ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.212+3A>G (rs80358083)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506191 SCV000602702 pathogenic not specified 2016-11-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000509906 SCV000607764 pathogenic Hereditary cancer-predisposing syndrome 2017-07-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting pathogenic classification,Functionally-validated splicing mutation
Breast Cancer Information Core (BIC) (BRCA1) RCV000083178 SCV000144666 not provided Breast-ovarian cancer, familial 1 no assertion provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000083178 SCV000325243 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000083178 SCV000244314 pathogenic 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 5 based on posterior probability = 1
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735529 SCV000863667 uncertain significance Breast and/or ovarian cancer 2015-04-09 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496318 SCV000587034 likely pathogenic Hereditary breast and ovarian cancer syndrome 2015-12-17 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000083178 SCV000115252 pathogenic Breast-ovarian cancer, familial 1 2010-02-17 no assertion criteria provided clinical testing

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