Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000162435 | SCV000212783 | likely benign | Hereditary cancer-predisposing syndrome | 2014-10-17 | 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 |
RCV000231043 | SCV000288443 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001704154 | SCV000515548 | likely benign | not provided | 2018-06-21 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000430199 | SCV000600963 | likely benign | not specified | 2016-08-24 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000162435 | SCV001346478 | likely benign | Hereditary cancer-predisposing syndrome | 2016-01-22 | criteria provided, single submitter | clinical testing | |
European Reference Network on Genetic Tumour Risk Syndromes |
RCV000231043 | SCV003926829 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2022-08-01 | criteria provided, single submitter | clinical testing | PM2 (PMID: 30311375) |
KCCC/NGS Laboratory, |
RCV003315977 | SCV004017012 | likely benign | Malignant tumor of prostate | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000231043 | SCV005406482 | benign | Hereditary diffuse gastric adenocarcinoma | 2024-09-19 | 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. |