Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000435978 | SCV000512592 | likely benign | not specified | 2016-09-19 | 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. |
Invitae | RCV000464086 | SCV000561012 | likely benign | Familial cancer of breast | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000771774 | SCV000904452 | likely benign | Hereditary cancer-predisposing syndrome | 2018-06-06 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000435978 | SCV002766347 | uncertain significance | not specified | 2022-11-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003897844 | SCV004715666 | likely benign | CHEK2-related condition | 2022-01-06 | 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). |