ClinVar Miner

Submissions for variant NM_007299.4(BRCA1):c.787+1779T>C (rs80356892)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 20
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) RCV000111891 SCV000244323 benign Breast-ovarian cancer, familial 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 = 0.00018. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.01399 (Asian), derived from 1000 genomes (2012-04-30).
Invitae RCV000047882 SCV000075895 benign Hereditary breast and ovarian cancer syndrome 2018-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000123907 SCV000167281 benign not specified 2014-02-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000162587 SCV000213003 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Counsyl RCV000111891 SCV000220480 benign Breast-ovarian cancer, familial 1 2014-07-04 criteria provided, single submitter literature only
Michigan Medical Genetics Laboratories,University of Michigan RCV000111891 SCV000267703 benign Breast-ovarian cancer, familial 1 2016-04-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000047882 SCV000403064 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV000456795 SCV000540988 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000111891 SCV000575708 likely benign Breast-ovarian cancer, familial 1 2015-08-28 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000123907 SCV000586886 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000123907 SCV000591395 benign not specified 2016-02-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000123907 SCV000602658 benign not specified 2015-10-05 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000162587 SCV000679703 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
Color RCV000162587 SCV000683048 benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
GeneKor MSA RCV000123907 SCV000693608 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000111891 SCV000744653 benign Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769715 SCV000901135 benign Breast and/or ovarian cancer 2016-03-03 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111891 SCV000144476 uncertain significance Breast-ovarian cancer, familial 1 2006-07-19 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000111891 SCV000189333 benign Breast-ovarian cancer, familial 1 2011-02-25 no assertion criteria provided clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148383 SCV000190081 likely benign Neoplasm of the breast 2014-06-01 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.