Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000583040 | SCV000690202 | likely benign | Hereditary cancer-predisposing syndrome | 2017-08-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001473610 | SCV001677764 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2022-03-13 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798684 | SCV002042033 | likely benign | Breast and/or ovarian cancer | 2020-08-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000583040 | SCV002697312 | likely benign | Hereditary cancer-predisposing syndrome | 2015-10-11 | 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. |
All of Us Research Program, |
RCV003997639 | SCV004841395 | likely benign | Lynch syndrome | 2023-10-27 | criteria provided, single submitter | clinical testing |