Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001241949 | SCV001415005 | likely benign | Dyskeratosis congenita | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001558827 | SCV001780851 | uncertain significance | not provided | 2023-04-08 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Genome- |
RCV001807394 | SCV002055590 | uncertain significance | Cerebroretinal microangiopathy with calcifications and cysts 1 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001819943 | SCV002071289 | uncertain significance | not specified | 2019-10-01 | criteria provided, single submitter | clinical testing |