ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.277GGC[3] (p.Gly96del)

dbSNP: rs770519620
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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 RCV000699416 SCV000828125 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-06-02 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. ClinVar contains an entry for this variant (Variation ID: 576824). This variant has not been reported in the literature in individuals affected with WT1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant, c.271_273del, results in the deletion of 1 amino acid(s) of the WT1 protein (p.Gly91del), but otherwise preserves the integrity of the reading frame.
Baylor Genetics RCV003465609 SCV004206929 uncertain significance Drash syndrome 2023-05-16 criteria provided, single submitter clinical testing

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