Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000165527 | SCV000216259 | likely benign | Hereditary cancer-predisposing syndrome | 2014-08-14 | 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 | RCV000524177 | SCV000561477 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000165527 | SCV000690359 | likely benign | Hereditary cancer-predisposing syndrome | 2017-11-09 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001194334 | SCV001363795 | likely benign | not specified | 2020-09-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001682754 | SCV001896104 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000165527 | SCV002528033 | likely benign | Hereditary cancer-predisposing syndrome | 2022-03-04 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001682754 | SCV002774196 | likely benign | not provided | 2023-01-16 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003997090 | SCV004835076 | likely benign | Lynch syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing |