Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000166153 | SCV000216926 | likely benign | Hereditary cancer-predisposing syndrome | 2017-02-09 | 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. |
Invitae | RCV000550738 | SCV000636047 | benign | Hereditary breast ovarian cancer syndrome | 2023-12-29 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000166153 | SCV000683326 | likely benign | Hereditary cancer-predisposing syndrome | 2017-05-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001582576 | SCV001821151 | likely benign | not provided | 2018-10-12 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30702160, 23451180, 10340909, 16267036, 21769658, 23893897, 20104584, 7894493) |
Sema4, |
RCV000166153 | SCV002537863 | likely benign | Hereditary cancer-predisposing syndrome | 2021-07-18 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV002267849 | SCV002551051 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001582576 | SCV004219463 | likely benign | not provided | 2023-08-17 | criteria provided, single submitter | clinical testing | |
Breast Cancer Information Core |
RCV000112736 | SCV000145620 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2004-02-20 | no assertion criteria provided | clinical testing |