Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000218997 | SCV000274876 | likely benign | Hereditary cancer-predisposing syndrome | 2015-03-27 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Counsyl | RCV000409199 | SCV000489629 | likely benign | Lynch syndrome 4 | 2016-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000551428 | SCV000522210 | likely benign | not provided | 2021-03-09 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000218997 | SCV000904183 | likely benign | Hereditary cancer-predisposing syndrome | 2018-03-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001408630 | SCV001610634 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2022-09-01 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001818524 | SCV002068676 | likely benign | not specified | 2019-03-13 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV001818524 | SCV002550736 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000409199 | SCV004019846 | benign | Lynch syndrome 4 | 2023-04-04 | 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. |
Ce |
RCV000551428 | SCV004163709 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | PMS2: BP4, BP7 |