Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000112397 | SCV000244345 | 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 = 0.000139 |
Ambry Genetics | RCV000162965 | SCV000213453 | 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. |
Color Diagnostics, |
RCV000162965 | SCV000909413 | likely benign | Hereditary cancer-predisposing syndrome | 2018-03-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001438486 | SCV001641360 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000162965 | SCV002538232 | likely benign | Hereditary cancer-predisposing syndrome | 2021-08-04 | criteria provided, single submitter | curation | |
Prevention |
RCV003894897 | SCV004713166 | likely benign | BRCA1-related condition | 2023-08-25 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Breast Cancer Information Core |
RCV000112397 | SCV000145178 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2010-12-17 | no assertion criteria provided | clinical testing |