Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000167279 | SCV000218122 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-19 | 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 | RCV000205183 | SCV000260522 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000425284 | SCV000518356 | likely benign | not specified | 2018-01-30 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Color Diagnostics, |
RCV000167279 | SCV000686131 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-28 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000167279 | SCV002530196 | likely benign | Hereditary cancer-predisposing syndrome | 2022-01-02 | criteria provided, single submitter | curation | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000425284 | SCV002572390 | likely benign | not specified | 2022-08-28 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003150030 | SCV003838387 | likely benign | Breast and/or ovarian cancer | 2022-05-31 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003995578 | SCV004844198 | likely benign | Lynch syndrome | 2024-01-11 | criteria provided, single submitter | clinical testing |