Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001085676 | SCV000252995 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000589187 | SCV000516030 | likely benign | not provided | 2019-03-12 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27616075) |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000439294 | SCV000600470 | uncertain significance | not specified | 2016-08-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000571104 | SCV000661187 | likely benign | Hereditary cancer-predisposing syndrome | 2019-03-08 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589187 | SCV000694514 | uncertain significance | not provided | 2017-07-27 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000571104 | SCV000903277 | benign | Hereditary cancer-predisposing syndrome | 2016-09-14 | criteria provided, single submitter | clinical testing | |
National Health Laboratory Service, |
RCV001085676 | SCV002026064 | likely benign | Hereditary breast ovarian cancer syndrome | 2021-11-16 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000571104 | SCV002533212 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-08-10 | criteria provided, single submitter | curation | |
University of Washington Department of Laboratory Medicine, |
RCV000571104 | SCV003849888 | 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 |
RCV000031308 | SCV000053913 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2012-05-31 | no assertion criteria provided | clinical testing | |
Center for Precision Medicine, |
RCV002250483 | SCV002520931 | likely benign | Familial cancer of breast | no assertion criteria provided | literature only |