ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8332-2A>G (rs587782774)

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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 RCV000132304 SCV000187389 likely pathogenic Hereditary cancer-predisposing syndrome 2016-05-11 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
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258406 SCV000327874 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000258406 SCV000677762 likely pathogenic Breast-ovarian cancer, familial 2 2017-02-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000503891 SCV000592183 pathogenic Hereditary breast and ovarian cancer syndrome 2012-05-06 criteria provided, single submitter clinical testing
Hereditary Cancer Genetics group,Vall d'Hebron Institute of Oncology RCV000503891 SCV000916371 pathogenic Hereditary breast and ovarian cancer syndrome 2019-03-01 no assertion criteria provided research

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