Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000424082 | SCV000527770 | likely benign | not specified | 2018-02-05 | 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 | RCV001084915 | SCV000558717 | likely benign | Colorectal cancer, susceptibility to, 10 | 2023-12-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000569384 | SCV000670918 | likely benign | Hereditary cancer-predisposing syndrome | 2016-03-02 | 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. |
Prevention |
RCV000679482 | SCV000806475 | likely benign | not provided | 2017-06-09 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000569384 | SCV002534602 | likely benign | Hereditary cancer-predisposing syndrome | 2021-06-02 | criteria provided, single submitter | curation |