Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000607399 | SCV000713978 | likely benign | not specified | 2018-02-20 | 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 | RCV000944259 | SCV001090225 | likely benign | Hereditary breast ovarian cancer syndrome | 2021-08-16 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001805205 | SCV002052139 | likely benign | Hereditary cancer-predisposing syndrome | 2021-07-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001805205 | SCV002743795 | likely benign | Hereditary cancer-predisposing syndrome | 2018-05-31 | 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. |