Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703714 | SCV000522466 | likely benign | not provided | 2018-05-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000474382 | SCV000557386 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000774773 | SCV000908754 | likely benign | Hereditary cancer-predisposing syndrome | 2017-12-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000774773 | SCV001175240 | likely benign | Hereditary cancer-predisposing syndrome | 2019-05-06 | 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 | RCV000421148 | SCV001469746 | benign | not specified | 2020-07-10 | criteria provided, single submitter | clinical testing |