Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001086577 | SCV000261485 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000213519 | SCV000274162 | likely benign | Hereditary cancer-predisposing syndrome | 2015-08-16 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000205308 | SCV001134371 | benign | not provided | 2018-11-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000213519 | SCV001350534 | likely benign | Hereditary cancer-predisposing syndrome | 2019-03-04 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193246 | SCV001361974 | likely benign | not specified | 2019-08-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000205308 | SCV001885250 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000213519 | SCV002534545 | likely benign | Hereditary cancer-predisposing syndrome | 2022-02-19 | criteria provided, single submitter | curation | |
All of Us Research Program, |
RCV003997651 | SCV004830883 | likely benign | Lynch syndrome | 2023-12-18 | criteria provided, single submitter | clinical testing |