Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000162427 | SCV000212774 | likely benign | Hereditary cancer-predisposing syndrome | 2014-09-26 | 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 | RCV000198323 | SCV000253159 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000440936 | SCV000513651 | benign | not specified | 2015-04-21 | 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, |
RCV000162427 | SCV000685103 | likely benign | Hereditary cancer-predisposing syndrome | 2016-03-30 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000440936 | SCV004030113 | likely benign | not specified | 2023-07-17 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003998543 | SCV004830772 | likely benign | Lynch syndrome | 2023-12-18 | criteria provided, single submitter | clinical testing |