Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001083872 | SCV001067075 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000921665 | SCV001134067 | uncertain significance | not provided | 2019-02-21 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002259051 | SCV002529088 | likely benign | Hereditary cancer-predisposing syndrome | 2020-10-06 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002259051 | SCV002713955 | likely benign | Hereditary cancer-predisposing syndrome | 2015-10-13 | 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. |