ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5193+2del (rs273901751)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217180 SCV000277738 pathogenic Hereditary cancer-predisposing syndrome 2017-06-28 criteria provided, single submitter clinical testing Functionally-validated splicing mutation;Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000083219 SCV000326200 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Medical Genetics, Oslo University Hospital RCV000083219 SCV000564382 pathogenic Breast-ovarian cancer, familial 1 2016-03-03 criteria provided, single submitter clinical testing
Color RCV000217180 SCV000688546 pathogenic Hereditary cancer-predisposing syndrome 2015-01-21 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083219 SCV000115293 pathogenic Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083219 SCV000145380 pathogenic Breast-ovarian cancer, familial 1 1999-12-30 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496372 SCV000587475 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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