ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8632+1G>A (rs397507997)

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Total submissions: 4
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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) RCV000238926 SCV001161648 pathogenic Breast-ovarian cancer, familial 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 = 0.998093
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000238926 SCV000327932 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Color RCV000584092 SCV000689141 likely pathogenic Hereditary cancer-predisposing syndrome 2018-08-04 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000238926 SCV000297570 likely pathogenic Breast-ovarian cancer, familial 2 2009-06-03 no assertion criteria provided clinical testing

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