ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9502-2A>C (rs81002868)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131049 SCV000185979 likely pathogenic Hereditary cancer-predisposing syndrome 2016-02-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Functionally-validated splicing mutation,Deficient protein function in appropriate functional assay(s)
Breast Cancer Information Core (BIC) (BRCA2) RCV000114124 SCV000147657 pathogenic Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000114124 SCV000328148 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507477 SCV000600864 likely pathogenic not provided 2017-04-04 criteria provided, single submitter clinical testing

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