Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000164217 | SCV000214838 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-15 | 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. |
Invitae | RCV000233525 | SCV000284133 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001704193 | SCV000513663 | likely benign | not provided | 2019-03-08 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000164217 | SCV000690044 | likely benign | Hereditary cancer-predisposing syndrome | 2017-08-10 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000442659 | SCV000696234 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000164217 | SCV002534445 | likely benign | Hereditary cancer-predisposing syndrome | 2022-02-13 | criteria provided, single submitter | curation | |
CHEO Genetics Diagnostic Laboratory, |
RCV003491890 | SCV004239279 | likely benign | Breast and/or ovarian cancer | 2023-03-14 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003995326 | SCV004825294 | likely benign | Lynch syndrome | 2023-10-27 | criteria provided, single submitter | clinical testing |