Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000214714 | SCV000277434 | likely benign | Hereditary cancer-predisposing syndrome | 2015-07-29 | 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 | RCV001394116 | SCV001595798 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-09-12 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000214714 | SCV001734280 | likely benign | Hereditary cancer-predisposing syndrome | 2020-06-08 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001532959 | SCV001748780 | likely benign | not specified | 2021-07-01 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003998030 | SCV004832668 | likely benign | Lynch syndrome | 2023-04-03 | criteria provided, single submitter | clinical testing |