Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001070502 | SCV001235750 | likely benign | Kleefstra syndrome 1 | 2023-02-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001560468 | SCV001782886 | likely benign | not provided | 2020-01-21 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |