Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000227913 | SCV000283719 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-11-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000569066 | SCV000662432 | likely benign | Hereditary cancer-predisposing syndrome | 2016-02-22 | 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 |
RCV000600512 | SCV000729037 | likely benign | not specified | 2017-02-09 | 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, |
RCV000569066 | SCV001341306 | likely benign | Hereditary cancer-predisposing syndrome | 2019-09-27 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000600512 | SCV004099895 | likely benign | not specified | 2023-09-16 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003998709 | SCV004839384 | likely benign | Lynch syndrome | 2023-09-17 | criteria provided, single submitter | clinical testing |