Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000470379 | SCV000561534 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000580742 | SCV000685166 | likely benign | Hereditary cancer-predisposing syndrome | 2017-02-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000602153 | SCV000726196 | likely benign | not specified | 2017-12-26 | 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, |
RCV000602153 | SCV002600628 | likely benign | not specified | 2022-10-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000580742 | SCV002751325 | likely benign | Hereditary cancer-predisposing syndrome | 2021-01-12 | 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, |
RCV004002175 | SCV004827930 | likely benign | Lynch syndrome | 2023-11-02 | criteria provided, single submitter | clinical testing |