Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000229196 | SCV000284069 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-02-20 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000582109 | SCV000689901 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-28 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000781535 | SCV000919642 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000582109 | SCV002528760 | likely benign | Hereditary cancer-predisposing syndrome | 2021-11-12 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV000582109 | SCV002659392 | likely benign | Hereditary cancer-predisposing syndrome | 2022-01-13 | 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 | RCV003477787 | SCV004220895 | likely benign | not provided | 2023-01-17 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003998744 | SCV004835305 | likely benign | Lynch syndrome | 2023-03-23 | criteria provided, single submitter | clinical testing |