Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001467116 | SCV001671135 | likely benign | DiGeorge syndrome | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001762689 | SCV001998870 | uncertain significance | not provided | 2020-01-13 | criteria provided, single submitter | clinical testing | In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |