ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.569C>T (p.Pro190Leu)

dbSNP: rs757349907
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002064470 SCV002334098 likely benign Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002538928 SCV003614943 uncertain significance Inborn genetic diseases 2022-02-17 criteria provided, single submitter clinical testing The c.554C>T (p.P185L) alteration is located in exon 1 (coding exon 1) of the WT1 gene. This alteration results from a C to T substitution at nucleotide position 554, causing the proline (P) at amino acid position 185 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.