Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000774441 | SCV000908143 | likely benign | Cardiomyopathy | 2018-10-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000866826 | SCV001007971 | likely benign | Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 | 2023-09-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002370041 | SCV002664215 | likely benign | Cardiovascular phenotype | 2020-09-08 | 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. |
Ce |
RCV003411713 | SCV004136289 | likely benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | ACTC1: BP4, BP7 |