Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000461389 | SCV000545497 | uncertain significance | Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome | 2022-11-02 | criteria provided, single submitter | clinical testing | This variant, c.405_407dup, results in the insertion of 1 amino acid(s) of the WT1 protein (p.Pro136dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs760304811, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with WT1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
St. |
RCV000761054 | SCV000890969 | uncertain significance | Nephroblastoma | 2016-04-27 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002256255 | SCV002530543 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-12-07 | criteria provided, single submitter | curation | |
Gene |
RCV003231488 | SCV003930208 | uncertain significance | not provided | 2023-05-28 | criteria provided, single submitter | clinical testing | In-frame duplication of 1 amino acid in a repeat region; Observed in a non-cancer control individual (Pritchard et al., 2018); This variant is associated with the following publications: (PMID: 8486616, 29641532) |