Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000408977 | SCV000489234 | likely benign | Lynch syndrome 5 | 2016-09-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000565750 | SCV000662557 | likely benign | Hereditary cancer-predisposing syndrome | 2017-03-07 | 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 | RCV001483289 | SCV001687677 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2018-06-07 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000408977 | SCV004018942 | 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. |
All of Us Research Program, |
RCV003996956 | SCV004818734 | likely benign | Lynch syndrome | 2023-03-23 | criteria provided, single submitter | clinical testing |