Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000630484 | SCV000751444 | likely benign | DiGeorge syndrome | 2022-12-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002325204 | SCV002609779 | likely benign | Cardiovascular phenotype | 2022-06-22 | 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. |
Gene |
RCV003322799 | SCV004028407 | uncertain significance | not provided | 2023-08-16 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this variant does not alter splicing |