Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000463694 | SCV000536467 | likely benign | not provided | 2021-09-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000990253 | SCV000558681 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000561529 | SCV000670971 | likely benign | Hereditary cancer-predisposing syndrome | 2015-11-03 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000463694 | SCV001134670 | benign | not provided | 2019-04-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000990253 | SCV001141138 | likely benign | Colorectal cancer, susceptibility to, 10 | 2019-05-28 | criteria provided, single submitter | clinical testing |