Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000983966 | SCV001132019 | likely benign | DiGeorge syndrome | 2023-12-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002488070 | SCV002804359 | likely benign | Conotruncal heart malformations; Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003327473 | SCV004034783 | uncertain significance | not provided | 2023-09-07 | criteria provided, single submitter | clinical testing | Reported in a patient with congenital heart defects in the published literature (Conti et al., 2003); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 12700609) |