Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000162839 | SCV000213326 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-24 | 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 | RCV000524144 | SCV000253098 | benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000162839 | SCV000690264 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-02 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000663249 | SCV000786470 | likely benign | Lynch syndrome 5 | 2018-05-09 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001194336 | SCV001363797 | likely benign | not specified | 2020-01-31 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284518 | SCV001470353 | likely benign | not provided | 2020-08-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001284518 | SCV001865033 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000162839 | SCV002535747 | likely benign | Hereditary cancer-predisposing syndrome | 2021-05-06 | criteria provided, single submitter | curation | |
Myriad Genetics, |
RCV000663249 | SCV004018998 | benign | Lynch syndrome 5 | 2023-03-29 | 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, |
RCV003997078 | SCV004828703 | likely benign | Lynch syndrome | 2024-02-05 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001194336 | SCV003839746 | likely benign | not specified | 2022-07-14 | no assertion criteria provided | clinical testing |