Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001177710 | SCV001341972 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001489109 | SCV001693645 | likely benign | Familial cancer of breast | 2023-11-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001177710 | SCV003858987 | likely benign | Hereditary cancer-predisposing syndrome | 2023-02-23 | 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 |
RCV003938547 | SCV004747922 | likely benign | CHEK2-related condition | 2019-06-25 | 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). |