Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000773458 | SCV000907152 | likely benign | Hereditary cancer-predisposing syndrome | 2018-07-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000773458 | SCV001180925 | likely benign | Hereditary cancer-predisposing syndrome | 2019-09-20 | 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 | RCV001471934 | SCV001676057 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2021-08-12 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004000011 | SCV004837481 | likely benign | Lynch syndrome | 2023-06-08 | criteria provided, single submitter | clinical testing |