Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
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 |
RCV001271105 | SCV000327569 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2015-10-02 | criteria provided, single submitter | clinical testing |