Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002206077 | SCV002377336 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002206077 | SCV004035465 | uncertain significance | not provided | 2023-03-15 | 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 |
Fulgent Genetics, |
RCV005025693 | SCV005654411 | likely benign | Donnai-Barrow syndrome | 2024-04-18 | criteria provided, single submitter | clinical testing |