Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003766639 | SCV000562600 | likely benign | Familial adenomatous polyposis 1 | 2023-04-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000568635 | SCV000667526 | likely benign | Hereditary cancer-predisposing syndrome | 2017-08-31 | 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. |
Gene |
RCV000605741 | SCV000730901 | likely benign | not specified | 2017-05-11 | 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. |
Color Diagnostics, |
RCV000568635 | SCV001358162 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-21 | criteria provided, single submitter | clinical testing |