Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000162813 | SCV000213295 | likely benign | Hereditary cancer-predisposing syndrome | 2015-02-16 | 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. |
Counsyl | RCV000410591 | SCV000489152 | likely benign | Familial cancer of breast | 2016-08-29 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000410591 | SCV000561017 | likely benign | Familial cancer of breast | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000506278 | SCV000601149 | uncertain significance | not specified | 2017-07-13 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000162813 | SCV000684580 | likely benign | Hereditary cancer-predisposing syndrome | 2017-03-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001706070 | SCV001882418 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000506278 | SCV001983623 | likely benign | not specified | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000162813 | SCV002537044 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-07-03 | criteria provided, single submitter | curation | |
Ce |
RCV001706070 | SCV002821114 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | CHEK2: BP4, BP7 |
Myriad Genetics, |
RCV000410591 | SCV004020136 | benign | Familial cancer of breast | 2023-03-08 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |