Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001463960 | SCV001667917 | likely benign | not provided | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV002268490 | SCV002551092 | uncertain significance | not specified | 2024-07-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001463960 | SCV005333438 | uncertain significance | not provided | 2024-02-18 | 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; This variant is associated with the following publications: (PMID: 36358773) |
Ambry Genetics | RCV002268490 | SCV005486763 | benign | not specified | 2024-10-28 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |