Submissions for variant NM_024426.6(WT1):c.123G>C (p.Pro41=)

gnomAD frequency: 0.00188  dbSNP: rs555140661

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000253106	SCV000224645	benign	not specified	2018-02-06	criteria provided, single submitter	clinical testing
Invitae	RCV001082622	SCV000290743	benign	Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000253106	SCV000314306	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000353922	SCV000371528	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.
Illumina Laboratory Services, Illumina	RCV000406473	SCV000371529	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	RCV000359538	SCV000371531	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.
GeneDx	RCV000228031	SCV000729799	likely benign	not provided	2022-02-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28873162)
CeGaT Center for Human Genetics Tuebingen	RCV000228031	SCV001148225	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	WT1: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000228031	SCV001157604	benign	not provided	2023-02-10	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000253106	SCV002072280	likely benign	not specified	2021-09-01	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002255310	SCV002530513	benign	Hereditary cancer-predisposing syndrome	2020-07-15	criteria provided, single submitter	curation
Color Diagnostics, LLC DBA Color Health	RCV003493483	SCV004242502	benign	Nephroblastoma	2022-09-20	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000228031	SCV001744148	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000228031	SCV001931209	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000228031	SCV001973084	likely benign	not provided		no assertion criteria provided	clinical testing