Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001080343 | SCV000646685 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000566471 | SCV000671115 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-09 | 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. |
Gene |
RCV000558270 | SCV000732729 | likely benign | not provided | 2019-05-02 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27149842) |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000558270 | SCV001134666 | benign | not provided | 2019-02-21 | criteria provided, single submitter | clinical testing |