Submissions for variant NM_024426.6(WT1):c.1114-9T>C

gnomAD frequency: 0.00465  dbSNP: rs5030274

Total submissions: 22

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000232504	SCV000290744	benign	Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome	2025-02-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000243264	SCV000314307	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000373563	SCV000371437	benign	Wilms tumor 1	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000286105	SCV000371438	likely benign	Nephrotic syndrome, type 4	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000339122	SCV000371439	benign	Meacham syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000243264	SCV000730726	benign	not specified	2017-06-26	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001530113	SCV001471579	benign	not provided	2021-10-21	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002243917	SCV002515040	benign	Drash syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002243916	SCV002515043	benign	Frasier syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000339122	SCV002515044	benign	Meacham syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000286105	SCV002515045	benign	Nephrotic syndrome, type 4	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000373563	SCV002515046	benign	Wilms tumor 1	2021-12-05	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257597	SCV002530515	likely benign	Hereditary cancer-predisposing syndrome	2021-03-10	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV001530113	SCV002544554	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	WT1: BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294089	SCV002587720	likely benign	Atypical hemolytic-uremic syndrome	2018-06-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000243264	SCV003923183	benign	not specified	2023-03-25	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV003588601	SCV004360957	benign	Nephroblastoma	2022-08-17	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000373563	SCV005880470	benign	Wilms tumor 1	2025-02-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001530113	SCV001744759	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001530113	SCV001808017	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001530113	SCV001932679	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001530113	SCV001969750	likely benign	not provided		no assertion criteria provided	clinical testing