ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.123G>C (p.Pro41=) (rs555140661)

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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 RCV000253106 SCV000224645 benign not specified 2018-02-06 criteria provided, single submitter clinical testing
GeneDx RCV000253106 SCV000729799 likely benign not specified 2018-02-01 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 RCV000353922 SCV000371528 likely benign Meacham syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406473 SCV000371529 likely benign Wilms Tumor 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300351 SCV000371530 likely benign Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359538 SCV000371531 likely benign Diffuse mesangial sclerosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000228031 SCV000290743 benign Drash syndrome; Frasier syndrome; Wilms tumor 1; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 2018-01-08 criteria provided, single submitter clinical testing
PreventionGenetics RCV000253106 SCV000314306 benign not specified criteria provided, single submitter clinical testing

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