Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000220432 | SCV000277109 | likely benign | Hereditary cancer-predisposing syndrome | 2015-07-09 | 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. |
Invitae | RCV000461218 | SCV000560777 | likely benign | Fanconi anemia complementation group O | 2023-12-08 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000220432 | SCV001343364 | likely benign | Hereditary cancer-predisposing syndrome | 2016-03-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001785524 | SCV002028228 | uncertain significance | not provided | 2021-05-21 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |
Sema4, |
RCV000220432 | SCV002531809 | likely benign | Hereditary cancer-predisposing syndrome | 2020-10-13 | criteria provided, single submitter | curation | |
Prevention |
RCV003897501 | SCV004710811 | likely benign | RAD51C-related condition | 2022-12-22 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |