Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163061 | SCV000213555 | likely benign | Hereditary cancer-predisposing syndrome | 2016-04-05 | 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 | RCV000199438 | SCV000253108 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000163061 | SCV000911798 | likely benign | Hereditary cancer-predisposing syndrome | 2016-04-29 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193102 | SCV001361710 | likely benign | not specified | 2019-12-17 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284015 | SCV001469569 | likely benign | not provided | 2020-02-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001284015 | SCV001942364 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003995229 | SCV004835088 | likely benign | Lynch syndrome | 2024-01-11 | criteria provided, single submitter | clinical testing |