Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000569555 | SCV000674395 | likely benign | Hereditary cancer-predisposing syndrome | 2017-04-19 | 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. |
Gene |
RCV000603446 | SCV000727029 | likely benign | not specified | 2018-01-24 | 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 | RCV001082376 | SCV000774116 | likely benign | Tumor predisposition syndrome 3 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000569555 | SCV002527175 | likely benign | Hereditary cancer-predisposing syndrome | 2020-12-22 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV000603446 | SCV002760424 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing |