Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001442626 | SCV001645578 | likely benign | DiGeorge syndrome | 2023-03-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002495621 | SCV002797208 | likely benign | Conotruncal heart malformations; Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot | 2022-03-30 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV004704557 | SCV005208955 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Gene |
RCV004704557 | SCV005379743 | uncertain significance | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |