Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000049205 | SCV000077218 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-12-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000130323 | SCV000185173 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-01 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Counsyl | RCV000077634 | SCV000786609 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2018-06-06 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000130323 | SCV000909395 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-04-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001588880 | SCV001826749 | uncertain significance | not provided | 2019-09-26 | criteria provided, single submitter | clinical testing | Observed in individuals with breast and/or ovarian cancer (Azzolini 2016); Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Also known as 1083G>A; This variant is associated with the following publications: (PMID: 27062684, 33087888, 31131967, 28726806, 16267036) |
University of Washington Department of Laboratory Medicine, |
RCV000130323 | SCV003846264 | likely benign | Hereditary cancer-predisposing syndrome | 2023-03-23 | criteria provided, single submitter | curation | Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673). |
Sharing Clinical Reports Project |
RCV000077634 | SCV000109437 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2010-09-15 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000077634 | SCV000143966 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2002-05-29 | no assertion criteria provided | clinical testing |