Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000232522 | SCV000283706 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000491059 | SCV000580236 | likely benign | Hereditary cancer-predisposing syndrome | 2015-11-18 | 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. |
Color Diagnostics, |
RCV000491059 | SCV000685175 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000611965 | SCV000729572 | likely benign | not specified | 2017-10-10 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000611965 | SCV000917736 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000491059 | SCV002535609 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-02-15 | criteria provided, single submitter | curation | |
All of Us Research Program, |
RCV003998707 | SCV004827953 | likely benign | Lynch syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing |