Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703537 | SCV000515589 | likely benign | not provided | 2019-04-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000648306 | SCV000770120 | likely benign | Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001171233 | SCV001333937 | likely benign | Cardiomyopathy | 2023-06-20 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001171233 | SCV001344634 | likely benign | Cardiomyopathy | 2019-07-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002356535 | SCV002622594 | likely benign | Cardiovascular phenotype | 2021-06-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
All of Us Research Program, |
RCV003996014 | SCV004844844 | likely benign | Hypertrophic cardiomyopathy | 2024-02-05 | criteria provided, single submitter | clinical testing |