ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7397= (p.Ala2466=) (rs169547)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000120357 SCV000602752 benign not specified 2016-08-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120357 SCV000202300 benign not specified 2015-10-23 criteria provided, single submitter clinical testing
ITMI RCV000120357 SCV000084509 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120357 SCV000268811 benign not specified 2016-02-25 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.7397T) is the minor allele. This a llele (T) has been identified in 6.7% (696/10392) of African chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs1695 47) and thus meets criteria to be classified as benign.
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. RCV000207137 SCV000258682 uncertain significance Ductal breast carcinoma 2015-07-20 no assertion criteria provided research

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.