Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000773709 | SCV000907408 | likely benign | Cardiomyopathy | 2018-08-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001413585 | SCV001615704 | likely benign | Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 | 2023-08-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001683654 | SCV001902396 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003307408 | SCV003993359 | likely benign | Cardiovascular phenotype | 2023-06-09 | 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. |