Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000218873 | SCV000274023 | likely benign | Hereditary cancer-predisposing syndrome | 2015-02-18 | 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. |
Gene |
RCV001704013 | SCV000517236 | likely benign | not provided | 2018-05-15 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 21165770) |
Labcorp Genetics |
RCV000114663 | SCV000561107 | likely benign | Familial cancer of breast | 2024-11-26 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000114663 | SCV000784797 | likely benign | Familial cancer of breast | 2017-01-03 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000218873 | SCV000904037 | likely benign | Hereditary cancer-predisposing syndrome | 2018-04-13 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000218873 | SCV002531223 | likely benign | Hereditary cancer-predisposing syndrome | 2021-10-19 | criteria provided, single submitter | curation | |
Myriad Genetics, |
RCV000114663 | SCV004019668 | benign | Familial cancer of breast | 2023-03-31 | 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. |
Leiden Open Variation Database | RCV000114663 | SCV001193020 | likely benign | Familial cancer of breast | 2019-05-13 | no assertion criteria provided | curation | Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz. |