Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163186 | SCV000213707 | likely benign | Hereditary cancer-predisposing syndrome | 2014-05-28 | 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 |
RCV000233514 | SCV000288432 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000424146 | SCV000512520 | benign | not specified | 2015-04-07 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Color Diagnostics, |
RCV000163186 | SCV000684358 | likely benign | Hereditary cancer-predisposing syndrome | 2016-03-08 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000424146 | SCV001363015 | likely benign | not specified | 2019-08-08 | criteria provided, single submitter | clinical testing | |
European Reference Network on Genetic Tumour Risk Syndromes |
RCV000233514 | SCV003926786 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2022-08-01 | criteria provided, single submitter | clinical testing | BP7 (PMID: 30311375) |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477587 | SCV004220786 | likely benign | not provided | 2023-09-16 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000424146 | SCV005090244 | likely benign | not specified | 2024-07-31 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000233514 | SCV005404151 | 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. |