Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000439816 | SCV000531304 | likely benign | not specified | 2016-08-26 | 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. |
Ambry Genetics | RCV000561876 | SCV000660818 | likely benign | Hereditary cancer-predisposing syndrome | 2015-10-13 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000439816 | SCV000696752 | likely benign | not specified | 2019-08-21 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000561876 | SCV000904052 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000878704 | SCV001021654 | likely benign | Familial cancer of breast | 2023-11-30 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000561876 | SCV002527030 | likely benign | Hereditary cancer-predisposing syndrome | 2021-06-09 | criteria provided, single submitter | curation |