ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4987-20A>G (rs80358035)

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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) RCV000077152 SCV000244376 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 = 0.000000197
Counsyl RCV000077152 SCV000220302 benign Breast-ovarian cancer, familial 1 2014-05-10 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175068 SCV000226496 benign not specified 2014-08-06 criteria provided, single submitter clinical testing
Invitae RCV000858114 SCV000252818 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000197931 SCV000494368 benign Hereditary breast and ovarian cancer syndrome 2014-04-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000175068 SCV000538433 benign not specified 2016-10-20 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency; ClinVar: Classified as benign by ENIGMA expert panel (8/10/15)
Baylor Genetics RCV000468319 SCV000540978 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000077152 SCV000575717 likely benign Breast-ovarian cancer, familial 1 2015-08-07 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000175068 SCV000591553 likely benign not specified 2017-10-25 criteria provided, single submitter clinical testing
Color RCV000579497 SCV000683232 benign Hereditary cancer-predisposing syndrome 2015-06-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000175068 SCV000806965 benign not specified 2017-09-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000175068 SCV001159430 benign not specified 2018-11-07 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077152 SCV000108949 benign Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077152 SCV000145243 uncertain significance Breast-ovarian cancer, familial 1 1999-12-30 no assertion criteria provided clinical testing

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