Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163832 | SCV000214418 | likely benign | Hereditary cancer-predisposing syndrome | 2014-08-29 | 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 |
RCV000232956 | SCV000288418 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001704181 | SCV000517121 | likely benign | not provided | 2019-12-23 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000163832 | SCV000684327 | likely benign | Hereditary cancer-predisposing syndrome | 2017-02-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000442056 | SCV001362043 | likely benign | not specified | 2019-07-18 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000163832 | SCV002531139 | likely benign | Hereditary cancer-predisposing syndrome | 2021-06-27 | criteria provided, single submitter | curation | |
European Reference Network on Genetic Tumour Risk Syndromes |
RCV000232956 | SCV003926729 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2022-08-01 | criteria provided, single submitter | clinical testing | Not applicable criteria (PMID: 30311375) |
Myriad Genetics, |
RCV000232956 | SCV005406478 | 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. |