Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703781 | SCV000523451 | likely benign | not provided | 2019-06-24 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22495361) |
Invitae | RCV000469580 | SCV000561448 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000574949 | SCV000662473 | likely benign | Hereditary cancer-predisposing syndrome | 2016-05-02 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000424717 | SCV000695838 | likely benign | not specified | 2019-09-03 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000574949 | SCV000909048 | likely benign | Hereditary cancer-predisposing syndrome | 2018-04-30 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004000389 | SCV004828781 | likely benign | Lynch syndrome | 2023-07-22 | criteria provided, single submitter | clinical testing |