Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000215440 | SCV000278702 | likely benign | Hereditary cancer-predisposing syndrome | 2021-01-20 | 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 |
RCV001089211 | SCV000651770 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 4 | 2024-10-27 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000215440 | SCV000691355 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-26 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000760067 | SCV000889829 | likely benign | not provided | 2018-05-04 | criteria provided, single submitter | clinical testing |