ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Gharavi Laboratory, Columbia University and "likely benign" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum review status of the submission from Gharavi Laboratory, Columbia University: Collection method of the submission from Gharavi Laboratory, Columbia University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_024426.6(WT1):c.760C>T (p.Pro254Ser) rs2234584 0.00022
NM_000455.5(STK11):c.566C>T (p.Thr189Ile) rs587781515 0.00003

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.