Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000563185 | SCV000671893 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-21 | 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. |
Color Diagnostics, |
RCV000563185 | SCV000912483 | likely benign | Hereditary cancer-predisposing syndrome | 2017-11-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000842679 | SCV000984709 | likely benign | not provided | 2018-04-25 | 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. |
Labcorp Genetics |
RCV001089112 | SCV001011685 | likely benign | Fanconi anemia complementation group O | 2024-08-12 | criteria provided, single submitter | clinical testing |