Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163474 | SCV000214029 | likely benign | Hereditary cancer-predisposing syndrome | 2015-04-23 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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 | RCV000205647 | SCV000262131 | likely benign | Fanconi anemia complementation group O | 2023-12-14 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000507662 | SCV000602141 | likely benign | not specified | 2017-05-18 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000163474 | SCV000686359 | likely benign | Hereditary cancer-predisposing syndrome | 2016-01-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000507662 | SCV000729699 | likely benign | not specified | 2017-10-23 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV003150000 | SCV003837698 | likely benign | Breast and/or ovarian cancer | 2021-06-03 | criteria provided, single submitter | clinical testing |