ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9117+1G>A (rs81002802)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000114050 SCV000328054 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566486 SCV000664806 pathogenic Hereditary cancer-predisposing syndrome 2016-06-23 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)
Color RCV000566486 SCV000684027 pathogenic Hereditary cancer-predisposing syndrome 2016-12-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985618 SCV001133967 pathogenic not provided 2019-08-21 criteria provided, single submitter clinical testing The variant disrupts a canonical splice site, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data. Assessment of experimental evidence suggests this variant results in abnormal protein function.
Breast Cancer Information Core (BIC) (BRCA2) RCV000114050 SCV000147543 pathogenic Breast-ovarian cancer, familial 2 2001-01-17 no assertion criteria provided clinical testing
Division Human Genetics,Medical University Innsbruck RCV000114050 SCV000212033 pathogenic Breast-ovarian cancer, familial 2 2015-02-11 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000114050 SCV000297575 pathogenic Breast-ovarian cancer, familial 2 2011-07-26 no assertion criteria provided clinical testing

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