ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne and "pathogenic" from any submitter

Minimum review status of the submission from German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne: Collection method of the submission from German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 9
Download table as spreadsheet
HGVS dbSNP
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000546.5(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) rs397517201

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.