ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.213G>T (p.Pro71=) (rs2234582)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000254527 SCV000341869 benign not specified 2016-05-24 criteria provided, single submitter clinical testing
GeneDx RCV000254527 SCV000518967 benign not specified 2016-04-05 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 RCV000367093 SCV000371508 benign Diffuse mesangial sclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277367 SCV000371509 benign Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313693 SCV000371510 benign Meacham syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354183 SCV000371511 benign Wilms Tumor 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590459 SCV000699504 benign not provided 2016-05-26 criteria provided, single submitter clinical testing Variant summary: The WT1 c.198G>T (p.Pro66Pro) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 3159/9576 control chromosomes (520 homozygotes) at a frequency of 0.3298872, which is approximately 35188 times the estimated maximal expected allele frequency of a pathogenic WT1 variant (0.0000094), suggesting this variant is a benign polymorphism. Additionally, one clinical lab has classified this variant as benign. Taken together and based on the high allele frequency in the general population, this variant was classified as Benign.
PreventionGenetics RCV000254527 SCV000314312 benign not specified criteria provided, single submitter clinical testing

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