Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000869940 | SCV001011402 | likely benign | Lethal congenital glycogen storage disease of heart | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001181536 | SCV001346709 | likely benign | Cardiomyopathy | 2019-04-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001549665 | SCV001769857 | likely benign | not provided | 2019-07-11 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002454000 | SCV002611613 | likely benign | Cardiovascular phenotype | 2022-02-21 | 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. |