Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001288140 | SCV000237726 | likely benign | not provided | 2019-09-09 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV001288140 | SCV001475048 | likely benign | not provided | 2022-12-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002362955 | SCV002657207 | likely benign | Cardiovascular phenotype | 2019-11-14 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Revvity Omics, |
RCV001288140 | SCV003824804 | uncertain significance | not provided | 2019-07-18 | criteria provided, single submitter | clinical testing |