Submissions for variant NM_024426.6(WT1):c.662-6C>A

gnomAD frequency: 0.00034  dbSNP: rs372418954

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000227539	SCV000290757	likely benign	Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome	2024-01-21	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455551	SCV000540679	uncertain significance	not specified	2016-03-31	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Seen in 1 adult Wilms Tumor patient
Mendelics	RCV000988517	SCV001138265	likely benign	Drash syndrome	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001567721	SCV001791462	likely benign	not provided	2020-02-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 15591903)
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV001567721	SCV002011014	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000455551	SCV002071518	likely benign	not specified	2019-09-19	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002256171	SCV002530550	likely benign	Hereditary cancer-predisposing syndrome	2021-09-01	criteria provided, single submitter	curation
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001567721	SCV001800029	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001567721	SCV001808414	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001567721	SCV001967722	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004739636	SCV005359783	likely benign	WT1-related disorder	2024-08-20	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).