. This variant has been identified in 1/251328 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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