ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7008-?_7805+?del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000258157 SCV001161658 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2019-06-18 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on posterior probability = 0.999995. This variant was reported to us with undefined breakpoints, therefore the clinical data from different families used in this classification may actually have different variants. However, due to the expected functional consequence being the same we have grouped them for analysis, assuming that variants that delete only these exons may be considered pathogenic (regardless of the breakpoints).
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV001271105 SCV000327569 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2015-10-02 criteria provided, single submitter clinical testing

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