Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000205677 | SCV000260465 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000491625 | SCV000580226 | likely benign | Hereditary cancer-predisposing syndrome | 2016-03-08 | 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. |
Color Diagnostics, |
RCV000491625 | SCV000685338 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-21 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000587841 | SCV000695833 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284658 | SCV001470559 | likely benign | not provided | 2020-04-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001284658 | SCV001862330 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003997615 | SCV004839078 | likely benign | Lynch syndrome | 2023-08-28 | criteria provided, single submitter | clinical testing |