Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000165755 | SCV000216499 | likely benign | Hereditary cancer-predisposing syndrome | 2014-09-17 | 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 | RCV000524171 | SCV000283799 | benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-26 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000226058 | SCV000430949 | uncertain significance | Lynch syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000410069 | SCV000487789 | likely benign | Lynch syndrome 5 | 2015-11-17 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000165755 | SCV000685390 | likely benign | Hereditary cancer-predisposing syndrome | 2016-03-02 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000609107 | SCV000695860 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001706084 | SCV000718709 | likely benign | not provided | 2019-07-31 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000165755 | SCV002528013 | likely benign | Hereditary cancer-predisposing syndrome | 2022-01-06 | criteria provided, single submitter | curation | |
Myriad Genetics, |
RCV000410069 | SCV004018893 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001706084 | SCV004221220 | likely benign | not provided | 2022-10-07 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV000226058 | SCV004828825 | likely benign | Lynch syndrome | 2023-11-30 | criteria provided, single submitter | clinical testing |