Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001439861 | SCV001642761 | likely benign | Hypertrophic cardiomyopathy | 2023-10-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002427211 | SCV002740979 | likely benign | Cardiovascular phenotype | 2019-10-07 | 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. |
Color Diagnostics, |
RCV003532303 | SCV004358789 | likely benign | Cardiomyopathy | 2022-05-05 | criteria provided, single submitter | clinical testing |