Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002092393 | SCV002324724 | likely benign | DiGeorge syndrome | 2022-10-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004044931 | SCV005030273 | likely benign | Cardiovascular phenotype | 2024-02-24 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |