Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000160723 | SCV000211357 | benign | not specified | 2014-09-23 | 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 | RCV000221101 | SCV000273517 | likely benign | Hereditary cancer-predisposing syndrome | 2015-01-22 | 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. |
Invitae | RCV001084595 | SCV000283772 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000410698 | SCV000488236 | likely benign | Lynch syndrome 5 | 2016-01-28 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000232387 | SCV000601546 | benign | not provided | 2023-01-18 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000221101 | SCV000685332 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-10 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000160723 | SCV002103391 | likely benign | not specified | 2022-02-05 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000221101 | SCV002535775 | likely benign | Hereditary cancer-predisposing syndrome | 2020-08-06 | criteria provided, single submitter | curation | |
Myriad Genetics, |
RCV000410698 | SCV004018886 | benign | Lynch syndrome 5 | 2023-03-28 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV003492657 | SCV004239310 | likely benign | Breast and/or ovarian cancer | 2022-09-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004544471 | SCV004780125 | likely benign | MSH6-related disorder | 2019-08-13 | criteria provided, single submitter | 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). |
All of Us Research Program, |
RCV003998513 | SCV004838989 | likely benign | Lynch syndrome | 2023-08-23 | criteria provided, single submitter | clinical testing |