Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000533156 | SCV000637790 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2023-07-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002448677 | SCV002736282 | likely benign | Hereditary cancer-predisposing syndrome | 2022-02-23 | 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. |
European Reference Network on Genetic Tumour Risk Syndromes |
RCV000533156 | SCV003926913 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2022-08-01 | criteria provided, single submitter | clinical testing | PM2 (PMID: 30311375) |