Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000212354 | SCV000167591 | benign | not specified | 2013-12-05 | 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. |
Ambry Genetics | RCV000124177 | SCV000213223 | likely benign | Hereditary cancer-predisposing syndrome | 2014-09-05 | 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 |
RCV001083286 | SCV000253427 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000124177 | SCV000684479 | likely benign | Hereditary cancer-predisposing syndrome | 2015-11-13 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759016 | SCV000888038 | benign | not provided | 2018-06-21 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000212354 | SCV001363230 | benign | not specified | 2019-09-11 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000124177 | SCV002529205 | likely benign | Hereditary cancer-predisposing syndrome | 2021-05-28 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV000212354 | SCV002551758 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
European Reference Network on Genetic Tumour Risk Syndromes |
RCV001083286 | SCV003926681 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2022-08-01 | criteria provided, single submitter | clinical testing | BP7 (PMID: 30311375) |
Myriad Genetics, |
RCV001083286 | SCV005406638 | benign | Hereditary diffuse gastric adenocarcinoma | 2024-09-13 | 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. |
Prevention |
RCV003894977 | SCV004709497 | likely benign | CDH1-related disorder | 2020-12-28 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |