ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3463G>C (p.Asp1155His)

dbSNP: rs80357484
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) RCV000112102 SCV000244341 benign Breast-ovarian cancer, familial, susceptibility to, 1 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.00000714
Color Health, Inc RCV000775158 SCV000909303 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-16 criteria provided, single submitter clinical testing
Invitae RCV002054875 SCV002380754 likely benign Hereditary breast ovarian cancer syndrome 2021-08-31 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112102 SCV000144770 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2003-11-25 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.