Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001720049 | SCV000518329 | likely benign | not provided | 2019-05-14 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 20858050) |
Color Diagnostics, |
RCV000775973 | SCV000910491 | likely benign | Hereditary cancer-predisposing syndrome | 2018-04-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000946274 | SCV001092393 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000775973 | SCV002721709 | likely benign | Hereditary cancer-predisposing syndrome | 2019-11-29 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |