Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000219817 | SCV000275008 | likely benign | Hereditary cancer-predisposing syndrome | 2015-04-07 | 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. |
Labcorp Genetics |
RCV000228708 | SCV000287718 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 4 | 2024-10-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001697292 | SCV000732259 | likely benign | not provided | 2019-07-29 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000219817 | SCV001359186 | likely benign | Hereditary cancer-predisposing syndrome | 2020-01-27 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV002267957 | SCV002550918 | likely benign | not specified | 2025-03-04 | criteria provided, single submitter | clinical testing | |
True Health Diagnostics | RCV000219817 | SCV000805307 | likely benign | Hereditary cancer-predisposing syndrome | 2018-05-08 | no assertion criteria provided | clinical testing |