Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000165290 | SCV000216008 | likely benign | Hereditary cancer-predisposing syndrome | 2014-08-08 | 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 |
RCV001085694 | SCV000288501 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000165290 | SCV000908728 | likely benign | Hereditary cancer-predisposing syndrome | 2018-09-26 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000233006 | SCV001134094 | likely benign | not provided | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000233006 | SCV001858300 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000165290 | SCV002529229 | benign | Hereditary cancer-predisposing syndrome | 2020-12-26 | criteria provided, single submitter | curation | |
European Reference Network on Genetic Tumour Risk Syndromes |
RCV001085694 | SCV003926708 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2022-08-01 | criteria provided, single submitter | clinical testing | Not applicable criteria (PMID: 30311375) |
Myriad Genetics, |
RCV001085694 | SCV005405245 | benign | Hereditary diffuse gastric adenocarcinoma | 2024-09-17 | 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. |