Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000412439 | SCV000488584 | likely benign | Lynch syndrome 5 | 2016-05-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000563009 | SCV000662491 | likely benign | Hereditary cancer-predisposing syndrome | 2016-07-11 | 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 |
RCV000608504 | SCV000721262 | likely benign | not specified | 2017-07-17 | 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. |
Invitae | RCV001450156 | SCV001653756 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000412439 | SCV004018938 | benign | Lynch syndrome 5 | 2023-03-28 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |
Color Diagnostics, |
RCV000563009 | SCV004357638 | likely benign | Hereditary cancer-predisposing syndrome | 2022-01-24 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003996998 | SCV004836185 | likely benign | Lynch syndrome | 2023-11-20 | criteria provided, single submitter | clinical testing |