Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000466478 | SCV000562205 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-11-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000561270 | SCV000663440 | likely benign | Hereditary cancer-predisposing syndrome | 2015-02-09 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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, |
RCV000561270 | SCV000686128 | likely benign | Hereditary cancer-predisposing syndrome | 2017-03-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001613314 | SCV001835333 | likely benign | not provided | 2018-07-26 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV003320661 | SCV004025115 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing |