Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000205883 | SCV000259745 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2023-12-16 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000580597 | SCV000684450 | likely benign | Hereditary cancer-predisposing syndrome | 2017-04-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000580597 | SCV001177108 | likely benign | Hereditary cancer-predisposing syndrome | 2018-06-25 | 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 |
RCV000205883 | SCV003926974 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2022-08-01 | criteria provided, single submitter | clinical testing | PM2 (PMID: 30311375) |
KCCC/NGS Laboratory, |
RCV003316130 | SCV004017029 | likely benign | Malignant tumor of prostate | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000205883 | SCV005406960 | benign | Hereditary diffuse gastric adenocarcinoma | 2024-09-24 | 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. |