ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1122A>G (p.Arg374=) (rs16754)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000576342 SCV000677587 benign Drash syndrome; Frasier syndrome; Diffuse mesangial sclerosis; Wilms tumor 1 2017-04-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179975 SCV000232302 benign not specified 2015-05-21 criteria provided, single submitter clinical testing
GeneDx RCV000179975 SCV000518966 benign not specified 2016-03-03 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.
Illumina Clinical Services Laboratory,Illumina RCV000274499 SCV000371432 benign Meacham syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331783 SCV000371433 benign Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374772 SCV000371434 benign Wilms Tumor 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282487 SCV000371435 benign Diffuse mesangial sclerosis 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587032 SCV000699502 benign not provided 2016-08-30 criteria provided, single submitter clinical testing Variant summary: The WT1 c.1107A>G (p.Arg369Arg) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a polymorphism outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 28265/121072 control chromosomes (4959 homozygotes) at a frequency of 0.2334561, which is approximately 24902 times the estimated maximal expected allele frequency of a pathogenic WT1 variant (0.0000094), suggesting this variant is likely a benign polymorphism. In addition, one clinical diagnostic laboratory classified this variant as benign. Taken together, this variant is classified as benign.
PreventionGenetics RCV000179975 SCV000314308 benign not specified criteria provided, single submitter clinical testing

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