ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.543C>T (p.Arg181=)

dbSNP: rs369870529
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000227083 SCV000290754 benign Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2025-01-06 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258862 SCV002530548 benign Hereditary cancer-predisposing syndrome 2021-05-18 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002479928 SCV002798949 likely benign Aniridia 1; Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1; 11p partial monosomy syndrome 2022-04-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998888 SCV004831524 benign Wilms tumor 1 2023-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004965350 SCV005533848 likely benign Inborn genetic diseases 2024-08-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV005243168 SCV005891519 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing WT1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004547617 SCV004735385 likely benign WT1-related disorder 2020-09-30 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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