ClinVar Miner

Submissions for variant NM_007300.4(BRCA1):c.2733A>G (p.Gly911=) (rs1800740)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000111927 SCV000578175 likely benign Breast-ovarian cancer, familial 1 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Invitae RCV000047951 SCV000075964 benign Hereditary breast and ovarian cancer syndrome 2018-01-09 criteria provided, single submitter clinical testing
Counsyl RCV000111927 SCV000154016 likely benign Breast-ovarian cancer, familial 1 2014-01-25 criteria provided, single submitter literature only
Ambry Genetics RCV000162536 SCV000212937 likely benign Hereditary cancer-predisposing syndrome 2014-06-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768646 SCV000219222 benign Breast and/or ovarian cancer 2017-01-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000284446 SCV000333833 likely benign not specified 2015-08-12 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000284446 SCV000586888 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000284446 SCV000591408 benign not specified 2012-09-06 criteria provided, single submitter clinical testing
Color RCV000162536 SCV000683059 likely benign Hereditary cancer-predisposing syndrome 2015-04-27 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000111927 SCV000744647 benign Breast-ovarian cancer, familial 1 2017-06-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000284446 SCV000806925 benign not specified 2017-01-30 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111927 SCV000144529 uncertain significance Breast-ovarian cancer, familial 1 2010-12-17 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000111927 SCV000189335 benign Breast-ovarian cancer, familial 1 2011-03-02 no assertion criteria provided clinical testing
True Health Diagnostics RCV000162536 SCV000886668 likely benign Hereditary cancer-predisposing syndrome 2018-09-28 no assertion criteria provided clinical testing

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