Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000162573 | SCV000212989 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-26 | 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 | RCV000233342 | SCV000283698 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000162573 | SCV000685160 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-24 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586461 | SCV000695772 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000162573 | SCV000821799 | likely benign | Hereditary cancer-predisposing syndrome | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001711431 | SCV001940729 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31159747) |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001711431 | SCV004221132 | likely benign | not provided | 2023-08-25 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003492662 | SCV004239297 | likely benign | Breast and/or ovarian cancer | 2023-06-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004535056 | SCV004715781 | likely benign | MSH6-related disorder | 2020-12-04 | 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, |
RCV003995204 | SCV004837614 | likely benign | Lynch syndrome | 2023-09-04 | criteria provided, single submitter | clinical testing |