ClinVar Miner

List of variants reported as uncertain significance for Breast carcinoma by Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_000038.6(APC):c.391A>G (p.Thr131Ala) rs1580329587
NM_000059.4(BRCA2):c.8881G>A (p.Gly2961Ser) rs878853614
NM_000251.3(MSH2):c.2029A>G (p.Thr677Ala) rs1553369013
NM_000465.3(BARD1):c.1518_1519invTG (p.Val507Met)

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.