Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659318 | SCV000781129 | uncertain significance | Connective tissue disorder | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002255158 | SCV002526603 | uncertain significance | not provided | 2022-06-15 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Invitae | RCV002255158 | SCV003297421 | likely benign | not provided | 2022-09-02 | criteria provided, single submitter | clinical testing |