Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001705235 | SCV000279492 | likely benign | not provided | 2018-09-26 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001705235 | SCV000601615 | likely benign | not provided | 2023-09-08 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000584660 | SCV000690475 | likely benign | Hereditary cancer-predisposing syndrome | 2017-08-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000922724 | SCV001068164 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-09-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000584660 | SCV001188624 | likely benign | Hereditary cancer-predisposing syndrome | 2018-03-27 | 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. |
All of Us Research Program, |
RCV003998629 | SCV004836908 | likely benign | Lynch syndrome | 2023-05-04 | criteria provided, single submitter | clinical testing |