Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163975 | SCV000214575 | likely benign | Hereditary cancer-predisposing syndrome | 2015-04-21 | 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 | RCV000467931 | SCV000562234 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-11-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001704187 | SCV000729482 | likely benign | not provided | 2020-12-16 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000602594 | SCV001360812 | likely benign | not specified | 2020-01-31 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000163975 | SCV001734748 | likely benign | Hereditary cancer-predisposing syndrome | 2020-12-21 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003995304 | SCV004839887 | likely benign | Lynch syndrome | 2023-08-14 | criteria provided, single submitter | clinical testing |