Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000166216 | SCV000216995 | 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. |
Gene |
RCV000442733 | SCV000522162 | likely benign | not specified | 2016-08-24 | 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. |
Invitae | RCV000531060 | SCV000625564 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000166216 | SCV001360041 | likely benign | Hereditary cancer-predisposing syndrome | 2018-10-24 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003150027 | SCV003837742 | likely benign | Breast and/or ovarian cancer | 2021-06-16 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000442733 | SCV004025137 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003995487 | SCV004842149 | likely benign | Lynch syndrome | 2024-02-05 | criteria provided, single submitter | clinical testing |