Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000613817 | SCV000726112 | likely benign | not specified | 2017-12-21 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000758782 | SCV000887617 | uncertain significance | not provided | 2017-10-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001016995 | SCV001178013 | likely benign | Hereditary cancer-predisposing syndrome | 2018-01-04 | 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 | RCV001476680 | SCV001680892 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001016995 | SCV002537675 | likely benign | Hereditary cancer-predisposing syndrome | 2022-03-04 | criteria provided, single submitter | curation | |
Color Diagnostics, |
RCV001016995 | SCV004361084 | likely benign | Hereditary cancer-predisposing syndrome | 2023-03-06 | criteria provided, single submitter | clinical testing |