Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163707 | SCV000214281 | likely benign | Hereditary cancer-predisposing syndrome | 2014-10-30 | 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 | RCV000205874 | SCV000260579 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000163707 | SCV000685201 | likely benign | Hereditary cancer-predisposing syndrome | 2017-05-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001707544 | SCV000726461 | likely benign | not provided | 2021-02-22 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000614181 | SCV001737705 | likely benign | not specified | 2021-05-27 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000163707 | SCV002535635 | likely benign | Hereditary cancer-predisposing syndrome | 2021-05-17 | criteria provided, single submitter | curation | |
All of Us Research Program, |
RCV003995275 | SCV004839462 | likely benign | Lynch syndrome | 2023-05-30 | criteria provided, single submitter | clinical testing |