Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163995 | SCV000214597 | likely benign | Hereditary cancer-predisposing syndrome | 2017-03-09 | 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 |
RCV000826931 | SCV000968527 | likely benign | not provided | 2018-05-02 | 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 | RCV002517611 | SCV001710962 | likely benign | Familial adenomatous polyposis 1 | 2023-02-24 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000163995 | SCV004360971 | likely benign | Hereditary cancer-predisposing syndrome | 2021-11-02 | criteria provided, single submitter | clinical testing |