ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge and "likely pathogenic" from Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum review status of the submission from Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge: Collection method of the submission from Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.6980del (p.Ser2326_Leu2327insTer) rs879255306
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_007294.4(BRCA1):c.4976del (p.Pro1659fs) rs879255295
NM_007294.4(BRCA1):c.5050_5051del (p.Thr1684fs) rs879255283

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.