Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000112102 | SCV000244341 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-08-10 | 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 1 based on posterior probability = 0.00000714 |
Color Diagnostics, |
RCV000775158 | SCV000909303 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-06-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002054875 | SCV002380754 | likely benign | Hereditary breast ovarian cancer syndrome | 2021-08-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000775158 | SCV002618369 | benign | Hereditary cancer-predisposing syndrome | 2014-11-18 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Breast Cancer Information Core |
RCV000112102 | SCV000144770 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2003-11-25 | no assertion criteria provided | clinical testing |