Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000217120 | SCV000274741 | likely benign | Hereditary cancer-predisposing syndrome | 2015-03-28 | 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 |
RCV000433760 | SCV000514350 | benign | not specified | 2015-08-13 | 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, |
RCV000217120 | SCV000686407 | likely benign | Hereditary cancer-predisposing syndrome | 2017-01-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000433760 | SCV000920366 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000951711 | SCV001098138 | likely benign | Fanconi anemia complementation group O | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000217120 | SCV002530036 | likely benign | Hereditary cancer-predisposing syndrome | 2021-08-04 | criteria provided, single submitter | curation |