Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000421241 | SCV000531726 | likely benign | not specified | 2016-09-08 | 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. |
Labcorp Genetics |
RCV000870343 | SCV001011835 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 4 | 2024-06-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001019027 | SCV001180332 | likely benign | Hereditary cancer-predisposing syndrome | 2018-05-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Color Diagnostics, |
RCV001019027 | SCV001349816 | likely benign | Hereditary cancer-predisposing syndrome | 2019-08-12 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001019027 | SCV002527052 | likely benign | Hereditary cancer-predisposing syndrome | 2021-10-05 | criteria provided, single submitter | curation |