Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000204572 | SCV000260387 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-11-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000568612 | SCV000669753 | likely benign | Hereditary cancer-predisposing syndrome | 2017-06-08 | 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. |
Gene |
RCV000615464 | SCV000713928 | likely benign | not specified | 2017-12-22 | 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, |
RCV000568612 | SCV001342617 | likely benign | Hereditary cancer-predisposing syndrome | 2019-07-30 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000568612 | SCV002534537 | likely benign | Hereditary cancer-predisposing syndrome | 2021-11-27 | criteria provided, single submitter | curation | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000615464 | SCV003928879 | likely benign | not specified | 2023-04-09 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003997612 | SCV004828455 | likely benign | Lynch syndrome | 2023-04-03 | criteria provided, single submitter | clinical testing |