ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.671-2A>C (rs80358108)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565769 SCV000660956 pathogenic Hereditary cancer-predisposing syndrome 2016-04-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity,Deficient protein function in appropriate functional assay(s)
Breast Cancer Information Core (BIC) (BRCA1) RCV000112767 SCV000145659 pathogenic Breast-ovarian cancer, familial 1 1999-06-21 no assertion criteria provided clinical testing
Color RCV000565769 SCV000911277 likely pathogenic Hereditary cancer-predisposing syndrome 2018-08-17 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112767 SCV000326385 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000112767 SCV000576446 pathogenic Breast-ovarian cancer, familial 1 2017-02-14 criteria provided, single submitter clinical testing

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