ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1327A>T (p.Lys443Ter) (rs398122630)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077062 SCV000299578 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000413037 SCV000492462 pathogenic Neoplasm of the breast criteria provided, single submitter research
Mendelics RCV000709489 SCV000839289 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077062 SCV000108859 pathogenic Breast-ovarian cancer, familial 1 2011-10-26 no assertion criteria provided clinical testing

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.