Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001697042 | SCV000722312 | likely benign | not provided | 2019-03-19 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23893897, 30209399, 21673748, 22505045) |
Labcorp Genetics |
RCV000637385 | SCV000758841 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-09-10 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000774933 | SCV000908994 | likely benign | Hereditary cancer-predisposing syndrome | 2018-10-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000774933 | SCV002643623 | likely benign | Hereditary cancer-predisposing syndrome | 2020-03-19 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
All of Us Research Program, |
RCV000083059 | SCV004832349 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2023-08-28 | criteria provided, single submitter | clinical testing | |
Sharing Clinical Reports Project |
RCV000083059 | SCV000115133 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2012-05-01 | no assertion criteria provided | clinical testing | |
Brotman Baty Institute, |
RCV000083059 | SCV001243469 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |