Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000601711 | SCV000723253 | likely benign | not specified | 2017-09-28 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV001457479 | SCV001661282 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2023-03-31 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002255473 | SCV002529061 | likely benign | Hereditary cancer-predisposing syndrome | 2021-12-07 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002255473 | SCV002701003 | likely benign | Hereditary cancer-predisposing syndrome | 2020-03-16 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Myriad Genetics, |
RCV001457479 | SCV005405584 | benign | Hereditary diffuse gastric adenocarcinoma | 2024-09-18 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |