Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001079660 | SCV000646648 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000568952 | SCV000670981 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-14 | 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. |
Prevention |
RCV000679516 | SCV000806536 | likely benign | not provided | 2017-10-10 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000679516 | SCV001134656 | likely benign | not provided | 2019-07-23 | criteria provided, single submitter | clinical testing |