Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000934364 | SCV001080086 | likely benign | Hypertrophic cardiomyopathy | 2023-11-05 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001187087 | SCV001353751 | likely benign | Cardiomyopathy | 2019-11-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001572090 | SCV001796674 | likely benign | not provided | 2019-09-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002434244 | SCV002753876 | likely benign | Cardiovascular phenotype | 2022-03-08 | 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. |