ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1131T>C (p.Pro377=)

gnomAD frequency: 0.00047  dbSNP: rs151034312
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724105 SCV000232301 uncertain significance not provided 2014-10-23 criteria provided, single submitter clinical testing
Invitae RCV001083625 SCV000290745 benign Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000724105 SCV000729785 likely benign not provided 2018-05-31 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15483024)
Illumina Laboratory Services, Illumina RCV001107198 SCV001264335 likely 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 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 RCV001107199 SCV001264336 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 RCV001107200 SCV001264337 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Athena Diagnostics Inc RCV000179974 SCV001475084 benign not specified 2020-08-12 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255314 SCV002530516 benign Hereditary cancer-predisposing syndrome 2021-06-18 criteria provided, single submitter curation
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000724105 SCV003800507 likely benign not provided 2022-05-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724105 SCV004129974 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing WT1: BP4, BP7

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