Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000772155 | SCV000905264 | likely benign | Hereditary cancer-predisposing syndrome | 2018-03-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000772155 | SCV001176630 | likely benign | Hereditary cancer-predisposing syndrome | 2019-08-09 | 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. |
Labcorp Genetics |
RCV001488332 | SCV001692842 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2023-02-05 | criteria provided, single submitter | clinical testing | |
European Reference Network on Genetic Tumour Risk Syndromes |
RCV001488332 | SCV003927009 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2022-08-01 | criteria provided, single submitter | clinical testing | PM2 (PMID: 30311375) |
Myriad Genetics, |
RCV001488332 | SCV005405195 | benign | Hereditary diffuse gastric adenocarcinoma | 2024-09-12 | 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. |