Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000160907 | SCV000211604 | benign | not specified | 2014-01-20 | 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. |
Counsyl | RCV000411955 | SCV000488655 | benign | Nijmegen breakage syndrome-like disorder | 2016-05-25 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000160907 | SCV002069723 | benign | not specified | 2020-01-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002053937 | SCV002484841 | benign | Hereditary cancer-predisposing syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003315966 | SCV004017243 | benign | Familial cancer of breast | 2023-07-07 | criteria provided, single submitter | clinical testing |