Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001720015 | SCV000516013 | likely benign | not provided | 2021-05-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000572844 | SCV000662049 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-21 | 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 | RCV000939331 | SCV001085173 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003330666 | SCV004037794 | likely benign | not specified | 2023-08-31 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003996022 | SCV004835268 | likely benign | Lynch syndrome | 2023-07-10 | criteria provided, single submitter | clinical testing |